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Entry
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- *138140 - SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1
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- OMIM
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<p>
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<span class="h4">*138140</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/138140">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</div>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000117394;t=ENST00000426263" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=6513" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=138140" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000117394;t=ENST00000426263" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_006516" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_006516" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=138140" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=00683&isoform_id=00683_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/SLC2A1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/183303,463112,3387905,14268550,56208433,62087554,110002625,112292468,115502394,119627528,119627529,158259043,166795299,189065478,193784689,194373463,194383930,2026661636,2026661638" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P11166" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=6513" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000117394;t=ENST00000426263" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC2A1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=SLC2A1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+6513" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/SLC2A1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:6513" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/6513" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000426263.10&hgg_start=42925353&hgg_end=42958868&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11005" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:11005" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/slc2a1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=138140[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=138140[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/SLC2A1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000117394" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=SLC2A1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=SLC2A1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SLC2A1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SLC2A1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA35875" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:11005" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0028561.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:95755" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/SLC2A1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:95755" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/6513/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=6513" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00018779;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00018779 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00019207;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00019207 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00019979;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00019979 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-3158" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:138140" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6513" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SLC2A1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 715564000, 724072002<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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138140
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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GLUCOSE TRANSPORTER 1; GLUT; GLUT1<br />
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ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER<br />
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HUMAN T-CELL LEUKEMIA VIRUS RECEPTOR; HTLVR<br />
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HTLV-1 AND HTLV-2 RECEPTOR
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SLC2A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLC2A1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/1/513?start=-3&limit=10&highlight=513">1p34.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:42925353-42958868&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:42,925,353-42,958,868</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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<a href="/clinicalSynopsis/table?mimNumber=614847,601042,606777,612126,608885" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
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View Clinical Synopses
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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<a href="/geneMap/1/513?start=-3&limit=10&highlight=513">
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1p34.2
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{Epilepsy, idiopathic generalized, susceptibility to, 12}
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<a href="/entry/614847"> 614847 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<span class="mim-font">
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Dystonia 9
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<span class="mim-font">
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<a href="/entry/601042"> 601042 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<span class="mim-font">
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GLUT1 deficiency syndrome 1, infantile onset, severe
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<span class="mim-font">
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<a href="/entry/606777"> 606777 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<span class="mim-font">
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GLUT1 deficiency syndrome 2, childhood onset
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<td>
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<span class="mim-font">
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<a href="/entry/612126"> 612126 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<span class="mim-font">
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Stomatin-deficient cryohydrocytosis with neurologic defects
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<span class="mim-font">
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<a href="/entry/608885"> 608885 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/138140" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/138140" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<div id="mimDescriptionFold" class="collapse in ">
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<p>The SLC2A1 gene encodes the major glucose transporter in brain, placenta, and erythrocytes (<a href="#5" class="mim-tip-reference" title="Baroni, M. G., Oelbaum, R. S., Pozzilli, P., Stocks, J., Li, S.-R., Fiore, V., Galton, D. J. <strong>Polymorphisms at the GLUT1 (HepG2) and GLUT4 (muscle/adipocyte) glucose transporter genes and non-insulin-dependent diabetes mellitus (NIDDM).</strong> Hum. Genet. 88: 557-561, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1348045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1348045</a>] [<a href="https://doi.org/10.1007/BF00219344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1348045">Baroni et al., 1992</a>). SLC2A1 also transports dehydroascorbic acid (the oxidized form of vitamin C) (<a href="#1" class="mim-tip-reference" title="Agus, D. B., Gambhir, S. S., Pardridge, W. M., Spielholz, C., Baselga, J., Vera, J. C., Golde, D. W. <strong>Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters.</strong> J. Clin. Invest. 100: 2842-2848, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9389750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9389750</a>] [<a href="https://doi.org/10.1172/JCI119832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9389750">Agus et al., 1997</a>) and functions as a receptor for human T-cell leukemia virus (HTLV) (<a href="#26" class="mim-tip-reference" title="Manel, N., Kim, F. J., Kinet, S., Taylor, N., Sitbon, M., Battini, J.-L. <strong>The ubiquitous glucose transporter GLUT-1 is a receptor for HTLV.</strong> Cell 115: 449-459, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14622599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14622599</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00881-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14622599">Manel et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9389750+1348045+14622599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<p><a href="#30" class="mim-tip-reference" title="Mueckler, M., Caruso, C., Baldwin, S. A., Panico, M., Blench, I., Morris, H. R., Allard, W. J., Lienhard, G. E., Lodish, H. F. <strong>Sequence and structure of a human glucose transporter.</strong> Science 229: 941-945, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3839598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3839598</a>] [<a href="https://doi.org/10.1126/science.3839598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3839598">Mueckler et al. (1985)</a> isolated a cDNA corresponding to human GLUT1 from human HepG2 hepatoma cells. The deduced amino acid sequence indicates that this protein lacks a signal sequence and possesses 12 potential membrane-spanning domains. The amino terminus, carboxyl terminus, and a highly hydrophilic domain in the center of the protein ware all predicted to lie on the cytoplasmic face of the cell. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3839598" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#52" class="mim-tip-reference" title="Wang, D., Kranz-Eble, P., De Vivo, D. C. <strong>Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.</strong> Hum. Mutat. 16: 224-231, 2000. Note: Erratum: Hum. Mutat. 16: 527 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980529</a>] [<a href="https://doi.org/10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980529">Wang et al. (2000)</a> stated that the SLC2A1 gene encodes a 492-amino acid protein with 97 to 98% identity between human, rat, rabbit, and pig sequences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<div>
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<a id="geneStructure" class="mim-anchor"></a>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#52" class="mim-tip-reference" title="Wang, D., Kranz-Eble, P., De Vivo, D. C. <strong>Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.</strong> Hum. Mutat. 16: 224-231, 2000. Note: Erratum: Hum. Mutat. 16: 527 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980529</a>] [<a href="https://doi.org/10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980529">Wang et al. (2000)</a> stated the SLC2A1 gene contains 10 exons and spans approximately 35 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<div>
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<a id="biochemicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimBiochemicalFeaturesFold" id="mimBiochemicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimBiochemicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</h4>
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<div id="mimBiochemicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><strong><em>Crystal Structure</em></strong></p><p>
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<a href="#10" class="mim-tip-reference" title="Deng, D., Xu, C., Sun, P., Wu, J., Yan, C., Hu, M., Yan, N. <strong>Crystal structure of the human glucose transporter GLUT1.</strong> Nature 510: 121-125, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24847886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24847886</a>] [<a href="https://doi.org/10.1038/nature13306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24847886">Deng et al. (2014)</a> reported the crystal structure of human GLUT1 at 3.2-angstrom resolution. The full-length protein, which has a canonical major facilitator superfamily fold, is captured in an inward-open conformation. This structure allows accurate mapping and potential mechanistic interpretation of disease-associated mutations in GLUT1. Structure-based analysis of these mutations provides insight into the alternating access mechanism of GLUT1 and other members of the sugar porter subfamily. Structural comparison of the uniporter GLUT1 with its bacterial homolog XylE, a proton-coupled xylose symporter, allows examination of the transport mechanisms of both passive facilitators and active transporters. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24847886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p><a href="#53" class="mim-tip-reference" title="Wang, D., Pascual, J. M., Yang, H., Engelstad, K., Jhung, S., Sun, R. P., De Vivo, D. C. <strong>Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.</strong> Ann. Neurol. 57: 111-118, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622525</a>] [<a href="https://doi.org/10.1002/ana.20331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15622525">Wang et al. (2005)</a> stated that the SLC2A1 gene maps to chromosome 1p34.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15622525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#46" class="mim-tip-reference" title="Shows, T. B., Eddy, R. L., Byers, M. G., Fukushima, Y., Dehaven, C. R., Murray, J. C., Bell, G. I. <strong>Polymorphic human glucose transporter gene (GLUT) is on chromosome 1p31.3-p35.</strong> Diabetes 36: 546-549, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3028891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3028891</a>] [<a href="https://doi.org/10.2337/diab.36.4.546" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3028891">Shows et al. (1987)</a> mapped the SLC2A1 gene to chromosome 1p35-p31.3 by in situ hybridization and by Southern blot analysis of somatic cell hybrids. They concluded that the most likely location of SLC2A1 is in 1p33. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3028891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Ardinger, R. H., Jr., Buetow, K. H., Weiss, M. J., Nemer, M., DeHaven, C. R., Murray, J. C. <strong>Multipoint linkage relationships of 6 loci on 1p (ALPL, GLUT, PGD, PGM1, PND, RH). (Abstract)</strong> Am. J. Hum. Genet. 41: A154 only, 1987."None>Ardinger et al. (1987)</a> found linkage between Rh and a DNA polymorphism for GLUT (theta = 0.21; lod = 3.54). Multipoint analysis indicated that the order of the loci is probably RH--3--ALPL--12--GLUT--23--PGM1, with the interlocus intervals as percent recombination in males (female rate about 2.8 times the male rate). <a href="#57" class="mim-tip-reference" title="Xiang, K., Cox, N. J., Karam, J. H., Bell, G. I. <strong>Bgl II RFLP at the human erythrocyte/HepG2-type glucose transporter (GLUT) locus on chromosome 1.</strong> Nucleic Acids Res. 15: 9101 only, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2891109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2891109</a>] [<a href="https://doi.org/10.1093/nar/15.21.9101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2891109">Xiang et al. (1987)</a> described a RFLP of the GLUT locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2891109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The high metabolic requirements of the mammalian central nervous system require specialized structures for the facilitated transport of nutrients across the blood-brain barrier. The facilitative glucose transporter GLUT1 is expressed on endothelial cells at the blood-brain barrier and is responsible for glucose entry into the brain (<a href="#1" class="mim-tip-reference" title="Agus, D. B., Gambhir, S. S., Pardridge, W. M., Spielholz, C., Baselga, J., Vera, J. C., Golde, D. W. <strong>Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters.</strong> J. Clin. Invest. 100: 2842-2848, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9389750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9389750</a>] [<a href="https://doi.org/10.1172/JCI119832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9389750">Agus et al., 1997</a>). Stereo-specific high-capacity carriers, including those that recognize glucose, are key components of this barrier, which also protects the brain against noxious substances. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9389750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Agus, D. B., Gambhir, S. S., Pardridge, W. M., Spielholz, C., Baselga, J., Vera, J. C., Golde, D. W. <strong>Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters.</strong> J. Clin. Invest. 100: 2842-2848, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9389750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9389750</a>] [<a href="https://doi.org/10.1172/JCI119832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9389750">Agus et al. (1997)</a> provided evidence that GLUT1 also transports dehydroascorbic acid (the oxidized form of vitamin C) into the brain. Vitamin C concentrations in the brain exceed those in blood by 10 fold. In both tissues, the vitamin is present primarily in the reduced form, ascorbic acid. <a href="#1" class="mim-tip-reference" title="Agus, D. B., Gambhir, S. S., Pardridge, W. M., Spielholz, C., Baselga, J., Vera, J. C., Golde, D. W. <strong>Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters.</strong> J. Clin. Invest. 100: 2842-2848, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9389750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9389750</a>] [<a href="https://doi.org/10.1172/JCI119832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9389750">Agus et al. (1997)</a> showed that ascorbic acid is not able to cross the blood-brain barrier; in contrast, dehydroascorbic acid readily enters the brain and is retained in the brain tissue in the form of ascorbic acid. Transport of dehydroascorbic acid into the brain is inhibited by D-glucose, but not by L-glucose. Thus, transport of dehydroascorbic acid by GLUT1 is a mechanism by which the brain acquires vitamin C. The studies of <a href="#1" class="mim-tip-reference" title="Agus, D. B., Gambhir, S. S., Pardridge, W. M., Spielholz, C., Baselga, J., Vera, J. C., Golde, D. W. <strong>Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters.</strong> J. Clin. Invest. 100: 2842-2848, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9389750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9389750</a>] [<a href="https://doi.org/10.1172/JCI119832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9389750">Agus et al. (1997)</a> pointed to the oxidation of ascorbic acid as a potentially important regulatory step in accumulation of the vitamin by the brain. These results have implications for increasing antioxidant potential in the central nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9389750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Lazar, V., Bidart, J.-M., Caillou, B., Mahe, C., Lacroix, L., Filetti, S., Schlumberger, M. <strong>Expression of the Na(+)/I(-) symporter gene in human thyroid tumors: a comparison study with other thyroid-specific genes.</strong> J. Clin. Endocr. Metab. 84: 3228-3234, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10487692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10487692</a>] [<a href="https://doi.org/10.1210/jcem.84.9.5996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10487692">Lazar et al. (1999)</a> studied the expression of 4 thyroid-specific genes (sodium-iodide symporter (NIS, or SLC5A5; <a href="/entry/601843">601843</a>), thyroid peroxidase (TPO; <a href="/entry/606765">606765</a>), thyroglobulin (TG; <a href="/entry/188450">188450</a>), and thyroid-stimulating hormone receptor (TSHR; <a href="/entry/603372">603372</a>)) as well as the gene encoding GLUT1 in 90 human thyroid tissues. mRNAs were extracted from 43 thyroid carcinomas (38 papillary and 5 follicular), 24 cold adenomas, 5 Graves thyroid tissues, 8 toxic adenomas, and 5 hyperplastic thyroid tissues; 5 normal thyroid tissues were used as reference. Expression of the GLUT1 gene was increased in 1 of 24 (4%) adenomas and in 8 of 43 (19%) thyroid carcinomas. 3 patients with normal GLUT1 expression had 131-I uptake in metastases, whereas the other 3 patients with increased GLUT1 gene expression had no detectable 131-I uptake. The authors concluded that an increased expression of GLUT1 in some malignant tumors may suggest a role for glucose-derivative tracers to detect in vivo thyroid cancer metastases by positron-emission tomography scanning. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10487692" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Translational repression of GLUT1 in glioblastoma multiforme (GBM; <a href="/entry/137800">137800</a>) is mediated by a specific RNA-binding protein that interacts with an AU-rich response element in the 3-prime UTR of the GLUT1 transcript. <a href="#14" class="mim-tip-reference" title="Hamilton, B. J., Nichols, R. C., Tsukamoto, H., Boado, R. J., Pardridge, W. M., Rigby, W. F. C. <strong>hnRNP A2 and hnRNP L bind the 3-prime UTR of glucose transporter 1 mRNA and exist as a complex in vivo.</strong> Biochem. Biophys. Res. Commun. 261: 646-651, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10441480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10441480</a>] [<a href="https://doi.org/10.1006/bbrc.1999.1040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10441480">Hamilton et al. (1999)</a> showed that HNRNPA2 (<a href="/entry/600124">600124</a>) and HNRNPL (<a href="/entry/603083">603083</a>) bound the 3-prime UTR of GLUT1 mRNA. Induction of brain ischemia in rats or hypoglycemic stress in 293 cells increased GLUT1 expression via mRNA stability. Polysomes isolated from ischemic rat brains or hypoglycemic 293 cells showed loss of HNRNPA2 and HNRNPL, suggesting that reduced levels of these RNA-binding proteins results in GLUT1 mRNA stability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10441480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Manel, N., Kim, F. J., Kinet, S., Taylor, N., Sitbon, M., Battini, J.-L. <strong>The ubiquitous glucose transporter GLUT-1 is a receptor for HTLV.</strong> Cell 115: 449-459, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14622599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14622599</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00881-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14622599">Manel et al. (2003)</a> showed that the receptor-binding domains of the HTLV-1 and -2 envelope glycoproteins inhibited glucose transport by interacting with GLUT1, the ubiquitous vertebrate glucose transporter. Receptor binding and HTLV envelope-driven infection were selectively inhibited when glucose transport or GLUT1 expression were blocked by cytochalasin B or siRNAs, respectively. Furthermore, ectopic expression of GLUT1, but not the related transporter GLUT3 (<a href="/entry/138170">138170</a>), restored HTLV infection abrogated by either GLUT1 siRNAs or interfering HTLV envelope glycoproteins. <a href="#26" class="mim-tip-reference" title="Manel, N., Kim, F. J., Kinet, S., Taylor, N., Sitbon, M., Battini, J.-L. <strong>The ubiquitous glucose transporter GLUT-1 is a receptor for HTLV.</strong> Cell 115: 449-459, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14622599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14622599</a>] [<a href="https://doi.org/10.1016/s0092-8674(03)00881-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14622599">Manel et al. (2003)</a> concluded that GLUT1 is a receptor for HTLV and suggested that perturbations in glucose metabolism resulting from interactions of HTLV envelope glycoproteins with GLUT1 are likely to contribute to HTLV-associated disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14622599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Roach, W., Plomann, M. <strong>PACSIN3 overexpression increases adipocyte glucose transport through GLUT1.</strong> Biochem. Biophys. Res. Commun. 355: 745-750, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17320047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17320047</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17320047[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.bbrc.2007.02.025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17320047">Roach and Plomann (2007)</a> found that overexpression of PACSIN3 (<a href="/entry/606513">606513</a>) elevated glucose transport by increasing the content of GLUT1 in the plasma membrane, despite the total amount of cellular GLUT1 remaining unchanged. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17320047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Montel-Hagen, A., Kinet, S., Manel, N., Mongellaz, C., Prohaska, R., Battini, J.-L., Delaunay, J., Sitbon, M., Taylor, N. <strong>Erythrocyte Glut1 triggers dehydroascorbic acid uptake in mammals unable to synthesize vitamin C.</strong> Cell 132: 1039-1048, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18358815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18358815</a>] [<a href="https://doi.org/10.1016/j.cell.2008.01.042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18358815">Montel-Hagen et al. (2008)</a> stated that, of all human cell lineages, erythrocytes express the highest level of GLUT1, with more than 200,000 molecules per cell. They showed that GLUT1 preferentially transported L-dehydroascorbic acid (DHA) rather than glucose in human erythrocytes. This switch from glucose to DHA was associated with induction of stomatin (EPB72; <a href="/entry/133090">133090</a>), an integral erythrocyte membrane protein. Accordingly, in a patient with overhydrated hereditary stomatocytosis (<a href="/entry/185000">185000</a>), a disorder characterized by low stomatin levels, DHA transport was decreased by 50%, while glucose uptake was significantly increased. <a href="#29" class="mim-tip-reference" title="Montel-Hagen, A., Kinet, S., Manel, N., Mongellaz, C., Prohaska, R., Battini, J.-L., Delaunay, J., Sitbon, M., Taylor, N. <strong>Erythrocyte Glut1 triggers dehydroascorbic acid uptake in mammals unable to synthesize vitamin C.</strong> Cell 132: 1039-1048, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18358815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18358815</a>] [<a href="https://doi.org/10.1016/j.cell.2008.01.042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18358815">Montel-Hagen et al. (2008)</a> found that erythrocyte-specific GLUT1 expression and DHA transport are specific traits of vitamin C-deficient mammalian species, encompassing only higher primates, guinea pigs, and fruit bats. Adult mouse erythrocytes expressed Glut4 rather than Glut1 and did not transport DHA. <a href="#29" class="mim-tip-reference" title="Montel-Hagen, A., Kinet, S., Manel, N., Mongellaz, C., Prohaska, R., Battini, J.-L., Delaunay, J., Sitbon, M., Taylor, N. <strong>Erythrocyte Glut1 triggers dehydroascorbic acid uptake in mammals unable to synthesize vitamin C.</strong> Cell 132: 1039-1048, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18358815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18358815</a>] [<a href="https://doi.org/10.1016/j.cell.2008.01.042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18358815">Montel-Hagen et al. (2008)</a> concluded that induction of GLUT1 and stomatin during erythroid differentiation is a compensatory mechanism in mammals unable to synthesize vitamin C. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18358815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By studying the transcriptomes of paired colorectal cancer cell lines that differed only in the mutational status of their KRAS (<a href="/entry/190070">190070</a>) or BRAF (<a href="/entry/164757">164757</a>) genes, <a href="#58" class="mim-tip-reference" title="Yun, J., Rago, C., Cheong, I., Pagliarini, R., Angenendt, P., Rajagopalan, H., Schmidt, K., Willson, J. K. V., Markowitz, S., Zhou, S., Diaz, L. A., Jr., Velculescu, V. E., Lengauer, C., Kinzler, K. W., Vogelstein, B., Papadopoulos, N. <strong>Glucose deprivation contributes to the development of KRAS pathway mutations in tumor cells.</strong> Science 325: 1555-1559, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19661383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19661383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19661383[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1174229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19661383">Yun et al. (2009)</a> found that GLUT1 was 1 of 3 genes consistently upregulated in cells with KRAS or BRAF mutations. The mutant cells exhibited enhanced glucose uptake and glycolysis and survived in low-glucose conditions, phenotypes that all required GLUT1 expression. In contrast, when cells with wildtype KRAS alleles were subjected to a low-glucose environment, very few cells survived. Most surviving cells expressed high levels of GLUT1, and 4% of these survivors had acquired KRAS mutations not present in their parents. The glycolysis inhibitor 3-bromopyruvate preferentially suppressed the growth of cells with KRAS or BRAF mutations. <a href="#58" class="mim-tip-reference" title="Yun, J., Rago, C., Cheong, I., Pagliarini, R., Angenendt, P., Rajagopalan, H., Schmidt, K., Willson, J. K. V., Markowitz, S., Zhou, S., Diaz, L. A., Jr., Velculescu, V. E., Lengauer, C., Kinzler, K. W., Vogelstein, B., Papadopoulos, N. <strong>Glucose deprivation contributes to the development of KRAS pathway mutations in tumor cells.</strong> Science 325: 1555-1559, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19661383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19661383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19661383[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.1174229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19661383">Yun et al. (2009)</a> concluded that, taken together, these data suggested that glucose deprivation can drive the acquisition of KRAS pathway mutations in human tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19661383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Lee, E. E., Ma, J., Sacharidou, A., Mi, W., Salato, V. K., Nguyen, N., Jiang, Y., Pascual, J. M., North, P. E., Shaul, P. W., Mettlen, M., Wang, R. C. <strong>A protein kinase C phosphorylation motif in GLUT1 affects glucose transport and is mutated in GLUT1 deficiency syndrome.</strong> Molec. Cell 58: 845-853, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25982116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25982116</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25982116[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.molcel.2015.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25982116">Lee et al. (2015)</a> identified serine-226 (S226) in GLUT1 as a protein kinase C (PKC) phosphorylation site. In vitro kinase studies, mass spectrometry, and phosphospecific antibody studies showed that phosphorylation of S226 was required for enhanced cell surface localization of GLUT1 and for a rapid increase in glucose uptake under induced conditions in endothelial cells. Several naturally occurring GLUT1 mutations (see, e.g., R223P, <a href="#0020">138140.0020</a>) impaired the phosphorylation of S226, resulting in decreased responsiveness of surface relocalization of GLUT1 despite the presence of endogenous GLUT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25982116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Role in Diabetes</em></strong></p><p>
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Insulin increases glucose uptake in responsive cells by inducing the rapid translocation of glucose transporters from an intracellular storage pool to the plasma membrane. <a href="#23" class="mim-tip-reference" title="Li, S. R., Baroni, M. G., Oelbaum, R. S., Stock, J., Galton, D. J. <strong>Association of genetic variant of the glucose transporter with non-insulin-dependent diabetes mellitus.</strong> Lancet 332: 368-370, 1988. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2899775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2899775</a>] [<a href="https://doi.org/10.1016/s0140-6736(88)92836-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2899775">Li et al. (1988)</a> demonstrated a significantly increased frequency of the X1 allele (the 6.2 kb fragment recognized by the human glucose transporter cDNA) among 89 patients with noninsulin-dependent diabetes mellitus (NIDDM; <a href="/entry/125853">125853</a>) from 3 different ethnic populations. They suggested that the observed association may reflect linkage of the X1 allele to a putative diabetogenic locus on chromosome 1; they hypothesized that the glucose transporter gene itself may be a major genetic determinant for noninsulin-dependent diabetes mellitus. <a href="#5" class="mim-tip-reference" title="Baroni, M. G., Oelbaum, R. S., Pozzilli, P., Stocks, J., Li, S.-R., Fiore, V., Galton, D. J. <strong>Polymorphisms at the GLUT1 (HepG2) and GLUT4 (muscle/adipocyte) glucose transporter genes and non-insulin-dependent diabetes mellitus (NIDDM).</strong> Hum. Genet. 88: 557-561, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1348045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1348045</a>] [<a href="https://doi.org/10.1007/BF00219344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1348045">Baroni et al. (1992)</a> extended the data suggesting an association between polymorphic markers at the GLUT1 locus and NIDDM in the Italian population studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2899775+1348045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#45" class="mim-tip-reference" title="Shepherd, P. R., Kahn, B. B. <strong>Glucose transporters and insulin action: implications for insulin resistance and diabetes mellitus.</strong> New Eng. J. Med. 341: 248-257, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10413738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10413738</a>] [<a href="https://doi.org/10.1056/NEJM199907223410406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10413738">Shepherd and Kahn (1999)</a> discussed in detail the role of glucose transporters in insulin action and the implications for insulin resistance and diabetes mellitus. In their Table 1, they presented 5 forms of GLUT (GLUT1-5) and gave the approximate K(m) for glucose and the tissue distribution and characteristics of each. They pointed out that GLUT4 (<a href="/entry/138190">138190</a>) is the main insulin-responsive glucose transporter, being located primarily in muscle cells and adipocytes. The role of GLUT4 in the mechanism of effectiveness of drug therapy for diabetes was reviewed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10413738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Lohmueller, K. E., Pearce, C. L., Pike, M., Lander, E. S., Hirschhorn, J. N. <strong>Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease.</strong> Nature Genet. 33: 177-182, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12524541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12524541</a>] [<a href="https://doi.org/10.1038/ng1071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12524541">Lohmueller et al. (2003)</a> performed a metaanalysis of 301 published genetic association studies covering 25 different reported associations. For 8 of the associations, pooled analysis of follow-up studies yielded statistically significant replication of the first report, with modest estimated genetic effects. One of these 8 was the association between type II diabetes and an XbaI RFLP (6.2-kb allele) of the SLC2A1 gene, as first reported by <a href="#23" class="mim-tip-reference" title="Li, S. R., Baroni, M. G., Oelbaum, R. S., Stock, J., Galton, D. J. <strong>Association of genetic variant of the glucose transporter with non-insulin-dependent diabetes mellitus.</strong> Lancet 332: 368-370, 1988. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2899775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2899775</a>] [<a href="https://doi.org/10.1016/s0140-6736(88)92836-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2899775">Li et al. (1988)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2899775+12524541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>GLUT1 Deficiency Syndrome 1</em></strong></p><p>
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In patients with a transport defect of glucose across the blood-brain barrier, consistent with GLUT1 deficiency syndrome-1 (GLUT1DS1; <a href="/entry/606777">606777</a>), <a href="#43" class="mim-tip-reference" title="Seidner, G., Alvarez, M. G., Yeh, J.-I., O'Driscoll, K. R., Klepper, J., Stump, T. S., Wang, D., Spinner, N. B., Birnbaum, M. J., De Vivo, D. C. <strong>GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.</strong> Nature Genet. 18: 188-191, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9462754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9462754</a>] [<a href="https://doi.org/10.1038/ng0298-188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9462754">Seidner et al. (1998)</a> identified heterozygous mutations in the SLC2A1 gene (<a href="#0001">138140.0001</a>-<a href="#0003">138140.0003</a>). Two of the patients had been reported by <a href="#9" class="mim-tip-reference" title="De Vivo, D. C., Trifiletti, R. R., Jacobson, R. I., Ronen, G. M., Behmand, R. A., Harik, S. I. <strong>Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.</strong> New Eng. J. Med. 325: 703-709, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1714544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1714544</a>] [<a href="https://doi.org/10.1056/NEJM199109053251006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1714544">De Vivo et al. (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9462754+1714544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Klepper, J., Willemsen, M., Verrips, A., Guertsen, E., Herrmann, R., Kutzick, C., Florcken, A., Voit, T. <strong>Autosomal dominant transmission of GLUT1 deficiency.</strong> Hum. Molec. Genet. 10: 63-68, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11136715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11136715</a>] [<a href="https://doi.org/10.1093/hmg/10.1.63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11136715">Klepper et al. (2001)</a> reported a father and 2 children from separate marriages who were affected by GLUT1 deficiency, and confirmed autosomal dominant transmission by identifying a heterozygous mutation in the GLUT1 gene (G91D; <a href="#0006">138140.0006</a>). The father developed generalized tonic-clonic seizures and myoclonic seizures at age 3 years. As an adult, he had mild mental retardation, depression, and migraine. One daughter had mild spastic diplegia at age 9 months and showed developmental delay over the next 2 years. At age 3, she developed complex partial seizures. At age 10, she had moderate mental retardation, cerebellar ataxia, and mild pyramidal signs of the legs. The second daughter showed developmental delay, spastic diplegia, and generalized tonic-clonic seizures at age 2 years. Physical exam at age 22 years revealed moderate mental retardation, cerebellar ataxia, and spastic tetraplegia that predominantly involved the legs. The 2 daughters both had hypoglycorrhachia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11136715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 16 patients with GLUT1 deficiency, <a href="#53" class="mim-tip-reference" title="Wang, D., Pascual, J. M., Yang, H., Engelstad, K., Jhung, S., Sun, R. P., De Vivo, D. C. <strong>Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.</strong> Ann. Neurol. 57: 111-118, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622525</a>] [<a href="https://doi.org/10.1002/ana.20331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15622525">Wang et al. (2005)</a> identified 16 different mutations in the SLC2A1 gene; 14 of the mutations were novel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15622525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Stomatin-Deficient Cryohydrocytosis with Neurologic Defects</em></strong></p><p>
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In 2 unrelated patients with stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; <a href="/entry/608885">608885</a>), originally reported by <a href="#12" class="mim-tip-reference" title="Fricke, B., Jarvis, H. G., Reid, C. D. L., Aguilar-Martinez, P., Robert, A., Quittet, P., Chetty, M., Pizzey, A., Cynober, T., Lande, W. F., Mentzer, W. C., von During, M., Winter, S., Delaunay, J., Stewart, G. W. <strong>Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.</strong> Brit. J. Haemat. 125: 796-803, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15180870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15180870</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.04965.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15180870">Fricke et al. (2004)</a>, <a href="#11" class="mim-tip-reference" title="Flatt, J. F., Guizouarn, H., Burton, N. M., Borgese, F., Tomlinson, R. J., Forsyth, R. J., Baldwin, S. A., Levinson, B. E., Quittet, P., Aguilar-Martinez, P., Delaunay, J., Stewart, G. W., Bruce, L. J. <strong>Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.</strong> Blood 118: 5267-5277, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21791420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21791420</a>] [<a href="https://doi.org/10.1182/blood-2010-12-326645" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21791420">Flatt et al. (2011)</a> identified 2 different heterozygous mutations in the SLC2A1 gene (<a href="#0023">138140.0023</a> and <a href="#0024">138140.0024</a>). In vitro functional expression assays in Xenopus oocytes showed that the mutant proteins did not transport glucose and leaked cations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21791420+15180870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an infant with SDCHCN, <a href="#6" class="mim-tip-reference" title="Bawazir, W. M., Gevers, E. F., Flatt, J. F., Ang, A. L., Jacobs, B., Oren, C., Grunewald, S., Dattani, M., Bruce, L. J., Stewart, G. W. <strong>An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.</strong> J. Clin. Endocr. Metab. 97: E987-E993, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22492876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22492876</a>] [<a href="https://doi.org/10.1210/jc.2012-1399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22492876">Bawazir et al. (2012)</a> identified a de novo heterozygous mutation in the SLC2A1 gene (<a href="#0024">138140.0024</a>); the same mutation was identified in 1 of the patients reported by <a href="#11" class="mim-tip-reference" title="Flatt, J. F., Guizouarn, H., Burton, N. M., Borgese, F., Tomlinson, R. J., Forsyth, R. J., Baldwin, S. A., Levinson, B. E., Quittet, P., Aguilar-Martinez, P., Delaunay, J., Stewart, G. W., Bruce, L. J. <strong>Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.</strong> Blood 118: 5267-5277, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21791420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21791420</a>] [<a href="https://doi.org/10.1182/blood-2010-12-326645" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21791420">Flatt et al. (2011)</a>. Western blot analysis showed that GLUT1 was expressed normally at the red cell membrane, whereas stomatin (STOM; <a href="/entry/133090">133090</a>) levels were decreased. The authors suggested that the multisystem pathology in this disorder likely reflects a combination of glucose transport deficiency at the blood-brain barrier, resulting in neurologic deficits consistent with GLUT1 deficiency syndrome-1 (GLUT1DS1; <a href="/entry/606777">606777</a>), and red cell membrane cation defects, resulting in pseudohyperkalemia and red cell hemolysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22492876+21791420" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>GLUT1 Deficiency Syndrome 2</em></strong></p><p>
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<a href="#31" class="mim-tip-reference" title="Overweg-Plandsoen, W. C. G., Groener, J. E. M., Wang, D., Onkenhout, W., Brouwer, O. F., Bakker, H. D., De Vivo, D. C. <strong>GLUT-1 deficiency without epilepsy--an exceptional case.</strong> J. Inherit. Metab. Dis. 26: 559-563, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14605501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14605501</a>] [<a href="https://doi.org/10.1023/a:1025999914822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14605501">Overweg-Plandsoen et al. (2003)</a> reported a 6-year-old boy with GLUT1 deficiency who had delayed psychomotor development, moderate mental retardation, horizontal nystagmus, dysarthria, limb ataxia, hyperreflexia, and dystonic posturing of the limbs, consistent with GLUT1 deficiency syndrome-2 (GLUT1DS2; <a href="/entry/612126">612126</a>). He had never had seizures. The motor activity and coordination fluctuated throughout the day, which was unrelated to food intake. Laboratory studies showed hypoglycorrhachia and low CSF lactate. Genetic analysis identified a de novo heterozygous mutation in the GLUT1 gene (N34I; <a href="#0011">138140.0011</a>). A ketogenic diet helped with the motor symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14605501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 3 unrelated families with paroxysmal exercise-induced dyskinesias (PED) consistent with GLUT1DS2, <a href="#56" class="mim-tip-reference" title="Weber, Y. G., Storch, A., Wuttke, T. V., Brockmann, K., Kempfle, J., Maljevic, S., Margari, L., Kamm, C., Schneider, S. A., Huber, S. M., Pekrun, A., Roebling, R., and 17 others. <strong>GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.</strong> J. Clin. Invest. 118: 2157-2168, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18451999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18451999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18451999[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI34438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18451999">Weber et al. (2008)</a> identified 3 different heterozygous mutations in the SLC2A1 gene (<a href="#0008">138140.0008</a>-<a href="#0010">138140.0010</a>). The phenotype was characterized by childhood onset of paroxysmal exertion-induced dyskinesias. One family also had hematologic abnormalities consistent with hemolytic anemia. Based on these findings and brain imaging studies, <a href="#56" class="mim-tip-reference" title="Weber, Y. G., Storch, A., Wuttke, T. V., Brockmann, K., Kempfle, J., Maljevic, S., Margari, L., Kamm, C., Schneider, S. A., Huber, S. M., Pekrun, A., Roebling, R., and 17 others. <strong>GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.</strong> J. Clin. Invest. 118: 2157-2168, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18451999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18451999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18451999[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI34438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18451999">Weber et al. (2008)</a> concluded that the dyskinesias resulted from an exertion-induced energy deficit causing episodic dysfunction in the basal ganglia. The hemolysis observed in 1 family was demonstrated in vitro in Xenopus oocytes and human erythrocytes to result from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18451999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a large Belgian family segregating PED and epilepsy, <a href="#49" class="mim-tip-reference" title="Suls, A., Dedeken, P., Goffin, K., Van Esch, H., Dupont, P., Cassiman, D., Kempfle, J., Wuttke, T. V., Weber, Y., Lerche, H., Afawi, Z., Vandenberghe, W., and 15 others. <strong>Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.</strong> Brain 131: 1831-1844, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18577546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18577546</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18577546[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awn113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18577546">Suls et al. (2008)</a> identified a heterozygous missense mutation in the GLUT1 gene (S95I; <a href="#0012">138140.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18577546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Schneider, S. A., Paisan-Ruiz, C., Garcia-Gorostiaga, I., Quinn, N. P., Weber, Y. G., Lerche, H., Hardy, J., Bhatia, K. P. <strong>GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.</strong> Mov. Disord. 24: 1684-1696, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19630075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19630075</a>] [<a href="https://doi.org/10.1002/mds.22507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19630075">Schneider et al. (2009)</a> identified 2 different de novo heterozygous mutations in the GLUT1 gene (see, e.g., <a href="#0015">138140.0015</a>) in 2 of 10 unrelated Caucasian patients with paroxysmal exercise-induced dyskinesias. One of the patients had childhood onset of absence epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19630075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Susceptibility to Idiopathic Generalized Epilepsy 12</em></strong></p><p>
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<a href="#50" class="mim-tip-reference" title="Suls, A., Mullen, S. A., Weber, Y. G., Verhaert, K., Ceulemans, B., Guerrini, R., Wuttke, T. V., Salvo-Vargas, A., Deprez, L., Claes, L. R. F., Jordanova, A., Berkovic, S. F., Lerche, H., De Jonghe, P., Scheffer, I. E. <strong>Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.</strong> Ann. Neurol. 66: 415-419, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19798636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19798636</a>] [<a href="https://doi.org/10.1002/ana.21724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19798636">Suls et al. (2009)</a> identified heterozygous mutations (see, e.g., <a href="#0020">138140.0020</a>) in the SLC2A1 gene in 4 (12%) of 34 patients with early-onset absence epilepsy before age 4 years (EIG12; <a href="/entry/614847">614847</a>). CSF glucose levels were not available from any of the patients. One of the patients had no additional abnormalities and normal development. However, clinical review of these patients after diagnosis showed that 3 had mild to moderate mental retardation, 2 had mild ataxia, and 1 had myoclonus and exercise-induced paroxysmal dyskinesia. None had microcephaly. Two patients inherited missense mutations from parents with later-onset absence epilepsy. The findings further expanded the phenotype associated with SLC2A1 mutations, and suggested that patients with onset of absence seizures before age 4 years in particular should be screened for mutations in this gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19798636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 8 affected members of an Italian family with idiopathic generalized epilepsy-12 manifest mainly as childhood-onset absence seizures, <a href="#48" class="mim-tip-reference" title="Striano, P., Weber, Y. G., Toliat, M. R., Schubert, J., Leu, C., Chaimana, R., Baulac, S., Guerrero, R., LeGuern, E., Lehesjoki, A.-E., Polvi, A., Robbiano, A., Serratosa, J. M., Guerrini, R., Nurnberg, P., Sander, T., Zara, F., Lerche, H., Marini, C. <strong>GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.</strong> Neurology 78: 557-562, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22282645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22282645</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318247ff54" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22282645">Striano et al. (2012)</a> identified a heterozygous mutation in the SLC2A1 gene (R232C; <a href="#0019">138140.0019</a>). The mutation was also found in 4 healthy adult family members, yielding a reduced penetrance of 67%. In vitro functional studies showed that the mutant protein was expressed at the cell surface but had mildly decreased glucose uptake (70%) compared to wildtype. The mutation was found in 1 of 95 families with EIG. These findings suggested that GLUT1 deficiency is a rare cause of typical EIG, and also expanded the phenotypic spectrum associated with mutations in the SLC2A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22282645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Dystonia 9</em></strong></p><p>
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In affected members of the family with autosomal dominant dystonia-9 (DYT9; <a href="/entry/601042">601042</a>) originally reported by <a href="#4" class="mim-tip-reference" title="Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H. W., Leube, B., Binkofski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O. W., Voit, T. <strong>A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.</strong> Genomics 31: 90-94, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808284</a>] [<a href="https://doi.org/10.1006/geno.1996.0013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8808284">Auburger et al. (1996)</a>, <a href="#55" class="mim-tip-reference" title="Weber, Y. G., Kamm, C., Suls, A., Kempfle, J., Kotschet, K., Schule, R., Wuttke, T. V., Maljevic, S., Liebrich, J., Gasser, T., Ludolph, A. C., Van Paesschen, W., Schols, L., De Jonghe, P., Auburger, G., Lerche, H. <strong>Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.</strong> Neurology 77: 959-964, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21832227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21832227</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31822e0479" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21832227">Weber et al. (2011)</a> identified a heterozygous mutation in the SLC2A1 gene (R232C; <a href="#0018">138140.0018</a>). Two Australian brothers with the disorder carried a different heterozygous mutation (R126C; <a href="#0014">138140.0014</a>). The disorder was characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most showed some degree of cognitive impairment. Other variable features included seizures, migraine headaches, and ataxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8808284+21832227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Variant Function</em></strong></p><p>
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Using proteomics screening to investigate the effect of missense mutations in intrinsically disordered regions (IDRs) of proteins on protein-protein interactions, <a href="#27" class="mim-tip-reference" title="Meyer, K., Kirchner, M., Uyar, B., Cheng, J.-Y., Russo, G., Hernandez-Miranda, L. R., Szymborska, A., Zauber, H., Rudolph, I.-M., Willnow, T. E., Akalin, A., Haucke, V., Gerhardt, H., Birchmeier, C., Kuhn, R., Krauss, M., Diecke, S., Pascual, J. M., Selbach, M. <strong>Mutations in disordered regions can cause disease by creating dileucine motifs.</strong> Cell 175: 239-253, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30197081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30197081</a>] [<a href="https://doi.org/10.1016/j.cell.2018.08.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30197081">Meyer et al. (2018)</a> identified 3 mutations in cytosolic tails of 3 different transmembrane proteins that create dileucine motifs and lead to increased binding of clathrin. The authors selected the P485L mutation in GLUT1, which had been identified in GLUT1 deficiency, to characterize functionally. Expression analysis in HEK cells showed that the P485L mutation caused mislocalization of GLUT1 from the plasma membrane to endocytic compartments. Proximity-dependent biotin identification revealed that the mutant protein colocalized with proteins involved in membrane trafficking, clathrin-mediated endocytosis, and post-Golgi trafficking, in particular with all subunits of adaptor proteins AP1 (see <a href="/entry/607291">607291</a>), AP2 (see <a href="/entry/601024">601024</a>), and AP3 (see <a href="/entry/602416">602416</a>), which bind directly to both dileucine motifs and clathrin to mediate cellular transport. Pull-down assay demonstrated that mutant GLUT1 interacted with APs via its cytosolic tail, providing a molecular explanation for mistrafficking of clathrin by a glucose transporter. Further analysis revealed that the interaction between GLUT1 and AP2 also contributed to the internalization of GLUT1 from the plasma membrane, as the loss of AP2 rescued the mislocalization of mutated GLUT1 and increased glucose uptake by mutant GLUT1. In fibroblasts derived from a GLUT1-deficient patient harboring the P485L mutation reprogrammed into induced pluripotent stem cells, the mislocalization observed in HEK cells was recapitulated, validating the in vitro results. Moreover, knocking in the P485L mutation in mice resulted in the death of homozygous mutant pups immediately after birth, and histologic analysis in endothelial cells of the blood brain barrier from mutant mouse embryos found that the P485L mutation reduced GLUT1 levels in the plasma membrane in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30197081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In mouse preimplantation embryos, <a href="#28" class="mim-tip-reference" title="Moley, K. H., Chi, M. M.-Y., Mueckler, M. M. <strong>Maternal hyperglycemia alters glucose transport and utilization in mouse preimplantation embryos.</strong> Am. J. Physiol. 275: E38-E47, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9688872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9688872</a>] [<a href="https://doi.org/10.1152/ajpendo.1998.275.1.E38" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9688872">Moley et al. (1998)</a> found that glucose uptake was significantly lowered in embryos from diabetic mice compared to control mice. Diabetic embryos had significantly decreased levels of Glut1 mRNA and protein levels, indicating a decrease in glucose utilization directly related to a decrease in glucose transport. <a href="#8" class="mim-tip-reference" title="Chi, M. M.-Y., Pingsterhaus, J., Carayannopoulos, M., Moley, K. H. <strong>Decreased glucose transporter expression triggers BAX-dependent apoptosis in the murine blastocyst.</strong> J. Biol. Chem. 275: 40252-40257, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10995754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10995754</a>] [<a href="https://doi.org/10.1074/jbc.M005508200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10995754">Chi et al. (2000)</a> found that decreased Glut1 expression and function resulted in a high rate of apoptosis at the murine blastocyst stage via a Bax (<a href="/entry/600040">600040</a>)-dependent apoptotic cascade. The findings suggested that maternal hyperglycemia induces a cell death signal by decreasing glucose transport. This results in a loss of key progenitor cells during the blastocyst stage, which may manifest as embryonic resorption or malformation. In transgenic mice generated using antisense Glut1, <a href="#15" class="mim-tip-reference" title="Heilig, C. W., Saunders, T., Brosius, F. C., III, Moley, K., Heilig, K., Baggs, R., Guo, L., Conner, D. <strong>Glucose transporter-1-deficient mice exhibit impaired development and deformities that are similar to diabetic embryopathy.</strong> Proc. Nat. Acad. Sci. 100: 15613-15618, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14673082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14673082</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14673082[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2536196100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14673082">Heilig et al. (2003)</a> found reduction of glucose uptake, by 50% in presumed heterozygotes and 95% in presumed homozygotes, as well as developmental malformations associated with maternal diabetes, including intrauterine growth retardation, anencephaly, microphthalmia, and caudal regression syndrome, an impaired development of the hind portion of the embryo. Macrosomia was not observed. The homozygous Glut1 mutant phenotype was lethal during gestation, and reduced embryonic Glut1 was associated with apoptosis. <a href="#15" class="mim-tip-reference" title="Heilig, C. W., Saunders, T., Brosius, F. C., III, Moley, K., Heilig, K., Baggs, R., Guo, L., Conner, D. <strong>Glucose transporter-1-deficient mice exhibit impaired development and deformities that are similar to diabetic embryopathy.</strong> Proc. Nat. Acad. Sci. 100: 15613-15618, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14673082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14673082</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14673082[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2536196100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14673082">Heilig et al. (2003)</a> suggested that GLUT1 deficiency causes a decrease in embryonic glucose uptake and apoptosis, which may be involved in diabetic embryopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14673082+10995754+9688872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#54" class="mim-tip-reference" title="Wang, D., Pascual, J. M., Yang, H., Engelstad, K., Mao, X., Cheng, J., Yoo, J., Noebels, J. L., De Vivo, D. C. <strong>A mouse model for Glut-1 haploinsufficiency.</strong> Hum. Molec. Genet. 15: 1169-1179, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16497725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16497725</a>] [<a href="https://doi.org/10.1093/hmg/ddl032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16497725">Wang et al. (2006)</a> found that mice with targeted heterozygous disruption of the Glut1 gene developed spontaneous epileptiform discharges, impaired motor activity, incoordination, hypoglycorrhachia, decreased brain weight (microencephaly), decreased brain glucose uptake, and decreased expression of Glut1 in the brain (66% of controls). Homozygous mutant mice were embryonic lethal. <a href="#54" class="mim-tip-reference" title="Wang, D., Pascual, J. M., Yang, H., Engelstad, K., Mao, X., Cheng, J., Yoo, J., Noebels, J. L., De Vivo, D. C. <strong>A mouse model for Glut-1 haploinsufficiency.</strong> Hum. Molec. Genet. 15: 1169-1179, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16497725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16497725</a>] [<a href="https://doi.org/10.1093/hmg/ddl032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16497725">Wang et al. (2006)</a> suggested that Glut1 +/- mice mimics the classic human presentation of GLUT1 deficiency and can be used as an animal model to examine the pathophysiology of the disorder in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16497725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In zebrafish, <a href="#59" class="mim-tip-reference" title="Zheng, P.-P., Romme, E., van der Spek, P. J., Dirven, C. M. F., Willemsen, R., Kros, J. M. <strong>Glut1/SLC2A1 is crucial for the development of the blood-brain barrier in vivo.</strong> Ann. Neurol. 68: 835-844, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21194153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21194153</a>] [<a href="https://doi.org/10.1002/ana.22318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21194153">Zheng et al. (2010)</a> found that knockdown of Glut1 resulted in impaired development of cerebral endothelial cells, disruption of the junctional barrier of the blood-brain barrier, impaired cerebral circulation, and vasogenic brain edema. The authors concluded that Glut1 plays a role in the development of cerebral endothelial cells with properties of the blood-brain barrier. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21194153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The human T-cell leukemia (lymphoma) virus HTLV-1 was first isolated in the United States in cases of adult T-cell lymphoma and leukemia (Poiesz et al. (<a href="#33" class="mim-tip-reference" title="Poiesz, B. J., Ruscetti, F. W., Gazdar, A. F., Bunn, P. A., Minna, J. D., Gallo, R. C. <strong>Detection and isolation of type C retrovirus particles from fresh and cultured lymphocytes of a patient with cutaneous T-cell lymphoma.</strong> Proc. Nat. Acad. Sci. 77: 7415-7419, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6261256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6261256</a>] [<a href="https://doi.org/10.1073/pnas.77.12.7415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6261256">1980</a>, <a href="#34" class="mim-tip-reference" title="Poiesz, B. J., Ruscetti, F. W., Reitz, M. S., Kalyanaraman, V. S., Gallo, R. C. <strong>Isolation of a new type C retrovirus (HTLV) in primary uncultured cells of a patient with Sezary T-cell leukemia.</strong> Nature 294: 268-271, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6272125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6272125</a>] [<a href="https://doi.org/10.1038/294268a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6272125">1981</a>); <a href="#13" class="mim-tip-reference" title="Gallo, R. C., Mann, D., Broder, S., Ruscetti, F. W., Maeda, M., Kalyanaraman, V. S., Robert-Guroff, M., Reitz, M. S. <strong>Human T-cell leukemia-lymphoma virus (HTLV) is in T but not B lymphocytes from a patient with cutaneous T-cell lymphoma.</strong> Proc. Nat. Acad. Sci. 79: 5680-5683, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6982476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6982476</a>] [<a href="https://doi.org/10.1073/pnas.79.18.5680" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6982476">Gallo et al., 1982</a>). Subsequently it was found associated with T-cell leukemia in patients in Japan and the West Indies by detection of HTLV-specific antibodies in the serum. <a href="#40" class="mim-tip-reference" title="Sarin, P. S., Aoki, T., Shibata, A., Ohnishi, Y., Aoyagi, Y., Miyakoshi, H., Emura, I., Kalyanaraman, V. S., Robert-Guroff, M., Popovic, M., Sarngadharan, M., Nowell, P. C., Gallo, R. C. <strong>High incidence of human type-C retrovirus (HTLV) in family members of a HTLV-positive Japanese T-cell leukemia patient.</strong> Proc. Nat. Acad. Sci. 80: 2370-2374, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6300913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6300913</a>] [<a href="https://doi.org/10.1073/pnas.80.8.2370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6300913">Sarin et al. (1983)</a> found a Japanese family in which one member, a 21-year-old college student, had acute T-cell leukemia and his mother had morphologically abnormal lymphocytes with convoluted nuclei typically found in T-cell leukemia or lymphoma patients. Other family members, with the exception of the patient's sister, either had HTLV-related serum antibodies or expressed HTLV-related antigens (or both) in cultured T cells and expressed HTLV-1 particles. Acute T-cell leukemia is relatively frequent in natives of Kyushu and Shikoku in southwestern Japan. The family described by <a href="#40" class="mim-tip-reference" title="Sarin, P. S., Aoki, T., Shibata, A., Ohnishi, Y., Aoyagi, Y., Miyakoshi, H., Emura, I., Kalyanaraman, V. S., Robert-Guroff, M., Popovic, M., Sarngadharan, M., Nowell, P. C., Gallo, R. C. <strong>High incidence of human type-C retrovirus (HTLV) in family members of a HTLV-positive Japanese T-cell leukemia patient.</strong> Proc. Nat. Acad. Sci. 80: 2370-2374, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6300913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6300913</a>] [<a href="https://doi.org/10.1073/pnas.80.8.2370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6300913">Sarin et al. (1983)</a> was from Honshu in northwestern Japan and had no family ties to the 2 endemic areas. No consistent cytogenetic abnormality was found. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6982476+6261256+6300913+6272125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>HTLV-1 and HTLV-2 can infect many types of human cells in vitro. Blocking assays of syncytium formation and of vesicular stomatitis virus pseudotypes bearing the envelope glycoproteins of HTLV show that these 2 viruses utilize the same cell surface receptor. Since the above-mentioned pseudotypes have a low plating efficiency on murine cells compared to human cells, <a href="#47" class="mim-tip-reference" title="Sommerfelt, M. A., Williams, B. P., Clapham, P. R., Solomon, E., Goodfellow, P. N., Weiss, R. A. <strong>Human T cell leukemia viruses use a receptor determined by human chromosome 17.</strong> Science 242: 1557-1559, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3201246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3201246</a>] [<a href="https://doi.org/10.1126/science.3201246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3201246">Sommerfelt et al. (1988)</a> were able to use human-mouse somatic cell hybrids to determine which human chromosome confers susceptibility to HTLV infection. The only human chromosome common to all susceptible cell hybrids was chromosome 17; the receptor gene was further localized to 17cen-qter. The receptor is probably a previously unidentified surface antigen because antibodies to nonsurface antigens did not block the HTLV receptor. It may be significant that in vivo HTLV-1 appears to integrate preferentially into chromosomes 7 and 17 (<a href="#44" class="mim-tip-reference" title="Seiki, M., Eddy, R., Shows, T. B., Yoshida, M. <strong>Nonspecific integration of the HTLV provirus genome into adult T-cell leukaemia cells.</strong> Nature 309: 640-642, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6328324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6328324</a>] [<a href="https://doi.org/10.1038/309640a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6328324">Seiki et al., 1984</a>) and that rearrangements involving these chromosomes have been noted in adult T-cell leukemia cells. Furthermore, <a href="#16" class="mim-tip-reference" title="Hinrichs, S. H., Nerenberg, M., Reynolds, R. K., Khoury, G., Jay, G. <strong>A transgenic mouse model for human neurofibromatosis.</strong> Science 237: 1340-1343, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2888191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2888191</a>] [<a href="https://doi.org/10.1126/science.2888191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2888191">Hinrichs et al. (1987)</a> found that transgenic mice expressing the tat gene of HTLV-1 develop a syndrome resembling neurofibromatosis (<a href="/entry/162200">162200</a>), a disorder that has been localized to human chromosome 17cen-q21. The only other retroviral receptor molecule unequivocally identified was the CD4 leukocyte antigen, which is used by HIV viruses involved in AIDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2888191+3201246+6328324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>HTLV-1 is etiologically associated with adult T-cell leukemia/lymphoma and tropical spastic paraparesis (see <a href="/entry/159580">159580</a>), while HTLV-2 is associated with T-cell hairy cell leukemia (HCL) (<a href="#37" class="mim-tip-reference" title="Rosenblatt, J. D., Golde, D. W., Wachsman, W., Giorgi, J. V., Jacobs, A., Schmidt, G. M., Quan, S., Gasson, J. C., Chen, I. S. <strong>A second isolate of HTLV-II associated with atypical hairy-cell leukemia.</strong> New Eng. J. Med. 315: 372-377, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3016537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3016537</a>] [<a href="https://doi.org/10.1056/NEJM198608073150606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3016537">Rosenblatt et al., 1986</a>). <a href="#35" class="mim-tip-reference" title="Ratner, L., Vander Heyden, N., Paine, E., Frei-Lahr, D., Brown, R., Petruska, P., Reddy, S., Lairmore, M. D. <strong>Familial adult T-cell leukemia lymphoma.</strong> Am. J. Hemat. 34: 215-222, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2194393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2194393</a>] [<a href="https://doi.org/10.1002/ajh.2830340312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2194393">Ratner et al. (1990)</a> described the cases of an adult black brother and sister who developed adult T-cell leukemia/lymphoma resulting from infection from HTLV-1. Both had lived almost exclusively in the area of St. Louis, Missouri. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2194393+3016537" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Based on the fact that HTLV infection induces syncytium formation of infected cells as a result of interaction between the viral envelope and viral receptor, <a href="#51" class="mim-tip-reference" title="Tajima, Y., Tashiro, K., Camerini, D. <strong>Assignment of the possible HTLV receptor gene to chromosome 17q21-q23.</strong> Somat. Cell Molec. Genet. 23: 225-227, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9330634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9330634</a>] [<a href="https://doi.org/10.1007/BF02721374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9330634">Tajima et al. (1997)</a> performed a sensitive biologic assay using the recombinant vaccinia expression system. From the induced syncytium pattern of somatic hybrid cell lines with different deletions involving chromosome 17, <a href="#51" class="mim-tip-reference" title="Tajima, Y., Tashiro, K., Camerini, D. <strong>Assignment of the possible HTLV receptor gene to chromosome 17q21-q23.</strong> Somat. Cell Molec. Genet. 23: 225-227, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9330634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9330634</a>] [<a href="https://doi.org/10.1007/BF02721374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9330634">Tajima et al. (1997)</a> concluded that the HTLVR gene resides on 17q21-q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9330634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Familial hairy cell leukemia occurs rarely, and HCL occurring in association with other hematologic malignancies is even rarer. <a href="#25" class="mim-tip-reference" title="Makower, D., Marino, P., Frank, M., Wiernik, P. H. <strong>Familial hairy cell leukemia.</strong> Leukemia Lymphoma 29: 193-197, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9638989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9638989</a>] [<a href="https://doi.org/10.3109/10428199809058395" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9638989">Makower et al. (1998)</a> described a mother and son with HCL, and an HCL patient whose aunt developed Hodgkin disease (<a href="/entry/236000">236000</a>). This was said to be the first reported familial association of HCL with Hodgkin disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9638989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=138140[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In a patient originally reported by <a href="#9" class="mim-tip-reference" title="De Vivo, D. C., Trifiletti, R. R., Jacobson, R. I., Ronen, G. M., Behmand, R. A., Harik, S. I. <strong>Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.</strong> New Eng. J. Med. 325: 703-709, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1714544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1714544</a>] [<a href="https://doi.org/10.1056/NEJM199109053251006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1714544">De Vivo et al. (1991)</a> with severe manifestations related to a demonstrable defect in glucose transport across the blood-brain barrier (GLUT1DS1; <a href="/entry/606777">606777</a>), <a href="#43" class="mim-tip-reference" title="Seidner, G., Alvarez, M. G., Yeh, J.-I., O'Driscoll, K. R., Klepper, J., Stump, T. S., Wang, D., Spinner, N. B., Birnbaum, M. J., De Vivo, D. C. <strong>GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.</strong> Nature Genet. 18: 188-191, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9462754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9462754</a>] [<a href="https://doi.org/10.1038/ng0298-188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9462754">Seidner et al. (1998)</a> identified a heterozygous deletion of the GLUT1 gene. The deletion appeared to be a de novo mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1714544+9462754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#52" class="mim-tip-reference" title="Wang, D., Kranz-Eble, P., De Vivo, D. C. <strong>Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.</strong> Hum. Mutat. 16: 224-231, 2000. Note: Erratum: Hum. Mutat. 16: 527 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980529</a>] [<a href="https://doi.org/10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980529">Wang et al. (2000)</a> identified 1 patient who was hemizygous for the GLUT1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80359829 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80359829;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80359829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80359829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with severe clinical consequences of a defect in the transport of glucose across the blood-brain barrier (GLUT1DS1; <a href="/entry/606777">606777</a>), <a href="#43" class="mim-tip-reference" title="Seidner, G., Alvarez, M. G., Yeh, J.-I., O'Driscoll, K. R., Klepper, J., Stump, T. S., Wang, D., Spinner, N. B., Birnbaum, M. J., De Vivo, D. C. <strong>GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.</strong> Nature Genet. 18: 188-191, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9462754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9462754</a>] [<a href="https://doi.org/10.1038/ng0298-188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9462754">Seidner et al. (1998)</a> identified a heterozygous 1545A-T transversion in the SLC2A1 gene, resulting in a lys456-to-ter (K456X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9462754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 GLUT1 DEFICIENCY SYNDROME 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80359828 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80359828;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80359828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80359828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017487" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017487" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017487</a>
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<p>In a patient originally reported by <a href="#9" class="mim-tip-reference" title="De Vivo, D. C., Trifiletti, R. R., Jacobson, R. I., Ronen, G. M., Behmand, R. A., Harik, S. I. <strong>Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.</strong> New Eng. J. Med. 325: 703-709, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1714544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1714544</a>] [<a href="https://doi.org/10.1056/NEJM199109053251006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1714544">De Vivo et al. (1991)</a> with severe clinical consequences of a defect in the transport of glucose across the blood-brain barrier (GLUT1DS1; <a href="/entry/606777">606777</a>), <a href="#43" class="mim-tip-reference" title="Seidner, G., Alvarez, M. G., Yeh, J.-I., O'Driscoll, K. R., Klepper, J., Stump, T. S., Wang, D., Spinner, N. B., Birnbaum, M. J., De Vivo, D. C. <strong>GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier.</strong> Nature Genet. 18: 188-191, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9462754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9462754</a>] [<a href="https://doi.org/10.1038/ng0298-188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9462754">Seidner et al. (1998)</a> identified a heterozygous 1526C-A transversion in the SLC2A1 gene, resulting in a tyr449-to-ter (Y449X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1714544+9462754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80359822 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80359822;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80359822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80359822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017488 OR RCV000189388 OR RCV002271986 OR RCV003445072 OR RCV003445073 OR RCV003445074 OR RCV003445075" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017488, RCV000189388, RCV002271986, RCV003445072, RCV003445073, RCV003445074, RCV003445075" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017488...</a>
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<p>In a patient with blood-brain barrier glucose transport defect (see <a href="/entry/606777">606777</a>), <a href="#52" class="mim-tip-reference" title="Wang, D., Kranz-Eble, P., De Vivo, D. C. <strong>Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.</strong> Hum. Mutat. 16: 224-231, 2000. Note: Erratum: Hum. Mutat. 16: 527 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980529</a>] [<a href="https://doi.org/10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980529">Wang et al. (2000)</a> identified compound heterozygosity for 2 mutations in the SLC2A1 gene: a 945A-G transition in exon 5, resulting in a lys256-to-val (K256V) substitution on the maternally derived allele, and a 556G-T transversion in exon 4, resulting in an arg126-to-leu (R126L; <a href="#0005">138140.0005</a>) substitution on the paternally derived allele. In addition to having no noticeable symptoms of GLUT1 deficiency syndrome, the mother had no defect in erythrocyte glucose uptake in vitro. <a href="#52" class="mim-tip-reference" title="Wang, D., Kranz-Eble, P., De Vivo, D. C. <strong>Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.</strong> Hum. Mutat. 16: 224-231, 2000. Note: Erratum: Hum. Mutat. 16: 527 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980529</a>] [<a href="https://doi.org/10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980529">Wang et al. (2000)</a> raised the possibility of a synergistic effect of these 2 mutations when present in compound heterozygous state. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#39" class="mim-tip-reference" title="Rotstein, M., Engelstad, K., Yang, H., Wang, D., Levy, B., Chung, W. K., De Vivo, D. C. <strong>Glut1 deficiency: inheritance pattern determined by haploinsufficiency.</strong> Ann. Neurol. 68: 955-958, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20687207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20687207</a>] [<a href="https://doi.org/10.1002/ana.22088" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20687207">Rotstein et al. (2010)</a> provided further details of the patient with autosomal recessive GLUT1 deficiency syndrome reported by <a href="#52" class="mim-tip-reference" title="Wang, D., Kranz-Eble, P., De Vivo, D. C. <strong>Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.</strong> Hum. Mutat. 16: 224-231, 2000. Note: Erratum: Hum. Mutat. 16: 527 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980529</a>] [<a href="https://doi.org/10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980529">Wang et al. (2000)</a>. He developed recurrent limb stiffening and cyanosis at age 6 weeks. Seizures included tonic eye deviation, staring spells, myoclonic jerks, and prolonged and refractory generalized tonic-clonic seizures. He had delayed psychomotor development and progressive microcephaly. CSF showed hypoglycorrhachia. A ketogenic diet was helpful, but his developmental quotient was 42 at age 6 years. He had axial hypotonia, limb spasticity and dystonia, and severe ataxia. The patient's glucose uptake in red blood cells was 36% of controls. Studies in Xenopus oocytes showed 3.2% residual activity with the R126L-mutant protein and 12.7% residual activity with the K256V-mutant protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20687207+10980529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80359816 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80359816;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80359816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80359816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017489 OR RCV002271987" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017489, RCV002271987" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017489...</a>
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<p>For discussion of the arg126-to-leu (R126L) mutation in the SLC2A1 gene that was found in compound heterozygous state in a patient with blood-brain barrier glucose transport defect (see <a href="/entry/606777">606777</a>) by <a href="#52" class="mim-tip-reference" title="Wang, D., Kranz-Eble, P., De Vivo, D. C. <strong>Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.</strong> Hum. Mutat. 16: 224-231, 2000. Note: Erratum: Hum. Mutat. 16: 527 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10980529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10980529</a>] [<a href="https://doi.org/10.1002/1098-1004(200009)16:3<224::AID-HUMU5>3.0.CO;2-P" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10980529">Wang et al. (2000)</a>, see <a href="#0004">138140.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10980529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 GLUT1 DEFICIENCY SYNDROME 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80359814 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80359814;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80359814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80359814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017490" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017490" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017490</a>
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<p><a href="#20" class="mim-tip-reference" title="Klepper, J., Willemsen, M., Verrips, A., Guertsen, E., Herrmann, R., Kutzick, C., Florcken, A., Voit, T. <strong>Autosomal dominant transmission of GLUT1 deficiency.</strong> Hum. Molec. Genet. 10: 63-68, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11136715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11136715</a>] [<a href="https://doi.org/10.1093/hmg/10.1.63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11136715">Klepper et al. (2001)</a> reported a father and 2 children from separate marriages affected by GLUT1 deficiency (GLUT1DS1; <a href="/entry/606777">606777</a>) who were heterozygous for a gly91-to-asp (G91D) substitution in the GLUT1 gene. The father developed generalized tonic-clonic seizures and myoclonic seizures at age 3 years. As an adult, he had mild mental retardation, depression, and migraine. One daughter had mild spastic diplegia at age 9 months and showed developmental delay over the next 2 years. At age 3, she developed complex partial seizures. At age 10 years, she had moderate mental retardation, cerebellar ataxia, and mild pyramidal signs of the legs. The second daughter showed developmental delay, spastic diplegia, and generalized tonic-clonic seizures at age 2. Physical exam at age 22 years revealed moderate mental retardation, cerebellar ataxia, and spastic tetraplegia that predominantly involved the legs. The 2 daughters both had hypoglycorrhachia. The G91D amino acid change was predicted to affect an arg-X-gly-arg-arg motif between helices 2 and 3 that represents a highly conserved cytoplasmic anchor point. The uptake of 3-O-methyl-D-glucose into erythrocytes was significantly reduced, suggesting a quantitatively normal, but functionally impaired, GLUT1 protein at the cell membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11136715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Klepper, J., Monden, I., Guertsen, E., Voit, T., Willemsen, M., Keller, K. <strong>Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene.</strong> FEBS Lett. 498: 104-109, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11389907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11389907</a>] [<a href="https://doi.org/10.1016/s0014-5793(01)02463-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11389907">Klepper et al. (2001)</a> demonstrated that expression of mutant G91D or G91A in Xenopus oocytes resulted in significantly decreased glucose transport (by about 40%) compared to wildtype. The mutant proteins were present at the plasma membrane at levels comparable to wildtype. <a href="#18" class="mim-tip-reference" title="Klepper, J., Monden, I., Guertsen, E., Voit, T., Willemsen, M., Keller, K. <strong>Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene.</strong> FEBS Lett. 498: 104-109, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11389907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11389907</a>] [<a href="https://doi.org/10.1016/s0014-5793(01)02463-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11389907">Klepper et al. (2001)</a> concluded that the loss of glycine at this position, rather than the introduction of aspartic acid, was responsible for the functional consequences observed in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11389907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 GLUT1 DEFICIENCY SYNDROME 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80359816 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80359816;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80359816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80359816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017491 OR RCV000081432 OR RCV001387741 OR RCV002288508" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017491, RCV000081432, RCV001387741, RCV002288508" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017491...</a>
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<p>In affected members of a family with GLUT1 deficiency (GLUT1DS1; <a href="/entry/606777">606777</a>), <a href="#7" class="mim-tip-reference" title="Brockmann, K., Wang, D., Korenke, C. G., von Moers, A., Ho, Y.-Y., Pascual, J. M., Kuang, K., Yang, H., Ma, L., Kranz-Eble, P., Fischbarg, J., Hanefeld, F., De Vivo, D. C. <strong>Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy.</strong> Ann. Neurol. 50: 476-485, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11603379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11603379</a>] [<a href="https://doi.org/10.1002/ana.1222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11603379">Brockmann et al. (2001)</a> identified a heterozygous arg126-to-his (R126H) missense mutation in the SLC2A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11603379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 GLUT1 DEFICIENCY SYNDROME 2</strong>
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SLC2A1, 12-BP DEL, NT1022
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2124448824 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2124448824;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2124448824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2124448824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017492 OR RCV002284173 OR RCV002513077 OR RCV003445076" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017492, RCV002284173, RCV002513077, RCV003445076" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017492...</a>
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<p>In 4 affected members of a family with paroxysmal exertion-induced dyskinesia and hemolytic anemia (GLUT1DS2; <a href="/entry/612126">612126</a>), <a href="#56" class="mim-tip-reference" title="Weber, Y. G., Storch, A., Wuttke, T. V., Brockmann, K., Kempfle, J., Maljevic, S., Margari, L., Kamm, C., Schneider, S. A., Huber, S. M., Pekrun, A., Roebling, R., and 17 others. <strong>GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.</strong> J. Clin. Invest. 118: 2157-2168, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18451999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18451999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18451999[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI34438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18451999">Weber et al. (2008)</a> identified a heterozygous 12-bp deletion (1022_1033del) in exon 6 of the SLC2A1 gene, resulting in a loss of 4 amino acids within the seventh transmembrane segment, which contains a highly conserved portion of the pore-forming region. The mutation was not detected in 150 controls. Clinical features included childhood onset of episodic involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements. In addition, all affected family members had a history of macrocytic hemolytic anemia with reticulocytosis. Two patients had seizures and 1 had decreased cognitive function with an IQ of 77. In vitro functional expression studies in Xenopus oocytes and human erythrocytes showed that the mutation decreased glucose transport and caused a cation leak that altered intracellular concentrations of sodium, potassium, and calcium. Based on these findings and brain imaging studies, <a href="#56" class="mim-tip-reference" title="Weber, Y. G., Storch, A., Wuttke, T. V., Brockmann, K., Kempfle, J., Maljevic, S., Margari, L., Kamm, C., Schneider, S. A., Huber, S. M., Pekrun, A., Roebling, R., and 17 others. <strong>GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.</strong> J. Clin. Invest. 118: 2157-2168, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18451999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18451999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18451999[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI34438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18451999">Weber et al. (2008)</a> concluded that the dyskinesias resulted from an exertion-induced energy deficit causing episodic dysfunction in the basal ganglia. The hemolysis resulted from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18451999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 GLUT1 DEFICIENCY SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909739 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909739;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121909739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017493 OR RCV000153967 OR RCV000473987 OR RCV001253635 OR RCV002288509" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017493, RCV000153967, RCV000473987, RCV001253635, RCV002288509" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017493...</a>
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<p>In 5 affected members of a family with GLUT1 deficiency syndrome-2 (GLUT1DS2; <a href="/entry/612126">612126</a>), <a href="#56" class="mim-tip-reference" title="Weber, Y. G., Storch, A., Wuttke, T. V., Brockmann, K., Kempfle, J., Maljevic, S., Margari, L., Kamm, C., Schneider, S. A., Huber, S. M., Pekrun, A., Roebling, R., and 17 others. <strong>GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.</strong> J. Clin. Invest. 118: 2157-2168, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18451999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18451999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18451999[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI34438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18451999">Weber et al. (2008)</a> identified a heterozygous 1119G-A transition in the SLC2A1 gene, resulting in a gly314-to-ser (G314S) substitution in the eighth transmembrane segment. The phenotype was characterized by childhood-onset paroxysmal exertion-induced dyskinesia with epilepsy with absences or complex partial seizures, mild learning disabilities, and an irritable behavior with increased impulsivity in 6 affected members. Hematologic abnormalities were not observed. The mutation was also identified in 2 unaffected family members, indicating decreased penetrance. The mutation was not identified in 150 controls. In vitro functional expression studies showed that the mutation decreased glucose transport but did not affect cation permeability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18451999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0010 GLUT1 DEFICIENCY SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121909740 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909740;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121909740?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121909740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017494 OR RCV000147534 OR RCV000189361 OR RCV001851890" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017494, RCV000147534, RCV000189361, RCV001851890" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017494...</a>
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<p>In 5 affected members of a family with GLUT1 deficiency syndrome-2 (GLUT1DS2; <a href="/entry/612126">612126</a>), <a href="#56" class="mim-tip-reference" title="Weber, Y. G., Storch, A., Wuttke, T. V., Brockmann, K., Kempfle, J., Maljevic, S., Margari, L., Kamm, C., Schneider, S. A., Huber, S. M., Pekrun, A., Roebling, R., and 17 others. <strong>GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.</strong> J. Clin. Invest. 118: 2157-2168, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18451999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18451999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18451999[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI34438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18451999">Weber et al. (2008)</a> identified a heterozygous 1002G-A transition in the SLC2A1 gene, resulting in an ala275-to-thr (A275T) substitution at the cytoplasmic end of transmembrane segment 7. The mutation was not identified in 150 controls. In vitro functional expression studies showed that the mutation decreased glucose transport but did not affect cation permeability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18451999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs80359812 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80359812;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80359812" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80359812" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030921" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030921" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030921</a>
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<p>In a 6-year-old boy with GLUT1 deficiency syndrome-2 (GLUT1DS2; <a href="/entry/612126">612126</a>), <a href="#31" class="mim-tip-reference" title="Overweg-Plandsoen, W. C. G., Groener, J. E. M., Wang, D., Onkenhout, W., Brouwer, O. F., Bakker, H. D., De Vivo, D. C. <strong>GLUT-1 deficiency without epilepsy--an exceptional case.</strong> J. Inherit. Metab. Dis. 26: 559-563, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14605501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14605501</a>] [<a href="https://doi.org/10.1023/a:1025999914822" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14605501">Overweg-Plandsoen et al. (2003)</a> identified a de novo heterozygous 280A-T transversion in exon 2 of the GLUT1 gene, resulting in an asn34-to-ile (N34I) substitution in the largest extracellular loop connecting transmembrane domains 1 and 2. He had an atypical phenotype in that he never had seizures. Clinical features included delayed psychomotor development, moderate mental retardation, dysarthria, limb ataxia, hyperreflexia, and dystonic posturing of the arms. The motor activity and coordination fluctuated throughout the day, which was unrelated to food intake. A ketogenic diet helped with the motor symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14605501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 GLUT1 DEFICIENCY SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607060 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607060;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017496" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017496" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017496</a>
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<p>In affected members of a large Belgian family segregating paroxysmal exercise-induced dyskinesia with or without epilepsy (GLUT1DS2; <a href="/entry/612126">612126</a>), <a href="#49" class="mim-tip-reference" title="Suls, A., Dedeken, P., Goffin, K., Van Esch, H., Dupont, P., Cassiman, D., Kempfle, J., Wuttke, T. V., Weber, Y., Lerche, H., Afawi, Z., Vandenberghe, W., and 15 others. <strong>Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.</strong> Brain 131: 1831-1844, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18577546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18577546</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18577546[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awn113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18577546">Suls et al. (2008)</a> identified a heterozygous ser95-to-ile (S95I) mutation in exon 4 of the SLC2A1 gene. The mutation resulted from a T-A transversion and a C-T transition at nucleotides 283 and 284, respectively. The mutation occurred in the cytosolic loop connecting transmembrane segments 2 and 3, and was not found in 184 ethnically matched controls. In vitro functional expression studies in Xenopus oocytes showed that the S95I mutant protein caused reduced glucose uptake with a decrease of maximal transport velocity compared to wildtype. Cation permeability was not affected, and none of the patients had hemolytic anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18577546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 GLUT1 DEFICIENCY SYNDROME 2</strong>
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SLC2A1, ARG93TRP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs267607061 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607061;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs267607061?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030922 OR RCV000442654 OR RCV000648074 OR RCV001291641 OR RCV001548750 OR RCV004549375" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030922, RCV000442654, RCV000648074, RCV001291641, RCV001548750, RCV004549375" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030922...</a>
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<p>In a 13-year-old boy with GLUT1 deficiency syndrome-2 (GLUT1DS2; <a href="/entry/612126">612126</a>), <a href="#17" class="mim-tip-reference" title="Joshi, C., Greenberg, C. R., De Vivo, D., Wang, D., Chan-Lui, W., Booth, F. A. <strong>GLUT1 deficiency without epilepsy: yet another case.</strong> J. Child Neurol. 23: 832-834, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18403583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18403583</a>] [<a href="https://doi.org/10.1177/0883073808314896" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18403583">Joshi et al. (2008)</a> identified a heterozygous mutation in the SLC2A1 gene, resulting in an arg93-to-trp (R93W) substitution. The patient had an atypical phenotype, with delayed psychomotor development, early-onset ataxia, and hyperreflexia. He first developed a seizure disorder at age 11 years, with staring spells, head jerking, eye rolling, and loss of tone, which progressed to absence, myoclonic, and atonic seizures. His cognitive and motor skills deteriorated during this period. EEG showed moderate background slowing. Laboratory studies showed decreased CSF glucose and lactate, consistent with GLUT1 deficiency syndrome. A ketogenic diet resulted in complete seizure control with motor and cognitive improvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18403583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Rotstein, M., Doran, J., Yang, H., Ullner, P. M., Engelstad, K., De Vivo, D. C. <strong>GLUT1 deficiency and alternating hemiplegia of childhood.</strong> Neurology 73: 2042-2044, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19996082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19996082</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181c55ebf" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19996082">Rotstein et al. (2009)</a> identified a de novo heterozygous R93W mutation in a 10-year-old boy with GLUT1 deficiency. At age 2 years, he had onset of episodic ataxia and slurred speech associated with unilateral muscle weakness. Laboratory studies showed significantly decreased CSF glucose levels. He showed gradual cognitive decline, progressive microcephaly, and ataxia during childhood. <a href="#38" class="mim-tip-reference" title="Rotstein, M., Doran, J., Yang, H., Ullner, P. M., Engelstad, K., De Vivo, D. C. <strong>GLUT1 deficiency and alternating hemiplegia of childhood.</strong> Neurology 73: 2042-2044, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19996082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19996082</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181c55ebf" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19996082">Rotstein et al. (2009)</a> noted that the phenotype in this patient was reminiscent of alternating hemiplegia of childhood (<a href="/entry/104290">104290</a>). Studies of patient erythrocytes showed about a 50% decrease in glucose uptake compared to controls. The R93W substitution occurs in the first cytosolic loop of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19996082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 GLUT1 DEFICIENCY SYNDROME 1</strong>
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GLUT1 DEFICIENCY SYNDROME 2, INCLUDED<br />
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DYSTONIA 9, INCLUDED
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs80359818 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80359818;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs80359818?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs80359818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs80359818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017498 OR RCV000030838 OR RCV000030839 OR RCV000081431 OR RCV000546969 OR RCV000824987 OR RCV004737154 OR RCV004791223" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017498, RCV000030838, RCV000030839, RCV000081431, RCV000546969, RCV000824987, RCV004737154, RCV004791223" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017498...</a>
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<p>In a 22-year-old Italian woman with GLUT1 deficiency syndrome-1 (GLUT1DS1; <a href="/entry/606777">606777</a>), <a href="#60" class="mim-tip-reference" title="Zorzi, G., Castellotti, B., Zibordi, F., Gellera, C., Nardocci, N. <strong>Paroxysmal movement disorders in GLUT1 deficiency syndrome.</strong> Neurology 71: 146-148, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18606970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18606970</a>] [<a href="https://doi.org/10.1212/01.wnl.0000316804.10020.ba" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18606970">Zorzi et al. (2008)</a> identified a heterozygous de novo mutation in the SLC2A1 gene, resulting in an arg126-to-cys (R126C) substitution. She had delayed psychomotor development, mild mental retardation, microcephaly, dysarthria, and spasticity. She had onset of complex partial seizures at age 4 months. At age 10, she developed paroxysmal exercise-induced leg dystonia. CSF glucose was reduced at 31 mg/dl. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18606970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Suls, A., Mullen, S. A., Weber, Y. G., Verhaert, K., Ceulemans, B., Guerrini, R., Wuttke, T. V., Salvo-Vargas, A., Deprez, L., Claes, L. R. F., Jordanova, A., Berkovic, S. F., Lerche, H., De Jonghe, P., Scheffer, I. E. <strong>Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.</strong> Ann. Neurol. 66: 415-419, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19798636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19798636</a>] [<a href="https://doi.org/10.1002/ana.21724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19798636">Suls et al. (2009)</a> identified a de novo heterozygous R126C mutation, resulting from a 376C-T transition in exon 4 of the GLUT1 gene, in a 12-year-old girl who developed absence seizures and myoclonus at age 14 months. She had mild gait ataxia, subtle paroxysmal exercise-induced dyskinesia, and moderate mental retardation, consistent with GLUT1DS2 (<a href="/entry/612126">612126</a>). The mutation occurred in a highly conserved region of transmembrane domain 4, and was not found in 276 control chromosomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in decreased glucose transport without affecting glucose binding. Mutations in the same codon (R126L; <a href="#0005">138140.0005</a> and R126H; <a href="#0007">138140.0007</a>) have been found in other patients with GLUT1DS1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19798636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#55" class="mim-tip-reference" title="Weber, Y. G., Kamm, C., Suls, A., Kempfle, J., Kotschet, K., Schule, R., Wuttke, T. V., Maljevic, S., Liebrich, J., Gasser, T., Ludolph, A. C., Van Paesschen, W., Schols, L., De Jonghe, P., Auburger, G., Lerche, H. <strong>Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.</strong> Neurology 77: 959-964, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21832227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21832227</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31822e0479" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21832227">Weber et al. (2011)</a> identified a heterozygous R126C mutation in Australian twin brothers with dystonia-9 (DYT9; <a href="/entry/601042">601042</a>) and mental retardation. Both had onset in early childhood of paroxysmal choreoathetosis and progressive spastic paraparesis; ataxia was not observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21832227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs202060209 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs202060209;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs202060209?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs202060209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs202060209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017499 OR RCV000426262 OR RCV000705009 OR RCV000850197 OR RCV001843456 OR RCV002243647 OR RCV003445077" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017499, RCV000426262, RCV000705009, RCV000850197, RCV001843456, RCV002243647, RCV003445077" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017499...</a>
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<p>In a 25-year-old Caucasian English woman with GLUT1 deficiency syndrome-2 (GLUT1DS2; <a href="/entry/612126">612126</a>), <a href="#42" class="mim-tip-reference" title="Schneider, S. A., Paisan-Ruiz, C., Garcia-Gorostiaga, I., Quinn, N. P., Weber, Y. G., Lerche, H., Hardy, J., Bhatia, K. P. <strong>GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.</strong> Mov. Disord. 24: 1684-1696, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19630075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19630075</a>] [<a href="https://doi.org/10.1002/mds.22507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19630075">Schneider et al. (2009)</a> identified a de novo heterozygous 274C-T transition in the SLC2A1 gene, resulting in an arg91-to-trp (R91W) substitution. The mutation was not found in 382 control chromosomes. The patient developed paroxysmal exercise-induced dyskinesias in early childhood. She also had absence seizures between ages 4 and 10 years, and developed migraine with visual aura at age 11. The migraines were occasionally associated with hemiplegia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19630075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607059 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607059;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017500 OR RCV001548577 OR RCV002271988 OR RCV004737155" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017500, RCV001548577, RCV002271988, RCV004737155" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017500...</a>
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<p>In a 6-year-old girl, born of consanguineous Arab parents from a Bedouin kindred from Qatar, with GLUT1 deficiency syndrome-1 (see <a href="/entry/606777">606777</a>), <a href="#19" class="mim-tip-reference" title="Klepper, J., Scheffer, H., Elsaid, M. F., Kamsteeg, E.-J., Leferink, M., Ben-Omran, T. <strong>Autosomal recessive inheritance of GLUT1 deficiency syndrome.</strong> Neuropediatrics 40: 207-210, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20221955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20221955</a>] [<a href="https://doi.org/10.1055/s-0030-1248264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20221955">Klepper et al. (2009)</a> identified a homozygous 1402C-T transition in exon 10 of the SLC2A1 gene, resulting in an arg468-to-trp (R468W) substitution. She was noted to have unsteady ataxic gait at age 18 months, as well as paroxysmal choreoathetosis. She also had developmental delay and hypotonia. EEG showed a polymorphic baseline alpha-theta activity with an isolated monomorphic sharp wave focus. Lumbar puncture showed hypoglycorrhachia and decreased CSF lactate. Her clinically asymptomatic 2-year-old sister was also homozygous for the mutation; she was found to have hypoglycorrhachia and decreased CSF lactate. The parents, who were unaffected, were heterozygous for the mutation. <a href="#19" class="mim-tip-reference" title="Klepper, J., Scheffer, H., Elsaid, M. F., Kamsteeg, E.-J., Leferink, M., Ben-Omran, T. <strong>Autosomal recessive inheritance of GLUT1 deficiency syndrome.</strong> Neuropediatrics 40: 207-210, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20221955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20221955</a>] [<a href="https://doi.org/10.1055/s-0030-1248264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20221955">Klepper et al. (2009)</a> concluded that the mutation was pathogenic, since the affected residue is highly conserved, is located in the C terminus which is essential for substrate recognition and transport, and was not found in 120 control alleles. <a href="#19" class="mim-tip-reference" title="Klepper, J., Scheffer, H., Elsaid, M. F., Kamsteeg, E.-J., Leferink, M., Ben-Omran, T. <strong>Autosomal recessive inheritance of GLUT1 deficiency syndrome.</strong> Neuropediatrics 40: 207-210, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20221955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20221955</a>] [<a href="https://doi.org/10.1055/s-0030-1248264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20221955">Klepper et al. (2009)</a> suggested that the unaffected sister who was homozygous for the mutation was too young for symptom onset. The findings suggested that GLUT1 deficiency can also be inherited in an autosomal recessive pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20221955" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2124448406 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2124448406;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2124448406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2124448406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000022575" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022575" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022575</a>
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<p>In a 7-year-old girl with GLUT1 deficiency syndrome-2 (GLUT1DS2; <a href="/entry/612126">612126</a>), <a href="#32" class="mim-tip-reference" title="Perez-Duenas, B., Prior, C., Ma, Q., Fernandez-Alvarez, E., Setoain, X., Artuch, R., Pascual, J. M. <strong>Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome.</strong> Arch. Neurol. 66: 1410-1414, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19901175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19901175</a>] [<a href="https://doi.org/10.1001/archneurol.2009.236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19901175">Perez-Duenas et al. (2009)</a> identified a heterozygous de novo 3-bp insertion (TAT) in the SLC2A1 gene, resulting in addition of a tyrosine at codon 292 in the extracellular boundary of the seventh transmembrane domain, predicted to impair blood-brain glucose flux. She already had delayed psychomotor development but presented at age 5 years with episodic flaccidity and loss of ambulation. The episodes continued and were accompanied by gait ataxia, dysarthria, dyskinesias, and choreic movements. Milder features included action tremor, upper limb dysmetria, and ataxia. Brain MRI showed moderately severe supratentorial cortico-subcortical atrophy, and EEG showed mild diffuse slowing. CSF glucose was decreased. Institution of a ketogenic diet resulted in clinical improvement of the movement disorder and increased brain growth, although cognitive skills did not improve. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19901175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907312 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907312;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387907312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030840 OR RCV000255028 OR RCV000814788 OR RCV003445090" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030840, RCV000255028, RCV000814788, RCV003445090" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030840...</a>
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<p>In affected members of a large German family with dystonia-9 (DYT9; <a href="/entry/601042">601042</a>), originally reported by <a href="#4" class="mim-tip-reference" title="Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H. W., Leube, B., Binkofski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O. W., Voit, T. <strong>A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.</strong> Genomics 31: 90-94, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808284</a>] [<a href="https://doi.org/10.1006/geno.1996.0013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8808284">Auburger et al. (1996)</a>, <a href="#55" class="mim-tip-reference" title="Weber, Y. G., Kamm, C., Suls, A., Kempfle, J., Kotschet, K., Schule, R., Wuttke, T. V., Maljevic, S., Liebrich, J., Gasser, T., Ludolph, A. C., Van Paesschen, W., Schols, L., De Jonghe, P., Auburger, G., Lerche, H. <strong>Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.</strong> Neurology 77: 959-964, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21832227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21832227</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31822e0479" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21832227">Weber et al. (2011)</a> identified a heterozygous 634C-T transition in the SLC2A1 gene, resulting in an arg212-to-cys (R212C) substitution in the third intracellular loop close to the sixth transmembrane segment. The mutation was not found in 400 control chromosomes. In vitro functional expression studies showed that the mutant protein had normal expression at the cell surface, but decreased glucose uptake compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8808284+21832227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907313 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907313;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387907313?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387907313" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030841 OR RCV000189356 OR RCV001063268 OR RCV003445091" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030841, RCV000189356, RCV001063268, RCV003445091" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030841...</a>
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<p>In 8 affected members of an Italian family with idiopathic generalized epilepsy-12 (EIG12; <a href="/entry/614847">614847</a>), <a href="#48" class="mim-tip-reference" title="Striano, P., Weber, Y. G., Toliat, M. R., Schubert, J., Leu, C., Chaimana, R., Baulac, S., Guerrero, R., LeGuern, E., Lehesjoki, A.-E., Polvi, A., Robbiano, A., Serratosa, J. M., Guerrini, R., Nurnberg, P., Sander, T., Zara, F., Lerche, H., Marini, C. <strong>GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.</strong> Neurology 78: 557-562, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22282645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22282645</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318247ff54" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22282645">Striano et al. (2012)</a> identified a heterozygous 694C-T transition in the SLC2A1 gene, resulting in an arg232-to-cys (R232C) substitution at a highly conserved residue in the third intracellular loop. The mutation was not found in 846 normal controls. The mutation was also found in 4 healthy adult family members, yielding a penetrance of 67%. In vitro functional studies showed that the mutant protein was expressed at the cell surface, but had mildly decreased glucose uptake (70%) compared to wildtype. The findings suggested that GLUT1 deficiency is a rare cause of typical EIG, and also expanded the phenotypic spectrum associated with mutations in the SLC2A1 gene. The age at seizure onset ranged from early childhood to 23 years. All had generalized seizures, mainly typical absence seizures, and EEG showed regular, symmetric discharges of 3 to 3.5 Hz spike wave complexes. Seizures typically remitted 2 to 5 years after onset, although 1 patient later developed juvenile myoclonic epilepsy. Most showed a favorable response to pharmacologic treatment. None of the patients had other neurologic manifestations, including movement disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22282645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514564 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514564;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397514564?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397514564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397514564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032904" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032904" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032904</a>
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<p>In a 28-year old woman with idiopathic generalized epilepsy-12 (EIG12; <a href="/entry/614847">614847</a>) manifest as childhood onset of absence seizures at age 3 and generalized seizures at age 7, <a href="#50" class="mim-tip-reference" title="Suls, A., Mullen, S. A., Weber, Y. G., Verhaert, K., Ceulemans, B., Guerrini, R., Wuttke, T. V., Salvo-Vargas, A., Deprez, L., Claes, L. R. F., Jordanova, A., Berkovic, S. F., Lerche, H., De Jonghe, P., Scheffer, I. E. <strong>Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.</strong> Ann. Neurol. 66: 415-419, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19798636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19798636</a>] [<a href="https://doi.org/10.1002/ana.21724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19798636">Suls et al. (2009)</a> identified a heterozygous 668G-C transversion in exon 5 of the SLC2A1 gene, resulting in an arg223-to-pro (R223P) substitution at a residue conserved only in mammals. Intelligence was normal and she was seizure-free with medication since age 7. In vitro functional expression studies showed that the mutant protein had significantly decreased glucose uptake in Xenopus oocytes compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19798636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Lee, E. E., Ma, J., Sacharidou, A., Mi, W., Salato, V. K., Nguyen, N., Jiang, Y., Pascual, J. M., North, P. E., Shaul, P. W., Mettlen, M., Wang, R. C. <strong>A protein kinase C phosphorylation motif in GLUT1 affects glucose transport and is mutated in GLUT1 deficiency syndrome.</strong> Molec. Cell 58: 845-853, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25982116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25982116</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25982116[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.molcel.2015.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25982116">Lee et al. (2015)</a> identified serine-226 (S226) in GLUT1 as a protein kinase C (PKC) phosphorylation site. In vitro kinase studies, mass spectrometry, and phosphospecific antibody studies showed that phosphorylation of S226 was required for enhanced cell surface localization of GLUT1 and for a rapid increase in glucose uptake under induced conditions in endothelial cells. Several naturally occurring GLUT1 mutations, including R223P, impaired the phosphorylation of S226, resulting in decreased responsiveness of surface relocalization of GLUT1 despite the presence of endogenous GLUT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25982116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0021 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs13306758 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs13306758;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs13306758?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs13306758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs13306758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000082868 OR RCV000423069 OR RCV000701550 OR RCV000762930 OR RCV003445507" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000082868, RCV000423069, RCV000701550, RCV000762930, RCV003445507" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000082868...</a>
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<p>In a 30-year-old man with idiopathic generalized epilepsy (EIG12; <a href="/entry/614847">614847</a>), <a href="#3" class="mim-tip-reference" title="Arsov, T., Mullen, S. A., Rogers, S., Phillips, A. M., Lawrence, K. M., Damiano, J. A., Goldberg-Stern, H., Afawi, Z., Kivity, S., Trager, C., Petrou, S., Berkovic, S. F., Scheffer, I. E. <strong>Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.</strong> Ann. Neurol. 72: 807-815, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23280796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23280796</a>] [<a href="https://doi.org/10.1002/ana.23702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23280796">Arsov et al. (2012)</a> identified a heterozygous c.1372C-T transition in exon 10 of the SLC2A1 gene, resulting in an arg458-to-trp (R458W) substitution at a highly conserved residue. In vitro functional expression studies in Xenopus oocytes showed that the R458W substitution caused a marked reduced in glucose transport. The patient had onset of childhood absence epilepsy at age 6 and developed paroyxsmal exertional dyskinesia in his teens. He also had arm dystonia. The patient's father, who also carried the mutation, had onset of childhood absence seizures at age 7, developed PED as an adult, and had disabling leg dyskinesia when walking. The father's unaffected 66-year-old sister also carried the mutation, indicating incomplete penetrance. The proband was identified from a cohort of 504 probands with IGE who underwent direct sequencing of the SLC2A1 gene. The mutation was not found in 470 controls and had not previously been reported in databases of normal human genetic variation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23280796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398123069 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398123069;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs398123069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs398123069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 adult brothers with idiopathic generalized epilepsy (EIG12; <a href="/entry/614847">614847</a>), <a href="#3" class="mim-tip-reference" title="Arsov, T., Mullen, S. A., Rogers, S., Phillips, A. M., Lawrence, K. M., Damiano, J. A., Goldberg-Stern, H., Afawi, Z., Kivity, S., Trager, C., Petrou, S., Berkovic, S. F., Scheffer, I. E. <strong>Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.</strong> Ann. Neurol. 72: 807-815, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23280796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23280796</a>] [<a href="https://doi.org/10.1002/ana.23702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23280796">Arsov et al. (2012)</a> identified a heterozygous c.1232A-G transition in exon 9 of the SLC2A1 gene, resulting in an asn411-to-ser (N411S) substitution at a highly conserved residue. In vitro functional expression studies in Xenopus oocytes showed that the N411S substitution caused a marked reduced in glucose transport. Both patients developed childhood absence epilepsy at age 6 years; 1 also had juvenile myoclonic epilepsy. The proband was identified from a cohort of 504 probands with IGE who underwent direct sequencing of the SLC2A1 gene. The mutation was not found in 470 controls and had not previously been reported in databases of normal human genetic variation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23280796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0023 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs864309514 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864309514;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs864309514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs864309514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000202596 OR RCV003221858" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000202596, RCV003221858" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000202596...</a>
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<p>In a patient (sdCHC-A) with stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; <a href="/entry/608885">608885</a>), originally reported by <a href="#12" class="mim-tip-reference" title="Fricke, B., Jarvis, H. G., Reid, C. D. L., Aguilar-Martinez, P., Robert, A., Quittet, P., Chetty, M., Pizzey, A., Cynober, T., Lande, W. F., Mentzer, W. C., von During, M., Winter, S., Delaunay, J., Stewart, G. W. <strong>Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.</strong> Brit. J. Haemat. 125: 796-803, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15180870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15180870</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.04965.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15180870">Fricke et al. (2004)</a> as patient D-II-2, <a href="#11" class="mim-tip-reference" title="Flatt, J. F., Guizouarn, H., Burton, N. M., Borgese, F., Tomlinson, R. J., Forsyth, R. J., Baldwin, S. A., Levinson, B. E., Quittet, P., Aguilar-Martinez, P., Delaunay, J., Stewart, G. W., Bruce, L. J. <strong>Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.</strong> Blood 118: 5267-5277, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21791420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21791420</a>] [<a href="https://doi.org/10.1182/blood-2010-12-326645" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21791420">Flatt et al. (2011)</a> identified a heterozygous G-to-A transition in the SLC2A1 gene, resulting in a gly286-to-asp (G286D) substitution at a highly conserved residue. The G286D mutation was not found in the unaffected parents, in 2 unaffected sibs, or in 35 controls, and <a href="#11" class="mim-tip-reference" title="Flatt, J. F., Guizouarn, H., Burton, N. M., Borgese, F., Tomlinson, R. J., Forsyth, R. J., Baldwin, S. A., Levinson, B. E., Quittet, P., Aguilar-Martinez, P., Delaunay, J., Stewart, G. W., Bruce, L. J. <strong>Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.</strong> Blood 118: 5267-5277, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21791420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21791420</a>] [<a href="https://doi.org/10.1182/blood-2010-12-326645" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21791420">Flatt et al. (2011)</a> postulated that it was a de novo mutation. Patient red cells had decreased levels of stomatin (STOM; <a href="/entry/133090">133090</a>) at the membrane, but normal levels of SLC2A1 and most other membrane proteins. Confocal imaging studies of developing erythrocytes suggested that the loss of stomatin occurred late during reticulocyte maturation and involved endocytosis. In vitro functional expression assays in Xenopus oocytes showed that the mutant protein did not transport glucose and leaked cations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21791420+15180870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0024 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs864309522 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864309522;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs864309522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs864309522" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient (sdCHC-B) with stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; <a href="/entry/608885">608885</a>), originally reported by <a href="#12" class="mim-tip-reference" title="Fricke, B., Jarvis, H. G., Reid, C. D. L., Aguilar-Martinez, P., Robert, A., Quittet, P., Chetty, M., Pizzey, A., Cynober, T., Lande, W. F., Mentzer, W. C., von During, M., Winter, S., Delaunay, J., Stewart, G. W. <strong>Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.</strong> Brit. J. Haemat. 125: 796-803, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15180870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15180870</a>] [<a href="https://doi.org/10.1111/j.1365-2141.2004.04965.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15180870">Fricke et al. (2004)</a> as patient E-II-1, <a href="#11" class="mim-tip-reference" title="Flatt, J. F., Guizouarn, H., Burton, N. M., Borgese, F., Tomlinson, R. J., Forsyth, R. J., Baldwin, S. A., Levinson, B. E., Quittet, P., Aguilar-Martinez, P., Delaunay, J., Stewart, G. W., Bruce, L. J. <strong>Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.</strong> Blood 118: 5267-5277, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21791420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21791420</a>] [<a href="https://doi.org/10.1182/blood-2010-12-326645" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21791420">Flatt et al. (2011)</a> identified a heterozygous in-frame 3-bp deletion (ATCdel), resulting in the deletion of either conserved residues ile435 or ile436 in the C-terminal membrane span TM12. The mutation was not found in 35 controls, but patient relatives were not available for genetic analysis; <a href="#11" class="mim-tip-reference" title="Flatt, J. F., Guizouarn, H., Burton, N. M., Borgese, F., Tomlinson, R. J., Forsyth, R. J., Baldwin, S. A., Levinson, B. E., Quittet, P., Aguilar-Martinez, P., Delaunay, J., Stewart, G. W., Bruce, L. J. <strong>Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.</strong> Blood 118: 5267-5277, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21791420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21791420</a>] [<a href="https://doi.org/10.1182/blood-2010-12-326645" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21791420">Flatt et al. (2011)</a> postulated that it was a de novo mutation. In vitro functional expression assays in Xenopus oocytes showed that the mutant protein did not transport glucose and leaked cations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21791420+15180870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a girl with SDCHCN, <a href="#6" class="mim-tip-reference" title="Bawazir, W. M., Gevers, E. F., Flatt, J. F., Ang, A. L., Jacobs, B., Oren, C., Grunewald, S., Dattani, M., Bruce, L. J., Stewart, G. W. <strong>An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.</strong> J. Clin. Endocr. Metab. 97: E987-E993, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22492876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22492876</a>] [<a href="https://doi.org/10.1210/jc.2012-1399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22492876">Bawazir et al. (2012)</a> identified a de novo heterozygous ile435del or ile436del mutation. Red cell cation content showed extremely leaky red cells. Western blot analysis showed that GLUT1 was expressed normally at the red cell membrane, whereas stomatin (STOM1; <a href="/entry/133090">133090</a>) levels were decreased. The authors suggested that the multisystem pathology in this disorder likely reflects a combination of glucose transport deficiency at the blood-brain barrier, resulting in neurologic deficits consistent with GLUT1 deficiency syndrome-1 (GLUT1DS1; <a href="/entry/606777">606777</a>), and red cell membrane cation defects, resulting in pseudohyperkalemia and red cell hemolysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22492876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Sarkar1988" class="mim-tip-reference" title="Sarkar, H. K., Thorens, B., Lodish, H. F., Kaback, H. R. <strong>Expression of the human erythrocyte glucose transporter in Escherichia coli.</strong> Proc. Nat. Acad. Sci. 85: 5463-5467, 1988.">Sarkar et al. (1988)</a>
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Agus, D. B., Gambhir, S. S., Pardridge, W. M., Spielholz, C., Baselga, J., Vera, J. C., Golde, D. W.
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<strong>Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters.</strong>
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J. Clin. Invest. 100: 2842-2848, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9389750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9389750</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9389750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI119832" target="_blank">Full Text</a>]
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Ardinger, R. H., Jr., Buetow, K. H., Weiss, M. J., Nemer, M., DeHaven, C. R., Murray, J. C.
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<strong>Multipoint linkage relationships of 6 loci on 1p (ALPL, GLUT, PGD, PGM1, PND, RH). (Abstract)</strong>
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Am. J. Hum. Genet. 41: A154 only, 1987.
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Arsov, T., Mullen, S. A., Rogers, S., Phillips, A. M., Lawrence, K. M., Damiano, J. A., Goldberg-Stern, H., Afawi, Z., Kivity, S., Trager, C., Petrou, S., Berkovic, S. F., Scheffer, I. E.
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<strong>Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.</strong>
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Ann. Neurol. 72: 807-815, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23280796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23280796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23280796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.23702" target="_blank">Full Text</a>]
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Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H. W., Leube, B., Binkofski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O. W., Voit, T.
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<strong>A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.</strong>
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Genomics 31: 90-94, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16497725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16497725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16497725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
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|
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[<a href="https://doi.org/10.1093/hmg/ddl032" target="_blank">Full Text</a>]
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|
</p>
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|
</div>
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</li>
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<li>
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<a id="55" class="mim-anchor"></a>
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|
<a id="Weber2011" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
Weber, Y. G., Kamm, C., Suls, A., Kempfle, J., Kotschet, K., Schule, R., Wuttke, T. V., Maljevic, S., Liebrich, J., Gasser, T., Ludolph, A. C., Van Paesschen, W., Schols, L., De Jonghe, P., Auburger, G., Lerche, H.
|
|
<strong>Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.</strong>
|
|
Neurology 77: 959-964, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21832227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21832227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21832227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e31822e0479" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="56" class="mim-anchor"></a>
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|
<a id="Weber2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weber, Y. G., Storch, A., Wuttke, T. V., Brockmann, K., Kempfle, J., Maljevic, S., Margari, L., Kamm, C., Schneider, S. A., Huber, S. M., Pekrun, A., Roebling, R., and 17 others.
|
|
<strong>GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.</strong>
|
|
J. Clin. Invest. 118: 2157-2168, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18451999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18451999</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18451999[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18451999" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI34438" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="57" class="mim-anchor"></a>
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<a id="Xiang1987" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Xiang, K., Cox, N. J., Karam, J. H., Bell, G. I.
|
|
<strong>Bgl II RFLP at the human erythrocyte/HepG2-type glucose transporter (GLUT) locus on chromosome 1.</strong>
|
|
Nucleic Acids Res. 15: 9101 only, 1987.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2891109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2891109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2891109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/15.21.9101" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="58" class="mim-anchor"></a>
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<a id="Yun2009" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Yun, J., Rago, C., Cheong, I., Pagliarini, R., Angenendt, P., Rajagopalan, H., Schmidt, K., Willson, J. K. V., Markowitz, S., Zhou, S., Diaz, L. A., Jr., Velculescu, V. E., Lengauer, C., Kinzler, K. W., Vogelstein, B., Papadopoulos, N.
|
|
<strong>Glucose deprivation contributes to the development of KRAS pathway mutations in tumor cells.</strong>
|
|
Science 325: 1555-1559, 2009.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19661383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19661383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19661383[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19661383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1126/science.1174229" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="59" class="mim-anchor"></a>
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<a id="Zheng2010" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Zheng, P.-P., Romme, E., van der Spek, P. J., Dirven, C. M. F., Willemsen, R., Kros, J. M.
|
|
<strong>Glut1/SLC2A1 is crucial for the development of the blood-brain barrier in vivo.</strong>
|
|
Ann. Neurol. 68: 835-844, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21194153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21194153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21194153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.22318" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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|
<a id="60" class="mim-anchor"></a>
|
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<a id="Zorzi2008" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Zorzi, G., Castellotti, B., Zibordi, F., Gellera, C., Nardocci, N.
|
|
<strong>Paroxysmal movement disorders in GLUT1 deficiency syndrome.</strong>
|
|
Neurology 71: 146-148, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18606970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18606970</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18606970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000316804.10020.ba" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
|
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Bao Lige - updated : 12/07/2018
|
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Matthew B. Gross - updated : 03/23/2017<br>Cassandra L. Kniffin - updated : 12/16/2015<br>Ada Hamosh - updated : 6/26/2014<br>Cassandra L. Kniffin - updated : 1/8/2014<br>Cassandra L. Kniffin - updated : 10/18/2012<br>Cassandra L. Kniffin - updated : 10/4/2012<br>Cassandra L. Kniffin - updated : 4/11/2011<br>Cassandra L. Kniffin - updated : 3/16/2011<br>Cassandra L. Kniffin - updated : 2/23/2011<br>Ada Hamosh - updated : 10/13/2009<br>Patricia A. Hartz - updated : 9/17/2009<br>Cassandra L. Kniffin - updated : 6/25/2008<br>Patricia A. Hartz - updated : 5/29/2008<br>Cassandra L. Kniffin - updated : 5/3/2005<br>Stylianos E. Antonarakis - updated : 9/2/2004<br>Cassandra L. Kniffin - updated : 8/16/2004<br>Natalie E. Krasikov - updated : 3/5/2004<br>Ada Hamosh - updated : 9/18/2003<br>Victor A. McKusick - updated : 1/30/2003<br>Cassandra L. Kniffin - reorganized : 3/22/2002<br>Victor A. McKusick - updated : 12/5/2001<br>George E. Tiller - updated : 3/16/2001<br>John A. Phillips, III - updated : 8/9/2000<br>Victor A. McKusick - updated : 9/15/1999<br>Victor A. McKusick - updated : 1/26/1998<br>Victor A. McKusick - updated : 1/15/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
|
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Victor A. McKusick : 8/28/1987
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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mgross : 12/13/2023
|
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
alopez : 09/30/2019<br>alopez : 12/07/2018<br>carol : 08/21/2017<br>carol : 03/25/2017<br>mgross : 03/23/2017<br>carol : 12/17/2015<br>ckniffin : 12/16/2015<br>mcolton : 8/5/2015<br>alopez : 6/26/2014<br>carol : 1/17/2014<br>ckniffin : 1/8/2014<br>carol : 10/22/2012<br>ckniffin : 10/18/2012<br>carol : 10/9/2012<br>ckniffin : 10/4/2012<br>carol : 10/3/2012<br>wwang : 4/14/2011<br>ckniffin : 4/11/2011<br>wwang : 4/1/2011<br>ckniffin : 3/16/2011<br>carol : 3/15/2011<br>wwang : 3/8/2011<br>ckniffin : 2/23/2011<br>wwang : 2/17/2011<br>ckniffin : 1/24/2011<br>terry : 1/12/2011<br>carol : 11/4/2010<br>carol : 7/1/2010<br>ckniffin : 6/30/2010<br>alopez : 10/23/2009<br>terry : 10/13/2009<br>mgross : 9/17/2009<br>terry : 1/14/2009<br>wwang : 11/25/2008<br>ckniffin : 11/17/2008<br>carol : 8/22/2008<br>ckniffin : 6/25/2008<br>mgross : 6/2/2008<br>mgross : 6/2/2008<br>terry : 5/29/2008<br>carol : 2/16/2006<br>carol : 5/31/2005<br>ckniffin : 5/3/2005<br>mgross : 9/2/2004<br>tkritzer : 8/18/2004<br>ckniffin : 8/16/2004<br>carol : 3/5/2004<br>alopez : 9/18/2003<br>alopez : 9/18/2003<br>alopez : 1/31/2003<br>terry : 1/30/2003<br>carol : 3/25/2002<br>carol : 3/25/2002<br>carol : 3/22/2002<br>ckniffin : 3/22/2002<br>carol : 3/8/2002<br>terry : 3/8/2002<br>alopez : 12/7/2001<br>terry : 12/5/2001<br>cwells : 5/11/2001<br>cwells : 3/20/2001<br>cwells : 3/16/2001<br>cwells : 3/14/2001<br>mcapotos : 10/6/2000<br>joanna : 10/6/2000<br>mgross : 8/9/2000<br>mgross : 8/9/2000<br>carol : 9/30/1999<br>carol : 9/29/1999<br>jlewis : 9/28/1999<br>terry : 9/15/1999<br>dkim : 7/21/1998<br>dholmes : 2/20/1998<br>mark : 1/26/1998<br>terry : 1/26/1998<br>mark : 1/19/1998<br>terry : 1/15/1998<br>alopez : 12/2/1997<br>mark : 2/23/1997<br>carol : 6/4/1992<br>carol : 6/3/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>root : 11/23/1988
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</span>
|
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 138140
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1
|
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|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
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</div>
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<div>
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<div >
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GLUCOSE TRANSPORTER 1; GLUT; GLUT1<br />
|
|
ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER<br />
|
|
HUMAN T-CELL LEUKEMIA VIRUS RECEPTOR; HTLVR<br />
|
|
HTLV-1 AND HTLV-2 RECEPTOR
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: SLC2A1</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
|
|
<span class="mim-text-font">
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|
<strong>SNOMEDCT:</strong> 715564000, 724072002;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
|
<em>
|
|
Cytogenetic location: 1p34.2
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 1:42,925,353-42,958,868 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
1p34.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Epilepsy, idiopathic generalized, susceptibility to, 12}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614847
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Dystonia 9
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</span>
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</td>
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<td>
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<span class="mim-font">
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601042
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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|
</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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GLUT1 deficiency syndrome 1, infantile onset, severe
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</span>
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</td>
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<td>
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<span class="mim-font">
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606777
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal dominant; Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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GLUT1 deficiency syndrome 2, childhood onset
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
612126
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Stomatin-deficient cryohydrocytosis with neurologic defects
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
608885
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The SLC2A1 gene encodes the major glucose transporter in brain, placenta, and erythrocytes (Baroni et al., 1992). SLC2A1 also transports dehydroascorbic acid (the oxidized form of vitamin C) (Agus et al., 1997) and functions as a receptor for human T-cell leukemia virus (HTLV) (Manel et al., 2003). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mueckler et al. (1985) isolated a cDNA corresponding to human GLUT1 from human HepG2 hepatoma cells. The deduced amino acid sequence indicates that this protein lacks a signal sequence and possesses 12 potential membrane-spanning domains. The amino terminus, carboxyl terminus, and a highly hydrophilic domain in the center of the protein ware all predicted to lie on the cytoplasmic face of the cell. </p><p>Wang et al. (2000) stated that the SLC2A1 gene encodes a 492-amino acid protein with 97 to 98% identity between human, rat, rabbit, and pig sequences. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wang et al. (2000) stated the SLC2A1 gene contains 10 exons and spans approximately 35 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Crystal Structure</em></strong></p><p>
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Deng et al. (2014) reported the crystal structure of human GLUT1 at 3.2-angstrom resolution. The full-length protein, which has a canonical major facilitator superfamily fold, is captured in an inward-open conformation. This structure allows accurate mapping and potential mechanistic interpretation of disease-associated mutations in GLUT1. Structure-based analysis of these mutations provides insight into the alternating access mechanism of GLUT1 and other members of the sugar porter subfamily. Structural comparison of the uniporter GLUT1 with its bacterial homolog XylE, a proton-coupled xylose symporter, allows examination of the transport mechanisms of both passive facilitators and active transporters. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wang et al. (2005) stated that the SLC2A1 gene maps to chromosome 1p34.2. </p><p>Shows et al. (1987) mapped the SLC2A1 gene to chromosome 1p35-p31.3 by in situ hybridization and by Southern blot analysis of somatic cell hybrids. They concluded that the most likely location of SLC2A1 is in 1p33. </p><p>Ardinger et al. (1987) found linkage between Rh and a DNA polymorphism for GLUT (theta = 0.21; lod = 3.54). Multipoint analysis indicated that the order of the loci is probably RH--3--ALPL--12--GLUT--23--PGM1, with the interlocus intervals as percent recombination in males (female rate about 2.8 times the male rate). Xiang et al. (1987) described a RFLP of the GLUT locus. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The high metabolic requirements of the mammalian central nervous system require specialized structures for the facilitated transport of nutrients across the blood-brain barrier. The facilitative glucose transporter GLUT1 is expressed on endothelial cells at the blood-brain barrier and is responsible for glucose entry into the brain (Agus et al., 1997). Stereo-specific high-capacity carriers, including those that recognize glucose, are key components of this barrier, which also protects the brain against noxious substances. </p><p>Agus et al. (1997) provided evidence that GLUT1 also transports dehydroascorbic acid (the oxidized form of vitamin C) into the brain. Vitamin C concentrations in the brain exceed those in blood by 10 fold. In both tissues, the vitamin is present primarily in the reduced form, ascorbic acid. Agus et al. (1997) showed that ascorbic acid is not able to cross the blood-brain barrier; in contrast, dehydroascorbic acid readily enters the brain and is retained in the brain tissue in the form of ascorbic acid. Transport of dehydroascorbic acid into the brain is inhibited by D-glucose, but not by L-glucose. Thus, transport of dehydroascorbic acid by GLUT1 is a mechanism by which the brain acquires vitamin C. The studies of Agus et al. (1997) pointed to the oxidation of ascorbic acid as a potentially important regulatory step in accumulation of the vitamin by the brain. These results have implications for increasing antioxidant potential in the central nervous system. </p><p>Lazar et al. (1999) studied the expression of 4 thyroid-specific genes (sodium-iodide symporter (NIS, or SLC5A5; 601843), thyroid peroxidase (TPO; 606765), thyroglobulin (TG; 188450), and thyroid-stimulating hormone receptor (TSHR; 603372)) as well as the gene encoding GLUT1 in 90 human thyroid tissues. mRNAs were extracted from 43 thyroid carcinomas (38 papillary and 5 follicular), 24 cold adenomas, 5 Graves thyroid tissues, 8 toxic adenomas, and 5 hyperplastic thyroid tissues; 5 normal thyroid tissues were used as reference. Expression of the GLUT1 gene was increased in 1 of 24 (4%) adenomas and in 8 of 43 (19%) thyroid carcinomas. 3 patients with normal GLUT1 expression had 131-I uptake in metastases, whereas the other 3 patients with increased GLUT1 gene expression had no detectable 131-I uptake. The authors concluded that an increased expression of GLUT1 in some malignant tumors may suggest a role for glucose-derivative tracers to detect in vivo thyroid cancer metastases by positron-emission tomography scanning. </p><p>Translational repression of GLUT1 in glioblastoma multiforme (GBM; 137800) is mediated by a specific RNA-binding protein that interacts with an AU-rich response element in the 3-prime UTR of the GLUT1 transcript. Hamilton et al. (1999) showed that HNRNPA2 (600124) and HNRNPL (603083) bound the 3-prime UTR of GLUT1 mRNA. Induction of brain ischemia in rats or hypoglycemic stress in 293 cells increased GLUT1 expression via mRNA stability. Polysomes isolated from ischemic rat brains or hypoglycemic 293 cells showed loss of HNRNPA2 and HNRNPL, suggesting that reduced levels of these RNA-binding proteins results in GLUT1 mRNA stability. </p><p>Manel et al. (2003) showed that the receptor-binding domains of the HTLV-1 and -2 envelope glycoproteins inhibited glucose transport by interacting with GLUT1, the ubiquitous vertebrate glucose transporter. Receptor binding and HTLV envelope-driven infection were selectively inhibited when glucose transport or GLUT1 expression were blocked by cytochalasin B or siRNAs, respectively. Furthermore, ectopic expression of GLUT1, but not the related transporter GLUT3 (138170), restored HTLV infection abrogated by either GLUT1 siRNAs or interfering HTLV envelope glycoproteins. Manel et al. (2003) concluded that GLUT1 is a receptor for HTLV and suggested that perturbations in glucose metabolism resulting from interactions of HTLV envelope glycoproteins with GLUT1 are likely to contribute to HTLV-associated disorders. </p><p>Roach and Plomann (2007) found that overexpression of PACSIN3 (606513) elevated glucose transport by increasing the content of GLUT1 in the plasma membrane, despite the total amount of cellular GLUT1 remaining unchanged. </p><p>Montel-Hagen et al. (2008) stated that, of all human cell lineages, erythrocytes express the highest level of GLUT1, with more than 200,000 molecules per cell. They showed that GLUT1 preferentially transported L-dehydroascorbic acid (DHA) rather than glucose in human erythrocytes. This switch from glucose to DHA was associated with induction of stomatin (EPB72; 133090), an integral erythrocyte membrane protein. Accordingly, in a patient with overhydrated hereditary stomatocytosis (185000), a disorder characterized by low stomatin levels, DHA transport was decreased by 50%, while glucose uptake was significantly increased. Montel-Hagen et al. (2008) found that erythrocyte-specific GLUT1 expression and DHA transport are specific traits of vitamin C-deficient mammalian species, encompassing only higher primates, guinea pigs, and fruit bats. Adult mouse erythrocytes expressed Glut4 rather than Glut1 and did not transport DHA. Montel-Hagen et al. (2008) concluded that induction of GLUT1 and stomatin during erythroid differentiation is a compensatory mechanism in mammals unable to synthesize vitamin C. </p><p>By studying the transcriptomes of paired colorectal cancer cell lines that differed only in the mutational status of their KRAS (190070) or BRAF (164757) genes, Yun et al. (2009) found that GLUT1 was 1 of 3 genes consistently upregulated in cells with KRAS or BRAF mutations. The mutant cells exhibited enhanced glucose uptake and glycolysis and survived in low-glucose conditions, phenotypes that all required GLUT1 expression. In contrast, when cells with wildtype KRAS alleles were subjected to a low-glucose environment, very few cells survived. Most surviving cells expressed high levels of GLUT1, and 4% of these survivors had acquired KRAS mutations not present in their parents. The glycolysis inhibitor 3-bromopyruvate preferentially suppressed the growth of cells with KRAS or BRAF mutations. Yun et al. (2009) concluded that, taken together, these data suggested that glucose deprivation can drive the acquisition of KRAS pathway mutations in human tumors. </p><p>Lee et al. (2015) identified serine-226 (S226) in GLUT1 as a protein kinase C (PKC) phosphorylation site. In vitro kinase studies, mass spectrometry, and phosphospecific antibody studies showed that phosphorylation of S226 was required for enhanced cell surface localization of GLUT1 and for a rapid increase in glucose uptake under induced conditions in endothelial cells. Several naturally occurring GLUT1 mutations (see, e.g., R223P, 138140.0020) impaired the phosphorylation of S226, resulting in decreased responsiveness of surface relocalization of GLUT1 despite the presence of endogenous GLUT1. </p><p><strong><em>Role in Diabetes</em></strong></p><p>
|
|
Insulin increases glucose uptake in responsive cells by inducing the rapid translocation of glucose transporters from an intracellular storage pool to the plasma membrane. Li et al. (1988) demonstrated a significantly increased frequency of the X1 allele (the 6.2 kb fragment recognized by the human glucose transporter cDNA) among 89 patients with noninsulin-dependent diabetes mellitus (NIDDM; 125853) from 3 different ethnic populations. They suggested that the observed association may reflect linkage of the X1 allele to a putative diabetogenic locus on chromosome 1; they hypothesized that the glucose transporter gene itself may be a major genetic determinant for noninsulin-dependent diabetes mellitus. Baroni et al. (1992) extended the data suggesting an association between polymorphic markers at the GLUT1 locus and NIDDM in the Italian population studied. </p><p>Shepherd and Kahn (1999) discussed in detail the role of glucose transporters in insulin action and the implications for insulin resistance and diabetes mellitus. In their Table 1, they presented 5 forms of GLUT (GLUT1-5) and gave the approximate K(m) for glucose and the tissue distribution and characteristics of each. They pointed out that GLUT4 (138190) is the main insulin-responsive glucose transporter, being located primarily in muscle cells and adipocytes. The role of GLUT4 in the mechanism of effectiveness of drug therapy for diabetes was reviewed. </p><p>Lohmueller et al. (2003) performed a metaanalysis of 301 published genetic association studies covering 25 different reported associations. For 8 of the associations, pooled analysis of follow-up studies yielded statistically significant replication of the first report, with modest estimated genetic effects. One of these 8 was the association between type II diabetes and an XbaI RFLP (6.2-kb allele) of the SLC2A1 gene, as first reported by Li et al. (1988). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p><strong><em>GLUT1 Deficiency Syndrome 1</em></strong></p><p>
|
|
In patients with a transport defect of glucose across the blood-brain barrier, consistent with GLUT1 deficiency syndrome-1 (GLUT1DS1; 606777), Seidner et al. (1998) identified heterozygous mutations in the SLC2A1 gene (138140.0001-138140.0003). Two of the patients had been reported by De Vivo et al. (1991). </p><p>Klepper et al. (2001) reported a father and 2 children from separate marriages who were affected by GLUT1 deficiency, and confirmed autosomal dominant transmission by identifying a heterozygous mutation in the GLUT1 gene (G91D; 138140.0006). The father developed generalized tonic-clonic seizures and myoclonic seizures at age 3 years. As an adult, he had mild mental retardation, depression, and migraine. One daughter had mild spastic diplegia at age 9 months and showed developmental delay over the next 2 years. At age 3, she developed complex partial seizures. At age 10, she had moderate mental retardation, cerebellar ataxia, and mild pyramidal signs of the legs. The second daughter showed developmental delay, spastic diplegia, and generalized tonic-clonic seizures at age 2 years. Physical exam at age 22 years revealed moderate mental retardation, cerebellar ataxia, and spastic tetraplegia that predominantly involved the legs. The 2 daughters both had hypoglycorrhachia. </p><p>Among 16 patients with GLUT1 deficiency, Wang et al. (2005) identified 16 different mutations in the SLC2A1 gene; 14 of the mutations were novel. </p><p><strong><em>Stomatin-Deficient Cryohydrocytosis with Neurologic Defects</em></strong></p><p>
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|
In 2 unrelated patients with stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; 608885), originally reported by Fricke et al. (2004), Flatt et al. (2011) identified 2 different heterozygous mutations in the SLC2A1 gene (138140.0023 and 138140.0024). In vitro functional expression assays in Xenopus oocytes showed that the mutant proteins did not transport glucose and leaked cations. </p><p>In an infant with SDCHCN, Bawazir et al. (2012) identified a de novo heterozygous mutation in the SLC2A1 gene (138140.0024); the same mutation was identified in 1 of the patients reported by Flatt et al. (2011). Western blot analysis showed that GLUT1 was expressed normally at the red cell membrane, whereas stomatin (STOM; 133090) levels were decreased. The authors suggested that the multisystem pathology in this disorder likely reflects a combination of glucose transport deficiency at the blood-brain barrier, resulting in neurologic deficits consistent with GLUT1 deficiency syndrome-1 (GLUT1DS1; 606777), and red cell membrane cation defects, resulting in pseudohyperkalemia and red cell hemolysis. </p><p><strong><em>GLUT1 Deficiency Syndrome 2</em></strong></p><p>
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|
Overweg-Plandsoen et al. (2003) reported a 6-year-old boy with GLUT1 deficiency who had delayed psychomotor development, moderate mental retardation, horizontal nystagmus, dysarthria, limb ataxia, hyperreflexia, and dystonic posturing of the limbs, consistent with GLUT1 deficiency syndrome-2 (GLUT1DS2; 612126). He had never had seizures. The motor activity and coordination fluctuated throughout the day, which was unrelated to food intake. Laboratory studies showed hypoglycorrhachia and low CSF lactate. Genetic analysis identified a de novo heterozygous mutation in the GLUT1 gene (N34I; 138140.0011). A ketogenic diet helped with the motor symptoms. </p><p>In affected members of 3 unrelated families with paroxysmal exercise-induced dyskinesias (PED) consistent with GLUT1DS2, Weber et al. (2008) identified 3 different heterozygous mutations in the SLC2A1 gene (138140.0008-138140.0010). The phenotype was characterized by childhood onset of paroxysmal exertion-induced dyskinesias. One family also had hematologic abnormalities consistent with hemolytic anemia. Based on these findings and brain imaging studies, Weber et al. (2008) concluded that the dyskinesias resulted from an exertion-induced energy deficit causing episodic dysfunction in the basal ganglia. The hemolysis observed in 1 family was demonstrated in vitro in Xenopus oocytes and human erythrocytes to result from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1. </p><p>In affected members of a large Belgian family segregating PED and epilepsy, Suls et al. (2008) identified a heterozygous missense mutation in the GLUT1 gene (S95I; 138140.0012). </p><p>Schneider et al. (2009) identified 2 different de novo heterozygous mutations in the GLUT1 gene (see, e.g., 138140.0015) in 2 of 10 unrelated Caucasian patients with paroxysmal exercise-induced dyskinesias. One of the patients had childhood onset of absence epilepsy. </p><p><strong><em>Susceptibility to Idiopathic Generalized Epilepsy 12</em></strong></p><p>
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|
Suls et al. (2009) identified heterozygous mutations (see, e.g., 138140.0020) in the SLC2A1 gene in 4 (12%) of 34 patients with early-onset absence epilepsy before age 4 years (EIG12; 614847). CSF glucose levels were not available from any of the patients. One of the patients had no additional abnormalities and normal development. However, clinical review of these patients after diagnosis showed that 3 had mild to moderate mental retardation, 2 had mild ataxia, and 1 had myoclonus and exercise-induced paroxysmal dyskinesia. None had microcephaly. Two patients inherited missense mutations from parents with later-onset absence epilepsy. The findings further expanded the phenotype associated with SLC2A1 mutations, and suggested that patients with onset of absence seizures before age 4 years in particular should be screened for mutations in this gene. </p><p>In 8 affected members of an Italian family with idiopathic generalized epilepsy-12 manifest mainly as childhood-onset absence seizures, Striano et al. (2012) identified a heterozygous mutation in the SLC2A1 gene (R232C; 138140.0019). The mutation was also found in 4 healthy adult family members, yielding a reduced penetrance of 67%. In vitro functional studies showed that the mutant protein was expressed at the cell surface but had mildly decreased glucose uptake (70%) compared to wildtype. The mutation was found in 1 of 95 families with EIG. These findings suggested that GLUT1 deficiency is a rare cause of typical EIG, and also expanded the phenotypic spectrum associated with mutations in the SLC2A1 gene. </p><p><strong><em>Dystonia 9</em></strong></p><p>
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|
In affected members of the family with autosomal dominant dystonia-9 (DYT9; 601042) originally reported by Auburger et al. (1996), Weber et al. (2011) identified a heterozygous mutation in the SLC2A1 gene (R232C; 138140.0018). Two Australian brothers with the disorder carried a different heterozygous mutation (R126C; 138140.0014). The disorder was characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most showed some degree of cognitive impairment. Other variable features included seizures, migraine headaches, and ataxia. </p><p><strong><em>Variant Function</em></strong></p><p>
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|
Using proteomics screening to investigate the effect of missense mutations in intrinsically disordered regions (IDRs) of proteins on protein-protein interactions, Meyer et al. (2018) identified 3 mutations in cytosolic tails of 3 different transmembrane proteins that create dileucine motifs and lead to increased binding of clathrin. The authors selected the P485L mutation in GLUT1, which had been identified in GLUT1 deficiency, to characterize functionally. Expression analysis in HEK cells showed that the P485L mutation caused mislocalization of GLUT1 from the plasma membrane to endocytic compartments. Proximity-dependent biotin identification revealed that the mutant protein colocalized with proteins involved in membrane trafficking, clathrin-mediated endocytosis, and post-Golgi trafficking, in particular with all subunits of adaptor proteins AP1 (see 607291), AP2 (see 601024), and AP3 (see 602416), which bind directly to both dileucine motifs and clathrin to mediate cellular transport. Pull-down assay demonstrated that mutant GLUT1 interacted with APs via its cytosolic tail, providing a molecular explanation for mistrafficking of clathrin by a glucose transporter. Further analysis revealed that the interaction between GLUT1 and AP2 also contributed to the internalization of GLUT1 from the plasma membrane, as the loss of AP2 rescued the mislocalization of mutated GLUT1 and increased glucose uptake by mutant GLUT1. In fibroblasts derived from a GLUT1-deficient patient harboring the P485L mutation reprogrammed into induced pluripotent stem cells, the mislocalization observed in HEK cells was recapitulated, validating the in vitro results. Moreover, knocking in the P485L mutation in mice resulted in the death of homozygous mutant pups immediately after birth, and histologic analysis in endothelial cells of the blood brain barrier from mutant mouse embryos found that the P485L mutation reduced GLUT1 levels in the plasma membrane in vivo. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In mouse preimplantation embryos, Moley et al. (1998) found that glucose uptake was significantly lowered in embryos from diabetic mice compared to control mice. Diabetic embryos had significantly decreased levels of Glut1 mRNA and protein levels, indicating a decrease in glucose utilization directly related to a decrease in glucose transport. Chi et al. (2000) found that decreased Glut1 expression and function resulted in a high rate of apoptosis at the murine blastocyst stage via a Bax (600040)-dependent apoptotic cascade. The findings suggested that maternal hyperglycemia induces a cell death signal by decreasing glucose transport. This results in a loss of key progenitor cells during the blastocyst stage, which may manifest as embryonic resorption or malformation. In transgenic mice generated using antisense Glut1, Heilig et al. (2003) found reduction of glucose uptake, by 50% in presumed heterozygotes and 95% in presumed homozygotes, as well as developmental malformations associated with maternal diabetes, including intrauterine growth retardation, anencephaly, microphthalmia, and caudal regression syndrome, an impaired development of the hind portion of the embryo. Macrosomia was not observed. The homozygous Glut1 mutant phenotype was lethal during gestation, and reduced embryonic Glut1 was associated with apoptosis. Heilig et al. (2003) suggested that GLUT1 deficiency causes a decrease in embryonic glucose uptake and apoptosis, which may be involved in diabetic embryopathy. </p><p>Wang et al. (2006) found that mice with targeted heterozygous disruption of the Glut1 gene developed spontaneous epileptiform discharges, impaired motor activity, incoordination, hypoglycorrhachia, decreased brain weight (microencephaly), decreased brain glucose uptake, and decreased expression of Glut1 in the brain (66% of controls). Homozygous mutant mice were embryonic lethal. Wang et al. (2006) suggested that Glut1 +/- mice mimics the classic human presentation of GLUT1 deficiency and can be used as an animal model to examine the pathophysiology of the disorder in vivo. </p><p>In zebrafish, Zheng et al. (2010) found that knockdown of Glut1 resulted in impaired development of cerebral endothelial cells, disruption of the junctional barrier of the blood-brain barrier, impaired cerebral circulation, and vasogenic brain edema. The authors concluded that Glut1 plays a role in the development of cerebral endothelial cells with properties of the blood-brain barrier. </p>
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</span>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The human T-cell leukemia (lymphoma) virus HTLV-1 was first isolated in the United States in cases of adult T-cell lymphoma and leukemia (Poiesz et al. (1980, 1981); Gallo et al., 1982). Subsequently it was found associated with T-cell leukemia in patients in Japan and the West Indies by detection of HTLV-specific antibodies in the serum. Sarin et al. (1983) found a Japanese family in which one member, a 21-year-old college student, had acute T-cell leukemia and his mother had morphologically abnormal lymphocytes with convoluted nuclei typically found in T-cell leukemia or lymphoma patients. Other family members, with the exception of the patient's sister, either had HTLV-related serum antibodies or expressed HTLV-related antigens (or both) in cultured T cells and expressed HTLV-1 particles. Acute T-cell leukemia is relatively frequent in natives of Kyushu and Shikoku in southwestern Japan. The family described by Sarin et al. (1983) was from Honshu in northwestern Japan and had no family ties to the 2 endemic areas. No consistent cytogenetic abnormality was found. </p><p>HTLV-1 and HTLV-2 can infect many types of human cells in vitro. Blocking assays of syncytium formation and of vesicular stomatitis virus pseudotypes bearing the envelope glycoproteins of HTLV show that these 2 viruses utilize the same cell surface receptor. Since the above-mentioned pseudotypes have a low plating efficiency on murine cells compared to human cells, Sommerfelt et al. (1988) were able to use human-mouse somatic cell hybrids to determine which human chromosome confers susceptibility to HTLV infection. The only human chromosome common to all susceptible cell hybrids was chromosome 17; the receptor gene was further localized to 17cen-qter. The receptor is probably a previously unidentified surface antigen because antibodies to nonsurface antigens did not block the HTLV receptor. It may be significant that in vivo HTLV-1 appears to integrate preferentially into chromosomes 7 and 17 (Seiki et al., 1984) and that rearrangements involving these chromosomes have been noted in adult T-cell leukemia cells. Furthermore, Hinrichs et al. (1987) found that transgenic mice expressing the tat gene of HTLV-1 develop a syndrome resembling neurofibromatosis (162200), a disorder that has been localized to human chromosome 17cen-q21. The only other retroviral receptor molecule unequivocally identified was the CD4 leukocyte antigen, which is used by HIV viruses involved in AIDS. </p><p>HTLV-1 is etiologically associated with adult T-cell leukemia/lymphoma and tropical spastic paraparesis (see 159580), while HTLV-2 is associated with T-cell hairy cell leukemia (HCL) (Rosenblatt et al., 1986). Ratner et al. (1990) described the cases of an adult black brother and sister who developed adult T-cell leukemia/lymphoma resulting from infection from HTLV-1. Both had lived almost exclusively in the area of St. Louis, Missouri. </p><p>Based on the fact that HTLV infection induces syncytium formation of infected cells as a result of interaction between the viral envelope and viral receptor, Tajima et al. (1997) performed a sensitive biologic assay using the recombinant vaccinia expression system. From the induced syncytium pattern of somatic hybrid cell lines with different deletions involving chromosome 17, Tajima et al. (1997) concluded that the HTLVR gene resides on 17q21-q23. </p><p>Familial hairy cell leukemia occurs rarely, and HCL occurring in association with other hematologic malignancies is even rarer. Makower et al. (1998) described a mother and son with HCL, and an HCL patient whose aunt developed Hodgkin disease (236000). This was said to be the first reported familial association of HCL with Hodgkin disease. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>24 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 GLUT1 DEFICIENCY SYNDROME 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, DEL
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<br />
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ClinVar: RCV000017485
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient originally reported by De Vivo et al. (1991) with severe manifestations related to a demonstrable defect in glucose transport across the blood-brain barrier (GLUT1DS1; 606777), Seidner et al. (1998) identified a heterozygous deletion of the GLUT1 gene. The deletion appeared to be a de novo mutation. </p><p>Wang et al. (2000) identified 1 patient who was hemizygous for the GLUT1 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 GLUT1 DEFICIENCY SYNDROME 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, LYS456TER
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<br />
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SNP: rs80359829,
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ClinVar: RCV000017486
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with severe clinical consequences of a defect in the transport of glucose across the blood-brain barrier (GLUT1DS1; 606777), Seidner et al. (1998) identified a heterozygous 1545A-T transversion in the SLC2A1 gene, resulting in a lys456-to-ter (K456X) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 GLUT1 DEFICIENCY SYNDROME 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, TYR449TER
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<br />
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SNP: rs80359828,
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ClinVar: RCV000017487
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient originally reported by De Vivo et al. (1991) with severe clinical consequences of a defect in the transport of glucose across the blood-brain barrier (GLUT1DS1; 606777), Seidner et al. (1998) identified a heterozygous 1526C-A transversion in the SLC2A1 gene, resulting in a tyr449-to-ter (Y449X) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, LYS256VAL
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<br />
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SNP: rs80359822,
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ClinVar: RCV000017488, RCV000189388, RCV002271986, RCV003445072, RCV003445073, RCV003445074, RCV003445075
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with blood-brain barrier glucose transport defect (see 606777), Wang et al. (2000) identified compound heterozygosity for 2 mutations in the SLC2A1 gene: a 945A-G transition in exon 5, resulting in a lys256-to-val (K256V) substitution on the maternally derived allele, and a 556G-T transversion in exon 4, resulting in an arg126-to-leu (R126L; 138140.0005) substitution on the paternally derived allele. In addition to having no noticeable symptoms of GLUT1 deficiency syndrome, the mother had no defect in erythrocyte glucose uptake in vitro. Wang et al. (2000) raised the possibility of a synergistic effect of these 2 mutations when present in compound heterozygous state. </p><p>Rotstein et al. (2010) provided further details of the patient with autosomal recessive GLUT1 deficiency syndrome reported by Wang et al. (2000). He developed recurrent limb stiffening and cyanosis at age 6 weeks. Seizures included tonic eye deviation, staring spells, myoclonic jerks, and prolonged and refractory generalized tonic-clonic seizures. He had delayed psychomotor development and progressive microcephaly. CSF showed hypoglycorrhachia. A ketogenic diet was helpful, but his developmental quotient was 42 at age 6 years. He had axial hypotonia, limb spasticity and dystonia, and severe ataxia. The patient's glucose uptake in red blood cells was 36% of controls. Studies in Xenopus oocytes showed 3.2% residual activity with the R126L-mutant protein and 12.7% residual activity with the K256V-mutant protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0005 GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, ARG126LEU
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<br />
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SNP: rs80359816,
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ClinVar: RCV000017489, RCV002271987
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the arg126-to-leu (R126L) mutation in the SLC2A1 gene that was found in compound heterozygous state in a patient with blood-brain barrier glucose transport defect (see 606777) by Wang et al. (2000), see 138140.0004. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0006 GLUT1 DEFICIENCY SYNDROME 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, GLY91ASP
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<br />
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SNP: rs80359814,
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ClinVar: RCV000017490
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Klepper et al. (2001) reported a father and 2 children from separate marriages affected by GLUT1 deficiency (GLUT1DS1; 606777) who were heterozygous for a gly91-to-asp (G91D) substitution in the GLUT1 gene. The father developed generalized tonic-clonic seizures and myoclonic seizures at age 3 years. As an adult, he had mild mental retardation, depression, and migraine. One daughter had mild spastic diplegia at age 9 months and showed developmental delay over the next 2 years. At age 3, she developed complex partial seizures. At age 10 years, she had moderate mental retardation, cerebellar ataxia, and mild pyramidal signs of the legs. The second daughter showed developmental delay, spastic diplegia, and generalized tonic-clonic seizures at age 2. Physical exam at age 22 years revealed moderate mental retardation, cerebellar ataxia, and spastic tetraplegia that predominantly involved the legs. The 2 daughters both had hypoglycorrhachia. The G91D amino acid change was predicted to affect an arg-X-gly-arg-arg motif between helices 2 and 3 that represents a highly conserved cytoplasmic anchor point. The uptake of 3-O-methyl-D-glucose into erythrocytes was significantly reduced, suggesting a quantitatively normal, but functionally impaired, GLUT1 protein at the cell membrane. </p><p>Klepper et al. (2001) demonstrated that expression of mutant G91D or G91A in Xenopus oocytes resulted in significantly decreased glucose transport (by about 40%) compared to wildtype. The mutant proteins were present at the plasma membrane at levels comparable to wildtype. Klepper et al. (2001) concluded that the loss of glycine at this position, rather than the introduction of aspartic acid, was responsible for the functional consequences observed in these patients. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GLUT1 DEFICIENCY SYNDROME 1</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, ARG126HIS
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<br />
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SNP: rs80359816,
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ClinVar: RCV000017491, RCV000081432, RCV001387741, RCV002288508
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a family with GLUT1 deficiency (GLUT1DS1; 606777), Brockmann et al. (2001) identified a heterozygous arg126-to-his (R126H) missense mutation in the SLC2A1 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GLUT1 DEFICIENCY SYNDROME 2</strong>
|
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</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, 12-BP DEL, NT1022
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<br />
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SNP: rs2124448824,
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ClinVar: RCV000017492, RCV002284173, RCV002513077, RCV003445076
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 4 affected members of a family with paroxysmal exertion-induced dyskinesia and hemolytic anemia (GLUT1DS2; 612126), Weber et al. (2008) identified a heterozygous 12-bp deletion (1022_1033del) in exon 6 of the SLC2A1 gene, resulting in a loss of 4 amino acids within the seventh transmembrane segment, which contains a highly conserved portion of the pore-forming region. The mutation was not detected in 150 controls. Clinical features included childhood onset of episodic involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements. In addition, all affected family members had a history of macrocytic hemolytic anemia with reticulocytosis. Two patients had seizures and 1 had decreased cognitive function with an IQ of 77. In vitro functional expression studies in Xenopus oocytes and human erythrocytes showed that the mutation decreased glucose transport and caused a cation leak that altered intracellular concentrations of sodium, potassium, and calcium. Based on these findings and brain imaging studies, Weber et al. (2008) concluded that the dyskinesias resulted from an exertion-induced energy deficit causing episodic dysfunction in the basal ganglia. The hemolysis resulted from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0009 GLUT1 DEFICIENCY SYNDROME 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, GLY314SER
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<br />
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SNP: rs121909739,
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ClinVar: RCV000017493, RCV000153967, RCV000473987, RCV001253635, RCV002288509
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 5 affected members of a family with GLUT1 deficiency syndrome-2 (GLUT1DS2; 612126), Weber et al. (2008) identified a heterozygous 1119G-A transition in the SLC2A1 gene, resulting in a gly314-to-ser (G314S) substitution in the eighth transmembrane segment. The phenotype was characterized by childhood-onset paroxysmal exertion-induced dyskinesia with epilepsy with absences or complex partial seizures, mild learning disabilities, and an irritable behavior with increased impulsivity in 6 affected members. Hematologic abnormalities were not observed. The mutation was also identified in 2 unaffected family members, indicating decreased penetrance. The mutation was not identified in 150 controls. In vitro functional expression studies showed that the mutation decreased glucose transport but did not affect cation permeability. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0010 GLUT1 DEFICIENCY SYNDROME 2</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, ALA275THR
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<br />
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SNP: rs121909740,
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gnomAD: rs121909740,
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ClinVar: RCV000017494, RCV000147534, RCV000189361, RCV001851890
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 5 affected members of a family with GLUT1 deficiency syndrome-2 (GLUT1DS2; 612126), Weber et al. (2008) identified a heterozygous 1002G-A transition in the SLC2A1 gene, resulting in an ala275-to-thr (A275T) substitution at the cytoplasmic end of transmembrane segment 7. The mutation was not identified in 150 controls. In vitro functional expression studies showed that the mutation decreased glucose transport but did not affect cation permeability. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0011 GLUT1 DEFICIENCY SYNDROME 2</strong>
|
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</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, ASN34ILE
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|
<br />
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SNP: rs80359812,
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ClinVar: RCV000030921
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 6-year-old boy with GLUT1 deficiency syndrome-2 (GLUT1DS2; 612126), Overweg-Plandsoen et al. (2003) identified a de novo heterozygous 280A-T transversion in exon 2 of the GLUT1 gene, resulting in an asn34-to-ile (N34I) substitution in the largest extracellular loop connecting transmembrane domains 1 and 2. He had an atypical phenotype in that he never had seizures. Clinical features included delayed psychomotor development, moderate mental retardation, dysarthria, limb ataxia, hyperreflexia, and dystonic posturing of the arms. The motor activity and coordination fluctuated throughout the day, which was unrelated to food intake. A ketogenic diet helped with the motor symptoms. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0012 GLUT1 DEFICIENCY SYNDROME 2</strong>
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</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, SER95ILE
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<br />
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SNP: rs267607060,
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ClinVar: RCV000017496
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a large Belgian family segregating paroxysmal exercise-induced dyskinesia with or without epilepsy (GLUT1DS2; 612126), Suls et al. (2008) identified a heterozygous ser95-to-ile (S95I) mutation in exon 4 of the SLC2A1 gene. The mutation resulted from a T-A transversion and a C-T transition at nucleotides 283 and 284, respectively. The mutation occurred in the cytosolic loop connecting transmembrane segments 2 and 3, and was not found in 184 ethnically matched controls. In vitro functional expression studies in Xenopus oocytes showed that the S95I mutant protein caused reduced glucose uptake with a decrease of maximal transport velocity compared to wildtype. Cation permeability was not affected, and none of the patients had hemolytic anemia. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0013 GLUT1 DEFICIENCY SYNDROME 2</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, ARG93TRP
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<br />
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SNP: rs267607061,
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gnomAD: rs267607061,
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ClinVar: RCV000030922, RCV000442654, RCV000648074, RCV001291641, RCV001548750, RCV004549375
|
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|
|
</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a 13-year-old boy with GLUT1 deficiency syndrome-2 (GLUT1DS2; 612126), Joshi et al. (2008) identified a heterozygous mutation in the SLC2A1 gene, resulting in an arg93-to-trp (R93W) substitution. The patient had an atypical phenotype, with delayed psychomotor development, early-onset ataxia, and hyperreflexia. He first developed a seizure disorder at age 11 years, with staring spells, head jerking, eye rolling, and loss of tone, which progressed to absence, myoclonic, and atonic seizures. His cognitive and motor skills deteriorated during this period. EEG showed moderate background slowing. Laboratory studies showed decreased CSF glucose and lactate, consistent with GLUT1 deficiency syndrome. A ketogenic diet resulted in complete seizure control with motor and cognitive improvement. </p><p>Rotstein et al. (2009) identified a de novo heterozygous R93W mutation in a 10-year-old boy with GLUT1 deficiency. At age 2 years, he had onset of episodic ataxia and slurred speech associated with unilateral muscle weakness. Laboratory studies showed significantly decreased CSF glucose levels. He showed gradual cognitive decline, progressive microcephaly, and ataxia during childhood. Rotstein et al. (2009) noted that the phenotype in this patient was reminiscent of alternating hemiplegia of childhood (104290). Studies of patient erythrocytes showed about a 50% decrease in glucose uptake compared to controls. The R93W substitution occurs in the first cytosolic loop of the protein. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 GLUT1 DEFICIENCY SYNDROME 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
GLUT1 DEFICIENCY SYNDROME 2, INCLUDED<br />
|
|
DYSTONIA 9, INCLUDED
|
|
</span>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
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|
SLC2A1, ARG126CYS
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<br />
|
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|
|
SNP: rs80359818,
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|
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gnomAD: rs80359818,
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|
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|
|
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ClinVar: RCV000017498, RCV000030838, RCV000030839, RCV000081431, RCV000546969, RCV000824987, RCV004737154, RCV004791223
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|
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|
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</span>
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</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In a 22-year-old Italian woman with GLUT1 deficiency syndrome-1 (GLUT1DS1; 606777), Zorzi et al. (2008) identified a heterozygous de novo mutation in the SLC2A1 gene, resulting in an arg126-to-cys (R126C) substitution. She had delayed psychomotor development, mild mental retardation, microcephaly, dysarthria, and spasticity. She had onset of complex partial seizures at age 4 months. At age 10, she developed paroxysmal exercise-induced leg dystonia. CSF glucose was reduced at 31 mg/dl. </p><p>Suls et al. (2009) identified a de novo heterozygous R126C mutation, resulting from a 376C-T transition in exon 4 of the GLUT1 gene, in a 12-year-old girl who developed absence seizures and myoclonus at age 14 months. She had mild gait ataxia, subtle paroxysmal exercise-induced dyskinesia, and moderate mental retardation, consistent with GLUT1DS2 (612126). The mutation occurred in a highly conserved region of transmembrane domain 4, and was not found in 276 control chromosomes. In vitro functional expression studies in Xenopus oocytes showed that the mutation resulted in decreased glucose transport without affecting glucose binding. Mutations in the same codon (R126L; 138140.0005 and R126H; 138140.0007) have been found in other patients with GLUT1DS1. </p><p>Weber et al. (2011) identified a heterozygous R126C mutation in Australian twin brothers with dystonia-9 (DYT9; 601042) and mental retardation. Both had onset in early childhood of paroxysmal choreoathetosis and progressive spastic paraparesis; ataxia was not observed. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 GLUT1 DEFICIENCY SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
SLC2A1, ARG91TRP
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs202060209,
|
|
|
|
|
|
gnomAD: rs202060209,
|
|
|
|
|
|
ClinVar: RCV000017499, RCV000426262, RCV000705009, RCV000850197, RCV001843456, RCV002243647, RCV003445077
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 25-year-old Caucasian English woman with GLUT1 deficiency syndrome-2 (GLUT1DS2; 612126), Schneider et al. (2009) identified a de novo heterozygous 274C-T transition in the SLC2A1 gene, resulting in an arg91-to-trp (R91W) substitution. The mutation was not found in 382 control chromosomes. The patient developed paroxysmal exercise-induced dyskinesias in early childhood. She also had absence seizures between ages 4 and 10 years, and developed migraine with visual aura at age 11. The migraines were occasionally associated with hemiplegia. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A1, ARG468TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267607059,
|
|
|
|
|
|
|
|
ClinVar: RCV000017500, RCV001548577, RCV002271988, RCV004737155
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 6-year-old girl, born of consanguineous Arab parents from a Bedouin kindred from Qatar, with GLUT1 deficiency syndrome-1 (see 606777), Klepper et al. (2009) identified a homozygous 1402C-T transition in exon 10 of the SLC2A1 gene, resulting in an arg468-to-trp (R468W) substitution. She was noted to have unsteady ataxic gait at age 18 months, as well as paroxysmal choreoathetosis. She also had developmental delay and hypotonia. EEG showed a polymorphic baseline alpha-theta activity with an isolated monomorphic sharp wave focus. Lumbar puncture showed hypoglycorrhachia and decreased CSF lactate. Her clinically asymptomatic 2-year-old sister was also homozygous for the mutation; she was found to have hypoglycorrhachia and decreased CSF lactate. The parents, who were unaffected, were heterozygous for the mutation. Klepper et al. (2009) concluded that the mutation was pathogenic, since the affected residue is highly conserved, is located in the C terminus which is essential for substrate recognition and transport, and was not found in 120 control alleles. Klepper et al. (2009) suggested that the unaffected sister who was homozygous for the mutation was too young for symptom onset. The findings suggested that GLUT1 deficiency can also be inherited in an autosomal recessive pattern. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 GLUT1 DEFICIENCY SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A1, 3-BP INS, TAT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2124448406,
|
|
|
|
|
|
|
|
ClinVar: RCV000022575
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old girl with GLUT1 deficiency syndrome-2 (GLUT1DS2; 612126), Perez-Duenas et al. (2009) identified a heterozygous de novo 3-bp insertion (TAT) in the SLC2A1 gene, resulting in addition of a tyrosine at codon 292 in the extracellular boundary of the seventh transmembrane domain, predicted to impair blood-brain glucose flux. She already had delayed psychomotor development but presented at age 5 years with episodic flaccidity and loss of ambulation. The episodes continued and were accompanied by gait ataxia, dysarthria, dyskinesias, and choreic movements. Milder features included action tremor, upper limb dysmetria, and ataxia. Brain MRI showed moderately severe supratentorial cortico-subcortical atrophy, and EEG showed mild diffuse slowing. CSF glucose was decreased. Institution of a ketogenic diet resulted in clinical improvement of the movement disorder and increased brain growth, although cognitive skills did not improve. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 DYSTONIA 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A1, ARG212CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907312,
|
|
|
|
|
|
|
|
ClinVar: RCV000030840, RCV000255028, RCV000814788, RCV003445090
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a large German family with dystonia-9 (DYT9; 601042), originally reported by Auburger et al. (1996), Weber et al. (2011) identified a heterozygous 634C-T transition in the SLC2A1 gene, resulting in an arg212-to-cys (R212C) substitution in the third intracellular loop close to the sixth transmembrane segment. The mutation was not found in 400 control chromosomes. In vitro functional expression studies showed that the mutant protein had normal expression at the cell surface, but decreased glucose uptake compared to wildtype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A1, ARG232CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907313,
|
|
|
|
|
|
gnomAD: rs387907313,
|
|
|
|
|
|
ClinVar: RCV000030841, RCV000189356, RCV001063268, RCV003445091
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 8 affected members of an Italian family with idiopathic generalized epilepsy-12 (EIG12; 614847), Striano et al. (2012) identified a heterozygous 694C-T transition in the SLC2A1 gene, resulting in an arg232-to-cys (R232C) substitution at a highly conserved residue in the third intracellular loop. The mutation was not found in 846 normal controls. The mutation was also found in 4 healthy adult family members, yielding a penetrance of 67%. In vitro functional studies showed that the mutant protein was expressed at the cell surface, but had mildly decreased glucose uptake (70%) compared to wildtype. The findings suggested that GLUT1 deficiency is a rare cause of typical EIG, and also expanded the phenotypic spectrum associated with mutations in the SLC2A1 gene. The age at seizure onset ranged from early childhood to 23 years. All had generalized seizures, mainly typical absence seizures, and EEG showed regular, symmetric discharges of 3 to 3.5 Hz spike wave complexes. Seizures typically remitted 2 to 5 years after onset, although 1 patient later developed juvenile myoclonic epilepsy. Most showed a favorable response to pharmacologic treatment. None of the patients had other neurologic manifestations, including movement disorders. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A1, ARG223PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514564,
|
|
|
|
|
|
gnomAD: rs397514564,
|
|
|
|
|
|
ClinVar: RCV000032904
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 28-year old woman with idiopathic generalized epilepsy-12 (EIG12; 614847) manifest as childhood onset of absence seizures at age 3 and generalized seizures at age 7, Suls et al. (2009) identified a heterozygous 668G-C transversion in exon 5 of the SLC2A1 gene, resulting in an arg223-to-pro (R223P) substitution at a residue conserved only in mammals. Intelligence was normal and she was seizure-free with medication since age 7. In vitro functional expression studies showed that the mutant protein had significantly decreased glucose uptake in Xenopus oocytes compared to controls. </p><p>Lee et al. (2015) identified serine-226 (S226) in GLUT1 as a protein kinase C (PKC) phosphorylation site. In vitro kinase studies, mass spectrometry, and phosphospecific antibody studies showed that phosphorylation of S226 was required for enhanced cell surface localization of GLUT1 and for a rapid increase in glucose uptake under induced conditions in endothelial cells. Several naturally occurring GLUT1 mutations, including R223P, impaired the phosphorylation of S226, resulting in decreased responsiveness of surface relocalization of GLUT1 despite the presence of endogenous GLUT1. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SLC2A1, ARG458TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs13306758,
|
|
|
|
|
|
gnomAD: rs13306758,
|
|
|
|
|
|
ClinVar: RCV000082868, RCV000423069, RCV000701550, RCV000762930, RCV003445507
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
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<p>In a 30-year-old man with idiopathic generalized epilepsy (EIG12; 614847), Arsov et al. (2012) identified a heterozygous c.1372C-T transition in exon 10 of the SLC2A1 gene, resulting in an arg458-to-trp (R458W) substitution at a highly conserved residue. In vitro functional expression studies in Xenopus oocytes showed that the R458W substitution caused a marked reduced in glucose transport. The patient had onset of childhood absence epilepsy at age 6 and developed paroyxsmal exertional dyskinesia in his teens. He also had arm dystonia. The patient's father, who also carried the mutation, had onset of childhood absence seizures at age 7, developed PED as an adult, and had disabling leg dyskinesia when walking. The father's unaffected 66-year-old sister also carried the mutation, indicating incomplete penetrance. The proband was identified from a cohort of 504 probands with IGE who underwent direct sequencing of the SLC2A1 gene. The mutation was not found in 470 controls and had not previously been reported in databases of normal human genetic variation. </p>
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</span>
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<span class="mim-font">
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<strong>.0022 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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SLC2A1, ASN411SER
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<br />
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SNP: rs398123069,
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ClinVar: RCV000082869, RCV001224070, RCV001588909
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<span class="mim-text-font">
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<p>In 2 adult brothers with idiopathic generalized epilepsy (EIG12; 614847), Arsov et al. (2012) identified a heterozygous c.1232A-G transition in exon 9 of the SLC2A1 gene, resulting in an asn411-to-ser (N411S) substitution at a highly conserved residue. In vitro functional expression studies in Xenopus oocytes showed that the N411S substitution caused a marked reduced in glucose transport. Both patients developed childhood absence epilepsy at age 6 years; 1 also had juvenile myoclonic epilepsy. The proband was identified from a cohort of 504 probands with IGE who underwent direct sequencing of the SLC2A1 gene. The mutation was not found in 470 controls and had not previously been reported in databases of normal human genetic variation. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0023 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS</strong>
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</span>
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</h4>
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<div>
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<span class="mim-text-font">
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SLC2A1, GLY286ASP
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<br />
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SNP: rs864309514,
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ClinVar: RCV000202596, RCV003221858
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<span class="mim-text-font">
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<p>In a patient (sdCHC-A) with stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; 608885), originally reported by Fricke et al. (2004) as patient D-II-2, Flatt et al. (2011) identified a heterozygous G-to-A transition in the SLC2A1 gene, resulting in a gly286-to-asp (G286D) substitution at a highly conserved residue. The G286D mutation was not found in the unaffected parents, in 2 unaffected sibs, or in 35 controls, and Flatt et al. (2011) postulated that it was a de novo mutation. Patient red cells had decreased levels of stomatin (STOM; 133090) at the membrane, but normal levels of SLC2A1 and most other membrane proteins. Confocal imaging studies of developing erythrocytes suggested that the loss of stomatin occurred late during reticulocyte maturation and involved endocytosis. In vitro functional expression assays in Xenopus oocytes showed that the mutant protein did not transport glucose and leaked cations. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0024 STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLC2A1, 3-BP DEL, ATC
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<br />
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SNP: rs864309522,
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ClinVar: RCV000202573, RCV000622580, RCV001280695, RCV003445691
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a patient (sdCHC-B) with stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; 608885), originally reported by Fricke et al. (2004) as patient E-II-1, Flatt et al. (2011) identified a heterozygous in-frame 3-bp deletion (ATCdel), resulting in the deletion of either conserved residues ile435 or ile436 in the C-terminal membrane span TM12. The mutation was not found in 35 controls, but patient relatives were not available for genetic analysis; Flatt et al. (2011) postulated that it was a de novo mutation. In vitro functional expression assays in Xenopus oocytes showed that the mutant protein did not transport glucose and leaked cations. </p><p>In a girl with SDCHCN, Bawazir et al. (2012) identified a de novo heterozygous ile435del or ile436del mutation. Red cell cation content showed extremely leaky red cells. Western blot analysis showed that GLUT1 was expressed normally at the red cell membrane, whereas stomatin (STOM1; 133090) levels were decreased. The authors suggested that the multisystem pathology in this disorder likely reflects a combination of glucose transport deficiency at the blood-brain barrier, resulting in neurologic deficits consistent with GLUT1 deficiency syndrome-1 (GLUT1DS1; 606777), and red cell membrane cation defects, resulting in pseudohyperkalemia and red cell hemolysis. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Sarkar et al. (1988)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<ol>
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<strong>Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters.</strong>
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Ardinger, R. H., Jr., Buetow, K. H., Weiss, M. J., Nemer, M., DeHaven, C. R., Murray, J. C.
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<strong>Multipoint linkage relationships of 6 loci on 1p (ALPL, GLUT, PGD, PGM1, PND, RH). (Abstract)</strong>
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<strong>A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197.</strong>
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Baroni, M. G., Oelbaum, R. S., Pozzilli, P., Stocks, J., Li, S.-R., Fiore, V., Galton, D. J.
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<strong>Polymorphisms at the GLUT1 (HepG2) and GLUT4 (muscle/adipocyte) glucose transporter genes and non-insulin-dependent diabetes mellitus (NIDDM).</strong>
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Bawazir, W. M., Gevers, E. F., Flatt, J. F., Ang, A. L., Jacobs, B., Oren, C., Grunewald, S., Dattani, M., Bruce, L. J., Stewart, G. W.
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<strong>An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation.</strong>
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Brockmann, K., Wang, D., Korenke, C. G., von Moers, A., Ho, Y.-Y., Pascual, J. M., Kuang, K., Yang, H., Ma, L., Kranz-Eble, P., Fischbarg, J., Hanefeld, F., De Vivo, D. C.
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Chi, M. M.-Y., Pingsterhaus, J., Carayannopoulos, M., Moley, K. H.
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<strong>Decreased glucose transporter expression triggers BAX-dependent apoptosis in the murine blastocyst.</strong>
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De Vivo, D. C., Trifiletti, R. R., Jacobson, R. I., Ronen, G. M., Behmand, R. A., Harik, S. I.
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<strong>Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.</strong>
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Deng, D., Xu, C., Sun, P., Wu, J., Yan, C., Hu, M., Yan, N.
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Flatt, J. F., Guizouarn, H., Burton, N. M., Borgese, F., Tomlinson, R. J., Forsyth, R. J., Baldwin, S. A., Levinson, B. E., Quittet, P., Aguilar-Martinez, P., Delaunay, J., Stewart, G. W., Bruce, L. J.
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<strong>Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.</strong>
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Fricke, B., Jarvis, H. G., Reid, C. D. L., Aguilar-Martinez, P., Robert, A., Quittet, P., Chetty, M., Pizzey, A., Cynober, T., Lande, W. F., Mentzer, W. C., von During, M., Winter, S., Delaunay, J., Stewart, G. W.
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Gallo, R. C., Mann, D., Broder, S., Ruscetti, F. W., Maeda, M., Kalyanaraman, V. S., Robert-Guroff, M., Reitz, M. S.
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Hamilton, B. J., Nichols, R. C., Tsukamoto, H., Boado, R. J., Pardridge, W. M., Rigby, W. F. C.
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<strong>hnRNP A2 and hnRNP L bind the 3-prime UTR of glucose transporter 1 mRNA and exist as a complex in vivo.</strong>
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Biochem. Biophys. Res. Commun. 261: 646-651, 1999.
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Heilig, C. W., Saunders, T., Brosius, F. C., III, Moley, K., Heilig, K., Baggs, R., Guo, L., Conner, D.
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<strong>Glucose transporter-1-deficient mice exhibit impaired development and deformities that are similar to diabetic embryopathy.</strong>
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Proc. Nat. Acad. Sci. 100: 15613-15618, 2003.
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Hinrichs, S. H., Nerenberg, M., Reynolds, R. K., Khoury, G., Jay, G.
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<strong>A transgenic mouse model for human neurofibromatosis.</strong>
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Science 237: 1340-1343, 1987.
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Joshi, C., Greenberg, C. R., De Vivo, D., Wang, D., Chan-Lui, W., Booth, F. A.
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Klepper, J., Monden, I., Guertsen, E., Voit, T., Willemsen, M., Keller, K.
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<strong>Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene.</strong>
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[PubMed: 11389907]
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<p class="mim-text-font">
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Klepper, J., Scheffer, H., Elsaid, M. F., Kamsteeg, E.-J., Leferink, M., Ben-Omran, T.
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<strong>Autosomal recessive inheritance of GLUT1 deficiency syndrome.</strong>
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[PubMed: 20221955]
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[Full Text: https://doi.org/10.1055/s-0030-1248264]
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</p>
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<li>
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<p class="mim-text-font">
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Klepper, J., Willemsen, M., Verrips, A., Guertsen, E., Herrmann, R., Kutzick, C., Florcken, A., Voit, T.
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<strong>Autosomal dominant transmission of GLUT1 deficiency.</strong>
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Hum. Molec. Genet. 10: 63-68, 2001.
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[PubMed: 11136715]
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[Full Text: https://doi.org/10.1093/hmg/10.1.63]
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<li>
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<p class="mim-text-font">
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Lazar, V., Bidart, J.-M., Caillou, B., Mahe, C., Lacroix, L., Filetti, S., Schlumberger, M.
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Wang, D., Pascual, J. M., Yang, H., Engelstad, K., Mao, X., Cheng, J., Yoo, J., Noebels, J. L., De Vivo, D. C.
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Weber, Y. G., Kamm, C., Suls, A., Kempfle, J., Kotschet, K., Schule, R., Wuttke, T. V., Maljevic, S., Liebrich, J., Gasser, T., Ludolph, A. C., Van Paesschen, W., Schols, L., De Jonghe, P., Auburger, G., Lerche, H.
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<strong>Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.</strong>
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Weber, Y. G., Storch, A., Wuttke, T. V., Brockmann, K., Kempfle, J., Maljevic, S., Margari, L., Kamm, C., Schneider, S. A., Huber, S. M., Pekrun, A., Roebling, R., and 17 others.
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Xiang, K., Cox, N. J., Karam, J. H., Bell, G. I.
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<strong>Bgl II RFLP at the human erythrocyte/HepG2-type glucose transporter (GLUT) locus on chromosome 1.</strong>
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Yun, J., Rago, C., Cheong, I., Pagliarini, R., Angenendt, P., Rajagopalan, H., Schmidt, K., Willson, J. K. V., Markowitz, S., Zhou, S., Diaz, L. A., Jr., Velculescu, V. E., Lengauer, C., Kinzler, K. W., Vogelstein, B., Papadopoulos, N.
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<strong>Glucose deprivation contributes to the development of KRAS pathway mutations in tumor cells.</strong>
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Zheng, P.-P., Romme, E., van der Spek, P. J., Dirven, C. M. F., Willemsen, R., Kros, J. M.
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<strong>Glut1/SLC2A1 is crucial for the development of the blood-brain barrier in vivo.</strong>
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[PubMed: 21194153]
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Zorzi, G., Castellotti, B., Zibordi, F., Gellera, C., Nardocci, N.
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<strong>Paroxysmal movement disorders in GLUT1 deficiency syndrome.</strong>
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Contributors:
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Bao Lige - updated : 12/07/2018<br>Matthew B. Gross - updated : 03/23/2017<br>Cassandra L. Kniffin - updated : 12/16/2015<br>Ada Hamosh - updated : 6/26/2014<br>Cassandra L. Kniffin - updated : 1/8/2014<br>Cassandra L. Kniffin - updated : 10/18/2012<br>Cassandra L. Kniffin - updated : 10/4/2012<br>Cassandra L. Kniffin - updated : 4/11/2011<br>Cassandra L. Kniffin - updated : 3/16/2011<br>Cassandra L. Kniffin - updated : 2/23/2011<br>Ada Hamosh - updated : 10/13/2009<br>Patricia A. Hartz - updated : 9/17/2009<br>Cassandra L. Kniffin - updated : 6/25/2008<br>Patricia A. Hartz - updated : 5/29/2008<br>Cassandra L. Kniffin - updated : 5/3/2005<br>Stylianos E. Antonarakis - updated : 9/2/2004<br>Cassandra L. Kniffin - updated : 8/16/2004<br>Natalie E. Krasikov - updated : 3/5/2004<br>Ada Hamosh - updated : 9/18/2003<br>Victor A. McKusick - updated : 1/30/2003<br>Cassandra L. Kniffin - reorganized : 3/22/2002<br>Victor A. McKusick - updated : 12/5/2001<br>George E. Tiller - updated : 3/16/2001<br>John A. Phillips, III - updated : 8/9/2000<br>Victor A. McKusick - updated : 9/15/1999<br>Victor A. McKusick - updated : 1/26/1998<br>Victor A. McKusick - updated : 1/15/1998
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Victor A. McKusick : 8/28/1987
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