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Entry
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- *601485 - SYNTAXIN 1B; STX1B
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601485</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<li role="presentation">
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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="#mapping">Mapping</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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<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">
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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/601485">Table View</a>
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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 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=ENSG00000099365;t=ENST00000215095" 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=112755" 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=601485" 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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</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=ENSG00000099365;t=ENST00000215095" 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_052874,XM_017022893" 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_052874" 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=601485" 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=18126&isoform_id=18126_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/STX1B" 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/15072437,16418379,37782402,38383110,47117086,66393091,119572563,1034593472,2462547271" 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/P61266" 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=112755" 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=ENSG00000099365;t=ENST00000215095" 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=STX1B" 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=STX1B" 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+112755" 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/STX1B" 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:112755" 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/112755" 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=chr16&hgg_gene=ENST00000215095.11&hgg_start=30989256&hgg_end=31010638&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/genes/HGNC:18539" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601485[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=601485[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/STX1B/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/ENSG00000099365" 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=STX1B" 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=STX1B" 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=STX1B" 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=STX1B&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/PA38345" 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:18539" 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/FBgn0013343.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:1930705" 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/STX1B#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:1930705" 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/112755/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=112755" 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="https://wormbase.org/db/gene/gene?name=WBGene00006798;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-000330-4" 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="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:112755" 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=STX1B&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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</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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601485
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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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SYNTAXIN 1B; STX1B
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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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<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=STX1B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">STX1B</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/16/374?start=-3&limit=10&highlight=374">16p11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:30989256-31010638&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'})">16:30,989,256-31,010,638</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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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/16/374?start=-3&limit=10&highlight=374">
|
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16p11.2
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</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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Generalized epilepsy with febrile seizures plus, type 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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<a href="/entry/616172"> 616172 </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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</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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<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">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/601485" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/601485" 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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<div>
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<br />
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</div>
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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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</span>
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</span>
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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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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Syntaxins are cellular receptors for transport vesicles (see <a href="/entry/603765">603765</a>). One of these proteins, designated syntaxin 1B (STX1B), is directly implicated in the process of calcium-dependent synaptic transmission in rat brain (<a href="#4" class="mim-tip-reference" title="Smirnova, T., Stinnakre, J., Mallet, J. <strong>Characterization of a presynaptic glutamate receptor.</strong> Science 262: 430-433, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8105537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8105537</a>] [<a href="https://doi.org/10.1126/science.8105537" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8105537">Smirnova et al., 1993</a>). The expression of this protein is transiently induced by long-term potentiation of synaptic responses in the rat hippocampus. The protein may play an important role in the excitatory pathway of synaptic transmission, which is known to be implicated in several neurologic diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8105537" 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><a href="#5" class="mim-tip-reference" title="Vardar, G., Gerth, F., Schmitt, X. J., Rautenstrauch, P., Trimbuch, T., Schubert, J., Lerche, H., Rosenmund, C., Freund, C. <strong>Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.</strong> Brain 143: 2119-2138, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32572454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32572454</a>] [<a href="https://doi.org/10.1093/brain/awaa151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32572454">Vardar et al. (2020)</a> noted that human STX1B contains an N-terminal H(abc) domain formed by 3 helices, H(a), H(b), and H(c), followed by the SNARE domain and a transmembrane region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32572454" 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><a href="#3" class="mim-tip-reference" title="Smirnova, T., Miniou, P., Viegas-Pequignot, E., Mallet, J. <strong>Assignment of the human syntaxin 1B gene (STX) to chromosome 16p11.2 by fluorescence in situ hybridization.</strong> Genomics 36: 551-553, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8884284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8884284</a>] [<a href="https://doi.org/10.1006/geno.1996.0506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8884284">Smirnova et al. (1996)</a> mapped the human STX1B gene to 16p11.2 by fluorescence in situ hybridization. The gene was found at a single locus. Chromosome rearrangements with breaks in 16p11 are observed in myxoid liposarcoma and in acute myeloid leukemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8884284" 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><a href="#3" class="mim-tip-reference" title="Smirnova, T., Miniou, P., Viegas-Pequignot, E., Mallet, J. <strong>Assignment of the human syntaxin 1B gene (STX) to chromosome 16p11.2 by fluorescence in situ hybridization.</strong> Genomics 36: 551-553, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8884284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8884284</a>] [<a href="https://doi.org/10.1006/geno.1996.0506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8884284">Smirnova et al. (1996)</a> noted that a tumor that displays neuroendocrine properties, small cell lung cancer (<a href="/entry/182280">182280</a>), has been observed in about 60% of patients with Lambert-Eaton myasthenic syndrome, an autoimmune disease of neurotransmission that is characterized by muscle weakness (<a href="#6" class="mim-tip-reference" title="Vincent, A., Lang, B., Newsom-Davis, J. <strong>Autoimmunity to the voltage-gated calcium channel underlies the Lambert-Eaton myasthenic syndrome, a paraneoplastic disorder.</strong> Trends Neurosci. 12: 496-502, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2480664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2480664</a>] [<a href="https://doi.org/10.1016/0166-2236(89)90109-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2480664">Vincent et al., 1989</a>). Autoantibodies from these patients recognize the presynaptic N-type calcium channel and synaptotagmin (<a href="/entry/185605">185605</a>), 2 proteins that are involved in synaptic transmission and interact with syntaxin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8884284+2480664" 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 affected members of the families with generalized epilepsy with febrile seizures plus-9 (GEFSP9; <a href="/entry/616172">616172</a>) reported by <a href="#1" class="mim-tip-reference" title="Lerche, H., Weber, Y. G., Baier, H., Jurkat-Rott, K., Kraus de Camargo, O., Ludolph, A. C., Bode, H., Lehmann-Horn, F. <strong>Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.</strong> Neurology 57: 1191-1198, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11591834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11591834</a>] [<a href="https://doi.org/10.1212/wnl.57.7.1191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11591834">Lerche et al. (2001)</a> and <a href="#7" class="mim-tip-reference" title="Weber, Y. G., Jacob, M., Weber, G., Lerche, H. <strong>A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</strong> Epilepsia 49: 1959-1964, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18479394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18479394</a>] [<a href="https://doi.org/10.1111/j.1528-1167.2008.01646.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18479394">Weber et al. (2008)</a>, <a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> identified different heterozygous truncating mutations in the STX1B gene (<a href="#0001">601485.0001</a> and <a href="#0002">601485.0002</a>, respectively). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families. Sequencing of this gene in 3 additional cohorts of patients with seizures identified a mutation in 1 of 299 probands with febrile seizures or epileptic encephalopathies; in 1 of 81 adults with various forms of epilepsy and intellectual disability; and in 1 of 68 patients with epileptic encephalopathies. <a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> noted the wide phenotypic spectrum of epilepsy associated with STX1B mutations, ranging from incomplete penetrance without symptoms to simple febrile seizures to severe epileptic encephalopathies. The findings implicated the STX1B gene and the presynaptic release machinery in fever-associated epilepsy syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11591834+18479394+25362483" 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>Functional Studies of STX1B Mutations</em></strong></p><p>
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By rescue analysis in Stx1-/- mouse hippocampal neurons, <a href="#5" class="mim-tip-reference" title="Vardar, G., Gerth, F., Schmitt, X. J., Rautenstrauch, P., Trimbuch, T., Schubert, J., Lerche, H., Rosenmund, C., Freund, C. <strong>Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.</strong> Brain 143: 2119-2138, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32572454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32572454</a>] [<a href="https://doi.org/10.1093/brain/awaa151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32572454">Vardar et al. (2020)</a> showed that the STX1B indel mutation (<a href="#0002">601485.0002</a>) compromised general STX1B function in neuronal survival, whereas the STX1B gly226-to-arg (G226R; <a href="#0005">601485.0005</a>) and val216-to-glu (V216E; <a href="#0004">601485.0004</a>) did not. The indel mutation, which is within the first helix of the H(abc) domain, interfered with proper STX1B folding and destabilized the protein, although the mutant protein was able to form functional SNARE complexes. The G226R and V216E mutants could also form stable SNARE complexes, but they showed altered interaction with Munc18-1 (<a href="/entry/602926">602926</a>), which differentially affected their neurotransmission. Synaptic transmission was unaltered in Stx1b +/- mouse neurons exogenously expressing any of the 3 mutants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32572454" 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><a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> found that morpholino knockout of the stx1b gene in zebrafish resulted in abnormal episodic behavior, including repetitive fin fluttering, increased orofacial movements, and myoclonus-like jerks, as well as abnormal spontaneous epileptiform brain activity with polyspiking discharges and high-frequency oscillations. Elevation of temperature increased the occurrence of epileptiform events, specifically high-frequency oscillations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25362483" 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 affected members of a large 5-generation German family with generalized epilepsy with febrile seizures plus-9 (GEFSP9; <a href="/entry/616172">616172</a>), originally reported by <a href="#1" class="mim-tip-reference" title="Lerche, H., Weber, Y. G., Baier, H., Jurkat-Rott, K., Kraus de Camargo, O., Ludolph, A. C., Bode, H., Lehmann-Horn, F. <strong>Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.</strong> Neurology 57: 1191-1198, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11591834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11591834</a>] [<a href="https://doi.org/10.1212/wnl.57.7.1191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11591834">Lerche et al. (2001)</a>, <a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> identified a heterozygous c.166C-T transition in the STX1B gene, resulting in a gln56-to-ter (Q56X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP (build 135), 1000 Genomes Project, or Exome Variant Server databases, or in 188 German controls. One unaffected family member also carried the mutation, consistent with incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11591834+25362483" 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>.0002 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9</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">rs1114167275 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1114167275;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=rs1114167275" 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=rs1114167275" 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=RCV000149791" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149791" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149791</a>
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<p>In affected members of a large 4-generation German family with GEFSP9 (<a href="/entry/616172">616172</a>), originally reported by <a href="#7" class="mim-tip-reference" title="Weber, Y. G., Jacob, M., Weber, G., Lerche, H. <strong>A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</strong> Epilepsia 49: 1959-1964, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18479394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18479394</a>] [<a href="https://doi.org/10.1111/j.1528-1167.2008.01646.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18479394">Weber et al. (2008)</a>, <a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> identified a heterozygous complex insertion/deletion mutation in the STX1B gene (c.133_134insGGATGTGCATTG, resulting in Lys45delinsArgMetCysIleGlu, and c.135_136AC-GA, resulting in a leu46-to-met (L46M) substitution). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. It was not found in the dbSNP (build 135), 1000 Genomes Project, or Exome Variant Server databases, or in 188 German controls. Two unaffected family members carried the mutation, consistent with incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18479394+25362483" 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 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9</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> rs200979563 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200979563;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/rs200979563?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=rs200979563" 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=rs200979563" 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=RCV000149792 OR RCV001374902" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149792, RCV001374902" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149792...</a>
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<p>In a Dutch patient with GEFSP9 (<a href="/entry/616172">616172</a>), <a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> identified a heterozygous c.140C-A transversion in the STX1B gene, resulting in a ser47-to-ter (S47X) substitution. The mutation was not present in the patient's unaffected father, but maternal DNA was not available. The patient was ascertained from a cohort of 299 unrelated probands with epilepsies who were tested for STX1B mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25362483" 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 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9</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">rs724159974 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs724159974;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=rs724159974" 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=rs724159974" 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=RCV000149793" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149793" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149793</a>
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<p>In an adult Swiss patient with GEFSP9 (<a href="/entry/616172">616172</a>), <a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> identified a heterozygous c.657T-A transversion in the STX1B gene, resulting in a val216-to-glu (V216E) substitution at a highly conserved residue in the SNARE motif. Parental DNA was not available. The patient was ascertained from a cohort of 81 adults with various forms of epilepsy and intellectual disability. The V216E variant was unable to rescue the seizure phenotype of zebrafish with morpholino knockdown of stx1b, indicating that the mutation results in a loss of function. The patient had onset of seizures at age 3.5 years, and showed speech delay, moderate intellectual disability, ataxia, and cerebellar atrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25362483" 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 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9</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">rs727502806 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502806;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=rs727502806" 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=rs727502806" 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 German patient with a severe form of GEFSP9 (<a href="/entry/616172">616172</a>) manifest as myoclonic-astatic epilepsy, <a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> identified a de novo heterozygous c.676G-C transversion in the STX1B gene, resulting in a gly226-to-arg (G226R) substitution at a highly conserved residue in the SNARE motif. The patient was ascertained from a larger cohort of 68 patients with epileptic encephalopathy. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25362483" 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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Neurology 57: 1191-1198, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11591834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11591834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11591834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<p class="mim-text-font">
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Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others.
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<strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong>
|
|
Nature Genet. 46: 1327-1332, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25362483" 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/10.1038/ng.3130" 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="3" class="mim-anchor"></a>
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<a id="Smirnova1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smirnova, T., Miniou, P., Viegas-Pequignot, E., Mallet, J.
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<strong>Assignment of the human syntaxin 1B gene (STX) to chromosome 16p11.2 by fluorescence in situ hybridization.</strong>
|
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Genomics 36: 551-553, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8884284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8884284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8884284" 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/10.1006/geno.1996.0506" 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="4" class="mim-anchor"></a>
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<a id="Smirnova1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smirnova, T., Stinnakre, J., Mallet, J.
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<strong>Characterization of a presynaptic glutamate receptor.</strong>
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Science 262: 430-433, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8105537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8105537</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8105537" 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/10.1126/science.8105537" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Vardar2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vardar, G., Gerth, F., Schmitt, X. J., Rautenstrauch, P., Trimbuch, T., Schubert, J., Lerche, H., Rosenmund, C., Freund, C.
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<strong>Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.</strong>
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Brain 143: 2119-2138, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32572454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32572454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32572454" 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/brain/awaa151" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Vincent1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vincent, A., Lang, B., Newsom-Davis, J.
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<strong>Autoimmunity to the voltage-gated calcium channel underlies the Lambert-Eaton myasthenic syndrome, a paraneoplastic disorder.</strong>
|
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Trends Neurosci. 12: 496-502, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2480664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2480664</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2480664" 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/10.1016/0166-2236(89)90109-4" target="_blank">Full Text</a>]
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Weber2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weber, Y. G., Jacob, M., Weber, G., Lerche, H.
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<strong>A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</strong>
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Epilepsia 49: 1959-1964, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18479394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18479394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18479394" 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/10.1111/j.1528-1167.2008.01646.x" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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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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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Bao Lige - updated : 06/06/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="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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Cassandra L. Kniffin - updated : 1/8/2015
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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 : 10/25/1996
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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 : 06/06/2023
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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">
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carol : 03/17/2015<br>carol : 1/9/2015<br>carol : 1/9/2015<br>mcolton : 1/8/2015<br>ckniffin : 1/8/2015<br>alopez : 11/29/2010<br>ckniffin : 1/25/2005<br>carol : 8/13/2001<br>dkim : 7/24/1998<br>alopez : 6/27/1997<br>mark : 10/25/1996
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</span>
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</div>
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<div class="container visible-print-block">
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 601485
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SYNTAXIN 1B; STX1B
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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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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: STX1B</em></strong>
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</span>
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</p>
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<strong>
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<em>
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Cytogenetic location: 16p11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:30,989,256-31,010,638 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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16p11.2
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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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Generalized epilepsy with febrile seizures plus, type 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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616172
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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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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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>Syntaxins are cellular receptors for transport vesicles (see 603765). One of these proteins, designated syntaxin 1B (STX1B), is directly implicated in the process of calcium-dependent synaptic transmission in rat brain (Smirnova et al., 1993). The expression of this protein is transiently induced by long-term potentiation of synaptic responses in the rat hippocampus. The protein may play an important role in the excitatory pathway of synaptic transmission, which is known to be implicated in several neurologic diseases. </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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<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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<span class="mim-text-font">
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<p>Vardar et al. (2020) noted that human STX1B contains an N-terminal H(abc) domain formed by 3 helices, H(a), H(b), and H(c), followed by the SNARE domain and a transmembrane region. </p>
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</span>
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<div>
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<br />
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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>Smirnova et al. (1996) mapped the human STX1B gene to 16p11.2 by fluorescence in situ hybridization. The gene was found at a single locus. Chromosome rearrangements with breaks in 16p11 are observed in myxoid liposarcoma and in acute myeloid leukemia. </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>Smirnova et al. (1996) noted that a tumor that displays neuroendocrine properties, small cell lung cancer (182280), has been observed in about 60% of patients with Lambert-Eaton myasthenic syndrome, an autoimmune disease of neurotransmission that is characterized by muscle weakness (Vincent et al., 1989). Autoantibodies from these patients recognize the presynaptic N-type calcium channel and synaptotagmin (185605), 2 proteins that are involved in synaptic transmission and interact with syntaxin. </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>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>In affected members of the families with generalized epilepsy with febrile seizures plus-9 (GEFSP9; 616172) reported by Lerche et al. (2001) and Weber et al. (2008), Schubert et al. (2014) identified different heterozygous truncating mutations in the STX1B gene (601485.0001 and 601485.0002, respectively). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families. Sequencing of this gene in 3 additional cohorts of patients with seizures identified a mutation in 1 of 299 probands with febrile seizures or epileptic encephalopathies; in 1 of 81 adults with various forms of epilepsy and intellectual disability; and in 1 of 68 patients with epileptic encephalopathies. Schubert et al. (2014) noted the wide phenotypic spectrum of epilepsy associated with STX1B mutations, ranging from incomplete penetrance without symptoms to simple febrile seizures to severe epileptic encephalopathies. The findings implicated the STX1B gene and the presynaptic release machinery in fever-associated epilepsy syndromes. </p><p><strong><em>Functional Studies of STX1B Mutations</em></strong></p><p>
|
|
By rescue analysis in Stx1-/- mouse hippocampal neurons, Vardar et al. (2020) showed that the STX1B indel mutation (601485.0002) compromised general STX1B function in neuronal survival, whereas the STX1B gly226-to-arg (G226R; 601485.0005) and val216-to-glu (V216E; 601485.0004) did not. The indel mutation, which is within the first helix of the H(abc) domain, interfered with proper STX1B folding and destabilized the protein, although the mutant protein was able to form functional SNARE complexes. The G226R and V216E mutants could also form stable SNARE complexes, but they showed altered interaction with Munc18-1 (602926), which differentially affected their neurotransmission. Synaptic transmission was unaltered in Stx1b +/- mouse neurons exogenously expressing any of the 3 mutants. </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>Schubert et al. (2014) found that morpholino knockout of the stx1b gene in zebrafish resulted in abnormal episodic behavior, including repetitive fin fluttering, increased orofacial movements, and myoclonus-like jerks, as well as abnormal spontaneous epileptiform brain activity with polyspiking discharges and high-frequency oscillations. Elevation of temperature increased the occurrence of epileptiform events, specifically high-frequency oscillations. </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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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</strong>
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<p />
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<span class="mim-font">
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<strong>.0001 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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STX1B, GLN56TER
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<br />
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SNP: rs724159973,
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ClinVar: RCV000149790
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<p>In affected members of a large 5-generation German family with generalized epilepsy with febrile seizures plus-9 (GEFSP9; 616172), originally reported by Lerche et al. (2001), Schubert et al. (2014) identified a heterozygous c.166C-T transition in the STX1B gene, resulting in a gln56-to-ter (Q56X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP (build 135), 1000 Genomes Project, or Exome Variant Server databases, or in 188 German controls. One unaffected family member also carried the mutation, consistent with incomplete penetrance. </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>.0002 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9</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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STX1B, INS/DEL, NT133 AND LEU46MET
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<br />
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SNP: rs1114167275,
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ClinVar: RCV000149791
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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 4-generation German family with GEFSP9 (616172), originally reported by Weber et al. (2008), Schubert et al. (2014) identified a heterozygous complex insertion/deletion mutation in the STX1B gene (c.133_134insGGATGTGCATTG, resulting in Lys45delinsArgMetCysIleGlu, and c.135_136AC-GA, resulting in a leu46-to-met (L46M) substitution). The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. It was not found in the dbSNP (build 135), 1000 Genomes Project, or Exome Variant Server databases, or in 188 German controls. Two unaffected family members carried the mutation, consistent with incomplete penetrance. </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 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9</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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STX1B, SER47TER
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<br />
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SNP: rs200979563,
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gnomAD: rs200979563,
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ClinVar: RCV000149792, RCV001374902
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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 Dutch patient with GEFSP9 (616172), Schubert et al. (2014) identified a heterozygous c.140C-A transversion in the STX1B gene, resulting in a ser47-to-ter (S47X) substitution. The mutation was not present in the patient's unaffected father, but maternal DNA was not available. The patient was ascertained from a cohort of 299 unrelated probands with epilepsies who were tested for STX1B mutations. </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 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9</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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STX1B, VAL216GLU
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<br />
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SNP: rs724159974,
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ClinVar: RCV000149793
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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 an adult Swiss patient with GEFSP9 (616172), Schubert et al. (2014) identified a heterozygous c.657T-A transversion in the STX1B gene, resulting in a val216-to-glu (V216E) substitution at a highly conserved residue in the SNARE motif. Parental DNA was not available. The patient was ascertained from a cohort of 81 adults with various forms of epilepsy and intellectual disability. The V216E variant was unable to rescue the seizure phenotype of zebrafish with morpholino knockdown of stx1b, indicating that the mutation results in a loss of function. The patient had onset of seizures at age 3.5 years, and showed speech delay, moderate intellectual disability, ataxia, and cerebellar atrophy. </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>.0005 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9</strong>
|
|
</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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STX1B, GLY226ARG
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<br />
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SNP: rs727502806,
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ClinVar: RCV000149794
|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a German patient with a severe form of GEFSP9 (616172) manifest as myoclonic-astatic epilepsy, Schubert et al. (2014) identified a de novo heterozygous c.676G-C transversion in the STX1B gene, resulting in a gly226-to-arg (G226R) substitution at a highly conserved residue in the SNARE motif. The patient was ascertained from a larger cohort of 68 patients with epileptic encephalopathy. Functional studies of the variant were not performed. </p>
|
|
</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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<h4>
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<span class="mim-font">
|
|
<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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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Lerche, H., Weber, Y. G., Baier, H., Jurkat-Rott, K., Kraus de Camargo, O., Ludolph, A. C., Bode, H., Lehmann-Horn, F.
|
|
<strong>Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.</strong>
|
|
Neurology 57: 1191-1198, 2001.
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[PubMed: 11591834]
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[Full Text: https://doi.org/10.1212/wnl.57.7.1191]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others.
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|
<strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong>
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Nature Genet. 46: 1327-1332, 2014.
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[PubMed: 25362483]
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[Full Text: https://doi.org/10.1038/ng.3130]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Smirnova, T., Miniou, P., Viegas-Pequignot, E., Mallet, J.
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<strong>Assignment of the human syntaxin 1B gene (STX) to chromosome 16p11.2 by fluorescence in situ hybridization.</strong>
|
|
Genomics 36: 551-553, 1996.
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[PubMed: 8884284]
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[Full Text: https://doi.org/10.1006/geno.1996.0506]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Smirnova, T., Stinnakre, J., Mallet, J.
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<strong>Characterization of a presynaptic glutamate receptor.</strong>
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Science 262: 430-433, 1993.
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[PubMed: 8105537]
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[Full Text: https://doi.org/10.1126/science.8105537]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Vardar, G., Gerth, F., Schmitt, X. J., Rautenstrauch, P., Trimbuch, T., Schubert, J., Lerche, H., Rosenmund, C., Freund, C.
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|
<strong>Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.</strong>
|
|
Brain 143: 2119-2138, 2020.
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[PubMed: 32572454]
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[Full Text: https://doi.org/10.1093/brain/awaa151]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Vincent, A., Lang, B., Newsom-Davis, J.
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<strong>Autoimmunity to the voltage-gated calcium channel underlies the Lambert-Eaton myasthenic syndrome, a paraneoplastic disorder.</strong>
|
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Trends Neurosci. 12: 496-502, 1989.
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[PubMed: 2480664]
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[Full Text: https://doi.org/10.1016/0166-2236(89)90109-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Weber, Y. G., Jacob, M., Weber, G., Lerche, H.
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<strong>A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</strong>
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Epilepsia 49: 1959-1964, 2008.
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[PubMed: 18479394]
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[Full Text: https://doi.org/10.1111/j.1528-1167.2008.01646.x]
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</p>
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</ol>
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<div>
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<br />
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<span class="mim-text-font">
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Bao Lige - updated : 06/06/2023<br>Cassandra L. Kniffin - updated : 1/8/2015
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<span class="mim-text-font">
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Victor A. McKusick : 10/25/1996
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mgross : 06/06/2023<br>carol : 03/17/2015<br>carol : 1/9/2015<br>carol : 1/9/2015<br>mcolton : 1/8/2015<br>ckniffin : 1/8/2015<br>alopez : 11/29/2010<br>ckniffin : 1/25/2005<br>carol : 8/13/2001<br>dkim : 7/24/1998<br>alopez : 6/27/1997<br>mark : 10/25/1996
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