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Entry
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- *600235 - SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 1; SCN1B
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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">*600235</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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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/600235">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 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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</li>
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</ul>
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</nav>
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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=ENSG00000105711;t=ENST00000262631" 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=6324" 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=600235" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000105711;t=ENST00000262631" 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_001037,NM_001321605,NM_199037" 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_001037" 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=600235" 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=02581&isoform_id=02581_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/SCN1B" 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/307415,450603,1162927,1705868,2804300,4506805,38607338,39930610,40225909,45501065,54696708,86577756,146048284,189053831,194380502,1011750888" 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/Q07699" 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=6324" 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=ENSG00000105711;t=ENST00000262631" 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=SCN1B" 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=SCN1B" 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+6324" 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/SCN1B" 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:6324" 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/6324" 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=chr19&hgg_gene=ENST00000262631.11&hgg_start=35030470&hgg_end=35040449&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10586" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:10586" 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=600235[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=600235[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/SCN1B/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/ENSG00000105711" 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.gwascentral.org/search?q=SCN1B" 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=SCN1B" 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=SCN1B&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/PA302" 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:10586" 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://www.mousephenotype.org/data/genes/MGI:98247" 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/SCN1B#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:98247" 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/6324/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=6324" 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://zfin.org/ZDB-GENE-060503-604" 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:6324" 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=SCN1B&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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600235
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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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SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 1; SCN1B
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT; SCN1B
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SCN1B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SCN1B</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>
|
|
Cytogenetic location: <a href="/geneMap/19/567?start=-3&limit=10&highlight=567">19q13.11</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:35030470-35040449&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'})">19:35,030,470-35,040,449</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">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
|
<div>
|
|
<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>
|
|
Phenotype
|
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=615377,612838,612838,617350,604233" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
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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="5">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/567?start=-3&limit=10&highlight=567">
|
|
19q13.11
|
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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">
|
|
Atrial fibrillation, familial, 13
|
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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/615377"> 615377 </a>
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<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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<tr>
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<td>
|
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<span class="mim-font">
|
|
Brugada syndrome 5
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612838"> 612838 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<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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|
|
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cardiac conduction defect, nonspecific
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612838"> 612838 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
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</span>
|
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</td>
|
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</tr>
|
|
|
|
|
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Developmental and epileptic encephalopathy 52
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617350"> 617350 </a>
|
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|
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</span>
|
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</td>
|
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<td>
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<p>The SCN1B gene encodes a beta-1 subunit of voltage-gated sodium channels. Voltage-gated sodium channels are multimeric protein complexes essential for action potential generation in excitable cells, including neurons, and consist of a central pore-forming alpha-subunit and 2 beta-subunits. Sodium channel beta-1 subunits modulate channel voltage-dependence and gating, cell surface expression of the channel, and cell-cell and cell-matrix adhesion (summary by <a href="#10" class="mim-tip-reference" title="Patino, G. A., Claes, L. R. F., Lopez-Santiago, L. F., Slat, E. A., Dondeti, R. S. R., Chen, C., O'Malley, H. A., Gray, C. B. B., Miyazaki, H., Nukina, N., Oyama, F., De Jonghe, P., Isom, L. L. <strong>A functional null mutation of SCN1B in a patient with Dravet syndrome.</strong> J. Neurosci. 29: 10764-10778, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19710327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19710327</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19710327[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.2475-09.2009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19710327">Patino et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19710327" 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>By PCR of human brain RNA using sequences from rat Scn1b, followed by screening a human frontal cortex cDNA library, <a href="#6" class="mim-tip-reference" title="McClatchey, A. I., Cannon, S. C., Slaugenhaupt, S. A., Gusella, J. F. <strong>The cloning and expression of a sodium channel beta-1-subunit cDNA from human brain.</strong> Hum. Molec. Genet. 2: 745-749, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8394762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8394762</a>] [<a href="https://doi.org/10.1093/hmg/2.6.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8394762">McClatchey et al. (1993)</a> cloned SCN1B. The C-terminal half of the deduced 218-amino acid protein contains a transmembrane domain. Rat and human SCN1B share 98% amino acid identity. Northern blot analysis detected abundant expression of a 1.5-kb transcript in several human brain regions, including brainstem and cerebellum. Expression was also detected in human skeletal muscle and heart and in rat myoblasts, but not in human liver. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8394762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By in situ hybridization of rat brain, <a href="#7" class="mim-tip-reference" title="Morgan, K., Stevens, E. B., Shah, B., Cox, P. J., Dixon, A. K., Lee, K., Pinnock, R. D., Hughes, J., Richardson, P. J., Mizuguchi, K., Jackson, A. P. <strong>Beta-3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics.</strong> Proc. Nat. Acad. Sci. 97: 2308-2313, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10688874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10688874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10688874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.030362197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10688874">Morgan et al. (2000)</a> detected highest expression of Scn1b in cerebellum and hippocampus. In most areas, expression of Scn1b complemented the expression of Scn3b (<a href="/entry/608214">608214</a>). The exception was hippocampus, where both subunits were expressed at high levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10688874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Qin, N., D'Andrea, M. R., Lubin, M.-L., Shafaee, N., Codd, E. E., Correa, A. M. <strong>Molecular cloning and functional expression of the human sodium channel beta-1B subunit, a novel splicing variant of the beta-1 subunit.</strong> Europ. J. Biochem. 270: 4762-4770, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14622265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14622265</a>] [<a href="https://doi.org/10.1046/j.1432-1033.2003.03878.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14622265">Qin et al. (2003)</a> identified a splice variant of SCN1B that they designated beta-1B. The deduced 268-amino acid beta-1B protein has a calculated molecular mass of 30.4 kD. The N-terminal 149 amino acids are identical between beta-1B and the previously identified 218-amino acid beta-1 subunit, but their C-terminal sequences share only 17% amino acid identity. Northern blot analysis detected high expression of a 7.5-kb beta-1B transcript in brain and skeletal muscle, and much lower levels in heart, placenta, lung, liver, kidney, and pancreas. Within specific brain regions, expression was highest in cerebellum, followed by cerebral cortex and occipital lobe. Skeletal muscle expressed a second transcript of about 1.5 kb. Immunohistochemical analysis detected beta-1B in many regions of the human brain, including cerebellar Purkinje cells, cortical pyramidal neurons, and neuronal fibers throughout the brain. Strong labeling was detected in human dorsal root ganglion, spinal nerve fibers, and cortical neurons and their processes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14622265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R. <strong>Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.</strong> J. Clin. Invest. 118: 2260-2268, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18464934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18464934</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18464934[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI33891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18464934">Watanabe et al. (2008)</a> performed quantitative real-time PCR in nondiseased human heart and detected beta-1 and beta-1B transcripts in the right and left ventricles, with even higher transcript levels of both in the Purkinje (conduction) fibers: 1.6- and 2.4-fold higher for beta-1, and 3.7- and 4.8-fold higher for beta-1B, compared to the right and left ventricles, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18464934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In nondiseased human heart tissue, <a href="#17" class="mim-tip-reference" title="Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M. <strong>Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation.</strong> Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808477</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808477[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1161/CIRCEP.108.779181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19808477">Watanabe et al. (2009)</a> observed expression of SCN1B transcript in both atrium and ventricle, with greater abundance in the ventricle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By quantitative PCR analysis, <a href="#9" class="mim-tip-reference" title="Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H. <strong>Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.</strong> Cardiovasc. Res. 89: 786-793, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21051419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21051419</a>] [<a href="https://doi.org/10.1093/cvr/cvq348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21051419">Olesen et al. (2011)</a> demonstrated expression of SCN1B in human atria and ventricles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21051419" 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>By screening rodent-human hybrid cell lines, <a href="#6" class="mim-tip-reference" title="McClatchey, A. I., Cannon, S. C., Slaugenhaupt, S. A., Gusella, J. F. <strong>The cloning and expression of a sodium channel beta-1-subunit cDNA from human brain.</strong> Hum. Molec. Genet. 2: 745-749, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8394762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8394762</a>] [<a href="https://doi.org/10.1093/hmg/2.6.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8394762">McClatchey et al. (1993)</a> mapped the SCN1B gene to chromosome 19. Using a 15.9-kb genomic SCN1B clone, <a href="#5" class="mim-tip-reference" title="Makita, N., Sloan-Brown, K., Weghuis, D. O., Ropers, H. H., George, A. L., Jr. <strong>Genomic organization and chromosomal assignment of the human voltage-gated Na(+) channel beta-1 subunit gene (SCN1B).</strong> Genomics 23: 628-634, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7851891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7851891</a>] [<a href="https://doi.org/10.1006/geno.1994.1551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7851891">Makita et al. (1994)</a> assigned the gene to 19q13.1-q13.2 by fluorescence in situ hybridization. They found an intragenic polymorphic (TTA)n repeat positioned between 2 tandem Alu repetitive sequences. <a href="#5" class="mim-tip-reference" title="Makita, N., Sloan-Brown, K., Weghuis, D. O., Ropers, H. H., George, A. L., Jr. <strong>Genomic organization and chromosomal assignment of the human voltage-gated Na(+) channel beta-1 subunit gene (SCN1B).</strong> Genomics 23: 628-634, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7851891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7851891</a>] [<a href="https://doi.org/10.1006/geno.1994.1551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7851891">Makita et al. (1994)</a> suggested that this polymorphism could be useful in evaluating SCN1B as a candidate gene for hereditary disorders affecting membrane excitability. Three voltage-gated potassium channels had been mapped to chromosome 19: KCNA7 (<a href="/entry/176268">176268</a>), KCNC2 (<a href="/entry/176256">176256</a>), and KCNC3 (<a href="/entry/176264">176264</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8394762+7851891" 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="Makita, N., Sloan-Brown, K., Weghuis, D. O., Ropers, H. H., George, A. L., Jr. <strong>Genomic organization and chromosomal assignment of the human voltage-gated Na(+) channel beta-1 subunit gene (SCN1B).</strong> Genomics 23: 628-634, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7851891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7851891</a>] [<a href="https://doi.org/10.1006/geno.1994.1551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7851891">Makita et al. (1994)</a> analyzed the structure of the SCN1B gene. A complete coding region was found in approximately 9.0 kb of genomic DNA and comprised 5 exons, ranging in size from 72 to 749 bp, and 4 introns, ranging in size from 90 bp to 5.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7851891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Qin, N., D'Andrea, M. R., Lubin, M.-L., Shafaee, N., Codd, E. E., Correa, A. M. <strong>Molecular cloning and functional expression of the human sodium channel beta-1B subunit, a novel splicing variant of the beta-1 subunit.</strong> Europ. J. Biochem. 270: 4762-4770, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14622265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14622265</a>] [<a href="https://doi.org/10.1046/j.1432-1033.2003.03878.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14622265">Qin et al. (2003)</a> determined that the SCN1B gene contains 6 alternatively spliced exons and spans about 9 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14622265" 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="#6" class="mim-tip-reference" title="McClatchey, A. I., Cannon, S. C., Slaugenhaupt, S. A., Gusella, J. F. <strong>The cloning and expression of a sodium channel beta-1-subunit cDNA from human brain.</strong> Hum. Molec. Genet. 2: 745-749, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8394762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8394762</a>] [<a href="https://doi.org/10.1093/hmg/2.6.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8394762">McClatchey et al. (1993)</a> found that coexpression of the human beta-1 subunit and the rat muscle alpha subunit (SCN4A; <a href="/entry/603967">603967</a>) in Xenopus oocytes accelerated the inactivation of the sodium current 5-fold and shifted the point of half-maximal inactivation 10 mV in the hyperpolarizing direction compared with oocytes expressing the alpha subunit alone. The rate of the voltage dependence of inactivation was not affected. Beta-1 increased the peak amplitude of the sodium current an average of 2-fold, but the variability was quite large. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8394762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Tammaro, P., Conti, F., Moran, O. <strong>Modulation of sodium current in mammalian cells by an epilepsy-correlated beta-1-subunit mutation.</strong> Biochem. Biophys. Res. Commun. 291: 1095-1101, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11866477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11866477</a>] [<a href="https://doi.org/10.1006/bbrc.2002.6570" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11866477">Tammaro et al. (2002)</a> expressed the rat beta-1 subunit in human embryonic kidney cells stably expressing the rat alpha subunit (SCN4A). They found that beta-1 increased the density of sodium channels on the cell surface and modulated the inactivation of the sodium current, hastening recovery from inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11866477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By functional expression of rat Scn3b or Scn1b with rat Scn2a1 (<a href="/entry/182390">182390</a>) in Xenopus oocytes, <a href="#7" class="mim-tip-reference" title="Morgan, K., Stevens, E. B., Shah, B., Cox, P. J., Dixon, A. K., Lee, K., Pinnock, R. D., Hughes, J., Richardson, P. J., Mizuguchi, K., Jackson, A. P. <strong>Beta-3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics.</strong> Proc. Nat. Acad. Sci. 97: 2308-2313, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10688874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10688874</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10688874[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.030362197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10688874">Morgan et al. (2000)</a> determined that both Scn3b and Scn1b caused a hyperpolarizing shift in the voltage-dependence of inactivation and modulated the alpha subunit by increasing the fraction of channels operating in the fast-gating mode. The kinetics were distinct, with Scn1b inactivating channel opening more quickly than Scn3b. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10688874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Qin, N., D'Andrea, M. R., Lubin, M.-L., Shafaee, N., Codd, E. E., Correa, A. M. <strong>Molecular cloning and functional expression of the human sodium channel beta-1B subunit, a novel splicing variant of the beta-1 subunit.</strong> Europ. J. Biochem. 270: 4762-4770, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14622265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14622265</a>] [<a href="https://doi.org/10.1046/j.1432-1033.2003.03878.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14622265">Qin et al. (2003)</a> found that coexpression of the human beta-1B variant with Nav1.2 (SCN2A; <a href="/entry/182390">182390</a>) in Xenopus oocytes increased the ionic current over that obtained with Nav1.2 alone. There were no significant changes in voltage-dependent kinetics or steady-state properties of the channel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14622265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Generalized Epilepsy With Febrile Seizures Plus, Type 1</em></strong></p><p>
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In affected members of a large multigenerational family from Tasmania with generalized epilepsy with febrile seizures plus-1 (GEFSP1; <a href="/entry/604233">604233</a>) reported by <a href="#13" class="mim-tip-reference" title="Singh, R., Scheffer, I. E., Crossland, K., Berkovic, S. F. <strong>Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome.</strong> Ann. Neurol. 45: 75-81, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9894880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9894880</a>] [<a href="https://doi.org/10.1002/1531-8249(199901)45:1<75::aid-art13>3.0.co;2-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9894880">Singh et al. (1999)</a>, <a href="#16" class="mim-tip-reference" title="Wallace, R. H., Wang, D. W., Singh, R., Scheffer, I. E., George, A. L., Jr., Phillips, H. A., Saar, K., Reis, A., Johnson, E. W., Sutherland, G. R., Berkovic, S. F., Mulley, J. C. <strong>Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B.</strong> Nature Genet. 19: 366-370, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9697698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9697698</a>] [<a href="https://doi.org/10.1038/1252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9697698">Wallace et al. (1998)</a> identified a heterozygous missense mutation in the SCN1B gene (C121W; <a href="#0001">600235.0001</a>). The mutation segregated with the disorder in the family, although there was phenotypic variability. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9894880+9697698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Grinton, B. E., Robertson, E., Fearnley, L. G., Scheffer, I. E., Marson, A. G., O'Brien, T. J., Pickrell, W. O., Rees, M. I., Sisodiya, S. M., Balding, D. J., Bennett, M. F., Bahlo, M., Berkovic, S. F., Oliver, K. L. <strong>A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.</strong> Am. J. Hum. Genet. 109: 2080-2087, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36288729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36288729</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.10.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36288729">Grinton et al. (2022)</a> examined 14 unrelated families from Australia, the United Kingdom, and the United States with GEFS+, all with the same heterozygous mutation in the SCN1B gene (C121W; <a href="#0001">600235.0001</a>). The authors identified a core ancestral haplotype spanning about 260 kb that was shared by all 14 families. The age of the most recent common ancestor of these families was estimated at 31.2 generations or about 800 years earlier. The penetrance of this variant in these multigenerational families was about 70%. Analysis of UK Biobank whole-exome sequencing data identified the heterozygous variant in 74 (0.039%) unrelated persons. Most of these carriers (89%) shared the full core ancestral haplotype, while the others shared smaller regions of the core haplotype. All 74 shared segments of the extended haplotype outside the core haplotype region. The variant was seen 14 times more often in the European cohort of the UK Biobank than in the gnomAD database, supporting the variant being of British origin. The authors concluded that variants that are present in the population at low frequencies should be considered as potentially pathogenic when the phenotype is mild and incompletely penetrant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36288729" 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>Brugada Syndrome 5 and Cardiac Conduction Defects</em></strong></p><p>
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<a href="#18" class="mim-tip-reference" title="Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R. <strong>Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.</strong> J. Clin. Invest. 118: 2260-2268, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18464934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18464934</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18464934[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI33891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18464934">Watanabe et al. (2008)</a> analyzed the SCN1B gene in 282 probands with Brugada syndrome and 44 patients with conduction disease (see BRGDA5, <a href="/entry/612838">612838</a>), all of whom were negative for mutation in the SCN5A gene, and identified 3 mutations in 3 kindreds, 1 French, 1 Turkish, and 1 Dutch (<a href="#0003">600235.0003</a>, <a href="#0004">600235.0004</a>, and <a href="#0005">600235.0005</a>, respectively), that segregated with disease and were not found in 1,404 population controls. None of the mutation-positive families had a history of epilepsy. Two of the mutations were located in the alternately processed beta-1B transcript; functional studies demonstrated a lower sodium current when Na(v)1.5 was coexpressed with mutant beta-1 or beta-1B subunits than with wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18464934" 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>Familial Atrial Fibrillation 13</em></strong></p><p>
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<a href="#17" class="mim-tip-reference" title="Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M. <strong>Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation.</strong> Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808477</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808477[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1161/CIRCEP.108.779181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19808477">Watanabe et al. (2009)</a> screened the 4 genes encoding sodium channel beta subunits, SCN1B, SCN2B (<a href="/entry/601327">601327</a>), SCN3B (<a href="/entry/608214">608214</a>), and SCN4B (<a href="/entry/608256">608256</a>), in 480 patients with atrial fibrillation (AF), including 118 patients with lone AF and 362 patients with AF and other cardiovascular disease. They identified 2 unrelated female patients, 1 with AF and aortic stenosis and 1 with lone AF (ATFB13; <a href="/entry/615377">615377</a>), who had heterozygous missense mutations in the SCN1B gene, R85H (<a href="#0006">600235.0006</a>) and D153N (<a href="#0007">600235.0007</a>), respectively. Sequencing of the SCN5A gene in the 2 women revealed no mutations, and the SCN1B variants were not found in a total of 638 controls. Another 2 AF patients were found to have mutations in the SCN2B gene (<a href="/entry/601327#0001">601327.0001</a> and <a href="/entry/601327#0002">601327.0002</a>; see ATFB14, <a href="/entry/615378">615378</a>), but no disease-causing variants were identified in SCN3B or SCN4B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808477" 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>Developmental and Epileptic Encephalopathy 52</em></strong></p><p>
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In a male infant, born of consanguineous Moroccan parents, with developmental and epileptic encephalopathy-52 (DEE52; <a href="/entry/617350">617350</a>), <a href="#10" class="mim-tip-reference" title="Patino, G. A., Claes, L. R. F., Lopez-Santiago, L. F., Slat, E. A., Dondeti, R. S. R., Chen, C., O'Malley, H. A., Gray, C. B. B., Miyazaki, H., Nukina, N., Oyama, F., De Jonghe, P., Isom, L. L. <strong>A functional null mutation of SCN1B in a patient with Dravet syndrome.</strong> J. Neurosci. 29: 10764-10778, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19710327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19710327</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19710327[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.2475-09.2009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19710327">Patino et al. (2009)</a> identified a homozygous missense mutation in the SCN1B gene (R125C; <a href="#0008">600235.0008</a>). In vitro functional cellular expression studies showed that the mutant protein was poorly expressed at the cell surface, despite robust intracellular expression, consistent with a trafficking defect to the membrane. The inefficient trafficking of the mutant protein to the cell membrane at physiologic temperatures resulted in a functionally null SCN1B phenotype. The parents, who were heterozygous for the mutation, did not have seizures, suggesting that one functional SCN1B allele is sufficient for normal control of electrical excitability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19710327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 25-year-old Japanese man with DEE52, who was born of unrelated parents, <a href="#8" class="mim-tip-reference" title="Ogiwara, I., Nakayama, T., Yamagata, T., Ohtani, H., Mazaki, E., Tsuchiya, S., Inoue, Y., Yamakawa, K. <strong>A homozygous mutation of voltage-gated sodium channel beta-1 gene SCN1B in a patient with Dravet syndrome.</strong> Epilepsia 53: e200-e203, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23148524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23148524</a>] [<a href="https://doi.org/10.1111/epi.12040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23148524">Ogiwara et al. (2012)</a> identified a homozygous missense mutation in the SCN1B gene (I106F; <a href="#0009">600235.0009</a>). Functional studies of the variant and studies of patient cells were not performed. However, <a href="#8" class="mim-tip-reference" title="Ogiwara, I., Nakayama, T., Yamagata, T., Ohtani, H., Mazaki, E., Tsuchiya, S., Inoue, Y., Yamakawa, K. <strong>A homozygous mutation of voltage-gated sodium channel beta-1 gene SCN1B in a patient with Dravet syndrome.</strong> Epilepsia 53: e200-e203, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23148524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23148524</a>] [<a href="https://doi.org/10.1111/epi.12040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23148524">Ogiwara et al. (2012)</a> noted that the domain of the protein affected by the mutation mediates interaction with cellular adhesion molecules. The patient was part of a cohort of 67 individuals with early-onset seizures without mutations in the SCN1A (<a href="/entry/182389">182389</a>) or SCN2A (<a href="/entry/182390">182390</a>) genes who underwent mutation analysis of the SCN1B gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23148524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Kim, Y. O., Dibbens, L., Marini, C., Suis, A., Chemaly, N., Mei, D., McMahon, J. M., Iona, X., Berkovic, S. F., De Jonghe, P., Guerrini, R., Nabbout, R., Scheffer, I. E. <strong>Do mutations in SCN1B cause Dravet syndrome?</strong> Epilepsy Res. 103: 97-100, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23182416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23182416</a>] [<a href="https://doi.org/10.1016/j.eplepsyres.2012.10.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23182416">Kim et al. (2013)</a> did not find any pathogenic mutations in the SCN1B gene among 54 patients with early-infantile epileptic encephalopathy in whom SCN1A mutations had been excluded, suggesting that SCN1B mutations are not a common cause of that phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23182416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 3 unrelated Saudi families with DEE52, <a href="#12" class="mim-tip-reference" title="Ramadan, W., Patel, N., Anazi, S., Kentab, A. Y., Bashiri, F. A., Hamad, M. H., Jad, L., Salih, M. A., Alsaif, H., Hashem, M., Faqeih, E., Shamseddin, H. E., Alkuraya, F. S. <strong>Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.</strong> Clin. Genet. 92: 327-331, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28218389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28218389</a>] [<a href="https://doi.org/10.1111/cge.12999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28218389">Ramadan et al. (2017)</a> identified homozygous mutations in the SCN1B gene: the same splicing mutation (<a href="#0010">600235.0010</a>) in 2 families, and a missense mutation (Y119D; <a href="#0011">600235.0011</a>) in the third family. The mutations, which were found by sequencing of a multigene epilepsy panel and confirmed by Sanger sequencing, segregated with the disorder in the families and were not found in the ExAC database. No functional studies were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28218389" 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="Chen, C., Westenbroek, R. E., Xu, X., Edwards, C. A., Sorenson, D. R., Chen, Y., McEwen, D. P., O'Malley, H. A., Bharucha, V., Meadows, L. S., Knudsen, G. A., Vilaythong, A., Noebels, J. L., Saunders, T. L., Scheuer, T., Shrager, P., Catterall, W. A., Isom, L. L. <strong>Mice lacking sodium channel beta-1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture.</strong> J. Neurosci. 24: 4030-4042, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15102918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15102918</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15102918[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.4139-03.2004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15102918">Chen et al. (2004)</a> produced beta-1-null mice by gene targeting. Knockout mice exhibited ataxic gait, spontaneous seizures, growth retardation, and death around postnatal day 20. They showed slowing of action potential conduction, reduced number of mature nodes of Ranvier, alterations in nodal architecture, loss of sodium channel-contactin (see CNTN1; <a href="/entry/600016">600016</a>) interactions, and abnormalities in the expression of Nav1.1 (SCN1A; <a href="/entry/182389">182389</a>) and Nav1.3 (SCN3A; <a href="/entry/182391">182391</a>) in pyramidal neurons CA2/CA3. Mutant mice had impacted esophagi, possibly attributable to enteric nervous system impairment. <a href="#2" class="mim-tip-reference" title="Chen, C., Westenbroek, R. E., Xu, X., Edwards, C. A., Sorenson, D. R., Chen, Y., McEwen, D. P., O'Malley, H. A., Bharucha, V., Meadows, L. S., Knudsen, G. A., Vilaythong, A., Noebels, J. L., Saunders, T. L., Scheuer, T., Shrager, P., Catterall, W. A., Isom, L. L. <strong>Mice lacking sodium channel beta-1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture.</strong> J. Neurosci. 24: 4030-4042, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15102918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15102918</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15102918[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.4139-03.2004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15102918">Chen et al. (2004)</a> concluded that beta-1 regulates sodium channel density and localization, is involved in axo-glial communication at nodes of Ranvier, and is required for normal action potential conduction and control of excitability in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15102918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Patino, G. A., Claes, L. R. F., Lopez-Santiago, L. F., Slat, E. A., Dondeti, R. S. R., Chen, C., O'Malley, H. A., Gray, C. B. B., Miyazaki, H., Nukina, N., Oyama, F., De Jonghe, P., Isom, L. L. <strong>A functional null mutation of SCN1B in a patient with Dravet syndrome.</strong> J. Neurosci. 29: 10764-10778, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19710327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19710327</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19710327[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.2475-09.2009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19710327">Patino et al. (2009)</a> found that heterozygous Scn1b +/- mice did not have increased susceptibility to seizures. Electrophysiologic studies of hippocampal slices from Scn1b-null mice showed increased peak voltage of action potentials and amplitude of action potentials in CA3 neurons, consistent with neuronal hyperexcitability, but not in CA1 neurons. Changes in sodium current density were not observed in dissociated CA3 bipolar neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19710327" 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 family, most of them living in the Australian state of Tasmania (<a href="#13" class="mim-tip-reference" title="Singh, R., Scheffer, I. E., Crossland, K., Berkovic, S. F. <strong>Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome.</strong> Ann. Neurol. 45: 75-81, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9894880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9894880</a>] [<a href="https://doi.org/10.1002/1531-8249(199901)45:1<75::aid-art13>3.0.co;2-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9894880">Singh et al., 1999</a>), with generalized epilepsy with febrile seizures plus-1 (GEFSP1; <a href="/entry/604233">604233</a>), <a href="#16" class="mim-tip-reference" title="Wallace, R. H., Wang, D. W., Singh, R., Scheffer, I. E., George, A. L., Jr., Phillips, H. A., Saar, K., Reis, A., Johnson, E. W., Sutherland, G. R., Berkovic, S. F., Mulley, J. C. <strong>Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B.</strong> Nature Genet. 19: 366-370, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9697698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9697698</a>] [<a href="https://doi.org/10.1038/1252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9697698">Wallace et al. (1998)</a> identified a heterozygous c.387C-G transversion in the SCN11B gene, resulting in a cys121-to-trp (C121W) substitution. The substitution occurred at a conserved residue in the putative disulfide bridge that normally maintains an extracellular immunoglobulin-like fold. Coexpression of mutant beta-1 subunit with a brain sodium channel alpha subunit in Xenopus laevis oocytes demonstrated that the mutation interferes with the ability of the subunit to modulate channel-gating kinetics consistent with a loss-of-function allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9894880+9697698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Tammaro, P., Conti, F., Moran, O. <strong>Modulation of sodium current in mammalian cells by an epilepsy-correlated beta-1-subunit mutation.</strong> Biochem. Biophys. Res. Commun. 291: 1095-1101, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11866477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11866477</a>] [<a href="https://doi.org/10.1006/bbrc.2002.6570" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11866477">Tammaro et al. (2002)</a> expressed wildtype rat beta-1 or mutant rat beta-1 with the C121W substitution in human embryonic kidney cells stably expressing the rat alpha subunit (SCN4A; <a href="/entry/603967">603967</a>). Wildtype beta-1 increased the density of sodium channels on the cell surface and modulated the inactivation of the sodium current, hastening recovery from inactivation. In contrast, beta-1 with C121W lacked the ability to modulate sodium currents, but it maintained the ability to increase current density. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11866477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Wallace, R. H., Scheffer, I. E., Parasivam, G., Barnett, S., Wallace, G. B., Sutherland, G. R., Berkovic, S. F., Mulley, J. C. <strong>Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.</strong> Neurology 58: 1426-1429, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12011299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12011299</a>] [<a href="https://doi.org/10.1212/wnl.58.9.1426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12011299">Wallace et al. (2002)</a> identified a second family, from Queensland, Australia, with GEFS+ and the C121W mutation. Of 19 individuals with seizures, 16 had phenotypes within the GEFS+ spectrum. The mutation was present in 13 of 14 individuals with GEFS+ available for testing and in 1 of the 3 individuals with seizures not consistent with the GEFS+ phenotype. Four unaffected members tested also carried the mutation. The penetrance of the mutation in this family was determined to be 76%. A common haplotype was observed in this family and the family reported by <a href="#16" class="mim-tip-reference" title="Wallace, R. H., Wang, D. W., Singh, R., Scheffer, I. E., George, A. L., Jr., Phillips, H. A., Saar, K., Reis, A., Johnson, E. W., Sutherland, G. R., Berkovic, S. F., Mulley, J. C. <strong>Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B.</strong> Nature Genet. 19: 366-370, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9697698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9697698</a>] [<a href="https://doi.org/10.1038/1252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9697698">Wallace et al. (1998)</a>, suggesting a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9697698+12011299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Grinton, B. E., Robertson, E., Fearnley, L. G., Scheffer, I. E., Marson, A. G., O'Brien, T. J., Pickrell, W. O., Rees, M. I., Sisodiya, S. M., Balding, D. J., Bennett, M. F., Bahlo, M., Berkovic, S. F., Oliver, K. L. <strong>A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.</strong> Am. J. Hum. Genet. 109: 2080-2087, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36288729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36288729</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.10.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36288729">Grinton et al. (2022)</a> reported evidence of a single founder event giving rise to this variant in 14 unrelated families with the GEFS+ phenotype, which occurred about 800 years earlier. <a href="#3" class="mim-tip-reference" title="Grinton, B. E., Robertson, E., Fearnley, L. G., Scheffer, I. E., Marson, A. G., O'Brien, T. J., Pickrell, W. O., Rees, M. I., Sisodiya, S. M., Balding, D. J., Bennett, M. F., Bahlo, M., Berkovic, S. F., Oliver, K. L. <strong>A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.</strong> Am. J. Hum. Genet. 109: 2080-2087, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36288729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36288729</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.10.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36288729">Grinton et al. (2022)</a> stated that the nucleotide change in this variant is c.363C-G. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36288729" 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 1</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs724159982 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs724159982;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=rs724159982" 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=rs724159982" 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=RCV000009835" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009835" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009835</a>
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<p>In affected members of a family with generalized epilepsy with febrile seizures plus (GEFSP1; <a href="/entry/604233">604233</a>) inherited in an autosomal dominant pattern with reduced penetrance, <a href="#1" class="mim-tip-reference" title="Audenaert, D., Claes, L., Ceulemans, B., Lofgren, A., Van Broeckhoven, C., De Jonghe, P. <strong>A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.</strong> Neurology 61: 854-856, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14504340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14504340</a>] [<a href="https://doi.org/10.1212/01.wnl.0000080362.55784.1c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14504340">Audenaert et al. (2003)</a> identified a heterozygous A-to-C transversion in the splice acceptor site of exon 3 of the SCN1B gene, resulting in deletion of 5 amino acids within the extracellular immunoglobulin-like fold of the protein. The proband presented at age 17 months with frequent absence seizures that were not provoked by fever. Four other family members with the mutation had febrile seizures or febrile seizures plus. Three members who carried the mutation did not have seizures. <a href="#1" class="mim-tip-reference" title="Audenaert, D., Claes, L., Ceulemans, B., Lofgren, A., Van Broeckhoven, C., De Jonghe, P. <strong>A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.</strong> Neurology 61: 854-856, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14504340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14504340</a>] [<a href="https://doi.org/10.1212/01.wnl.0000080362.55784.1c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14504340">Audenaert et al. (2003)</a> noted the unusual phenotype of the proband with absence seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14504340" 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 BRUGADA SYNDROME 5</strong>
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SCN1B, 536G-A, TRP179TER
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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> rs267607028 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607028;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/rs267607028?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=rs267607028" 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=rs267607028" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000009836 OR RCV000171062 OR RCV004786250" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009836, RCV000171062, RCV004786250" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009836...</a>
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<p>In a 53-year-old French man who presented with chest pain but had normal coronary angiography and echocardiography, in whom electrocardiogram (ECG) revealed ST segment elevation typical of Brugada syndrome (BRGDA5; <a href="/entry/612838">612838</a>), <a href="#18" class="mim-tip-reference" title="Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R. <strong>Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.</strong> J. Clin. Invest. 118: 2260-2268, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18464934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18464934</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18464934[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI33891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18464934">Watanabe et al. (2008)</a> identified heterozygosity for a 536G-A transition in exon 3A of the SCN1B gene, resulting in a trp179-to-ter (W179X) substitution predicted to generate a truncated protein lacking the membrane-spanning segment and intracellular portion. The proband also had conduction abnormalities, including a prolonged PR interval of 220 ms and left anterior hemiblock, and ventricular fibrillation was induced by programmed electrical stimulation in the absence of drugs. The mutation was also found in the proband's brother, who had no history of palpitations or syncope, but on baseline ECG had left anterior hemiblock and minor ST segment elevation suggestive of Brugada syndrome (type II saddleback abnormalities); on flecainide challenge, the ST segment elevation was exacerbated but did not meet the criteria for a diagnostic (type I) pattern. Their sister, who also carried the mutation, had a normal ECG and a negative flecainide test, but her mutation-positive son was found to have right bundle branch block and type II Brugada syndrome after flecainide challenge. There was no family history of tachyarrhythmias, syncope, sudden cardiac death, or epilepsy. The mutation was not found in 1,404 population controls. Functional studies of the W179X mutation, which occurs only in the beta-1B transcript, showed that coexpression of wildtype beta-1B with Na(v)1.5 increased sodium current density by 69%, whereas coexpression with mutant beta-1B did not increase the sodium current compared to Na(v)1.5 alone; there was no evidence of a dominant-negative effect by the mutant. In addition, wildtype beta-1B produced negative shifts in the voltage dependence of Na(v)1.5 activation and inactivation, whereas mutant beta-1B did not modulate Na(v)1.5 gating. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18464934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 CARDIAC CONDUCTION DEFECT, NONSPECIFIC</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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SCN1B, GLU87GLN
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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> rs121434627 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434627;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/rs121434627?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=rs121434627" 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=rs121434627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000009837 OR RCV003332078 OR RCV003988820" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009837, RCV003332078, RCV003988820" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009837...</a>
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</span>
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<span class="mim-text-font">
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<p>In a 50-year-old Turkish woman who presented with palpitations and dizziness and had complete left bundle branch block on electrocardiogram (see <a href="/entry/612838">612838</a>), <a href="#18" class="mim-tip-reference" title="Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R. <strong>Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.</strong> J. Clin. Invest. 118: 2260-2268, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18464934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18464934</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18464934[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI33891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18464934">Watanabe et al. (2008)</a> identified heterozygosity for a 259G-C transversion in exon 3 of the SCN1B gene, resulting in a glu87-to-gln (E87Q) substitution at a highly conserved residue within the extracellular immunoglobulin loop. The proband had a prolonged His-ventricle interval of 80 ms and inducible atrioventricular nodal reentrant tachycardia; complete atrioventricular block occurred following atrial programmed stimulation and during induced tachycardia. The mutation was also identified in her brother, who had bifascicular block (right bundle branch block and left anterior hemiblock), and in their mother, who had a normal electrocardiogram. There was no family history of syncope, sudden cardiac death, or epilepsy. The mutation was not found in 1,404 population controls, including 150 unrelated Turkish individuals. Functional studies of the E87Q mutation, located in a region of the protein common to both the beta-1 and beta-1B transcripts, showed that coexpression of wildtype beta-1 or beta-1B with Na(v)1.5 significantly increased sodium current density (by 76% and 69%, respectively), whereas coexpression with mutant beta-1 or beta-1B did not increase the sodium current compared to Na(v)1.5 alone; coexpression of both wildtype and mutant beta-1 demonstrated a dominant-negative effect by the mutant. In addition, wildtype beta-1 or beta-1B produced negative shifts in the voltage dependence of Na(v)1.5 activation and inactivation, whereas mutant beta-1 or beta-1B shifted only the voltage dependence of inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18464934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0005 CARDIAC CONDUCTION DEFECT, NONSPECIFIC</strong>
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</span>
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</h4>
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SCN1B, 537G-A, TRP179TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607029 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607029;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=rs267607029" 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=rs267607029" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000009838" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000009838" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000009838</a>
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<span class="mim-text-font">
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<p>In a 17-year-old Dutch girl who had right bundle branch block and a prolonged PR interval of 196 ms on electrocardiogram (see <a href="/entry/612838">612838</a>), <a href="#18" class="mim-tip-reference" title="Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R. <strong>Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.</strong> J. Clin. Invest. 118: 2260-2268, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18464934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18464934</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18464934[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI33891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18464934">Watanabe et al. (2008)</a> identified heterozygosity for a 537G-A transition in exon 3A of the SCN1B gene, resulting in a trp179-to-ter (W179X) substitution predicted to generate a truncated protein lacking the membrane-spanning segment and intracellular portion. The proband had a normal echocardiogram, and a flecainide test for Brugada syndrome was negative. The mutation was also found in her father, who had a normal electrocardiogram and a negative flecainide test. The family history was negative for syncope, sudden cardiac death, or epilepsy. The mutation was not found in 1,404 population controls. Functional studies of the W179X mutation, which occurs only in the beta-1B transcript, showed that coexpression of wildtype beta-1B with Na(v)1.5 increased sodium current density by 69%, whereas coexpression with mutant beta-1B did not increase the sodium current compared to Na(v)1.5 alone; there was no evidence of a dominant-negative effect by the mutant. In addition, wildtype beta-1B produced negative shifts in the voltage dependence of Na(v)1.5 activation and inactivation, whereas mutant beta-1B did not modulate Na(v)1.5 gating. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18464934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0006 ATRIAL FIBRILLATION, FAMILIAL, 13</strong>
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SCN1B, ARG85HIS
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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> rs16969925 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs16969925;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/rs16969925?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=rs16969925" 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=rs16969925" 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=RCV000054537 OR RCV000485749 OR RCV000763041 OR RCV001059134 OR RCV002453365 OR RCV004542717" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054537, RCV000485749, RCV000763041, RCV001059134, RCV002453365, RCV004542717" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054537...</a>
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<p>In a 68-year-old white woman with paroxysmal atrial fibrillation (ATFB13; <a href="/entry/615377">615377</a>) and moderate aortic stenosis, <a href="#17" class="mim-tip-reference" title="Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M. <strong>Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation.</strong> Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808477</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808477[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1161/CIRCEP.108.779181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19808477">Watanabe et al. (2009)</a> identified heterozygosity for a c.254G-A transition in exon 3 of the SCN1B gene, resulting in an arg85-to-his (R85H) substitution at a highly conserved residue in the extracellular domain. Functional analysis in CHO cells demonstrated that there was no increase in peak sodium current amplitude when SCN5A (<a href="/entry/600163">600163</a>) was coexpressed with the R85H mutant, compared to a 75% increase with wildtype SCN1B. In addition, R85H resulted in a positive shift of voltage dependence of both activation and inactivation compared to wildtype; there was no difference in persistent sodium current with the mutant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 ATRIAL FIBRILLATION, FAMILIAL, 13</strong>
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SCN1B, ASP153ASN
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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> rs72550247 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs72550247;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/rs72550247?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=rs72550247" 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=rs72550247" 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=RCV000054538 OR RCV000171064 OR RCV000234993 OR RCV000620098 OR RCV000766769 OR RCV001853079 OR RCV002477176" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054538, RCV000171064, RCV000234993, RCV000620098, RCV000766769, RCV001853079, RCV002477176" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054538...</a>
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<p>In a 57-year-old black woman with lone atrial fibrillation (ATFB13; <a href="/entry/615377">615377</a>), <a href="#17" class="mim-tip-reference" title="Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M. <strong>Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation.</strong> Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808477</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808477[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1161/CIRCEP.108.779181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19808477">Watanabe et al. (2009)</a> identified heterozygosity for a c.457G-A transition in exon 4 of the SCN1B gene, resulting in an asp153-to-asn (D153N) substitution at a highly conserved residue in the extracellular domain. Functional analysis in CHO cells demonstrated that there was only a 24% increase in peak sodium current amplitude when SCN5A (<a href="/entry/600163">600163</a>) was coexpressed with the D153N mutant, compared to a 75% increase with wildtype SCN1B. However, D153N did not affect the voltage dependence of activation or inactivation, and there was no difference in persistent sodium current with the mutant compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0008" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0008 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52</strong>
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SCN1B, ARG125CYS
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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> rs1135401736 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1135401736;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/rs1135401736?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=rs1135401736" 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=rs1135401736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000417191 OR RCV001565054 OR RCV001785611 OR RCV001865315 OR RCV003224271" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000417191, RCV001565054, RCV001785611, RCV001865315, RCV003224271" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000417191...</a>
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<p>In a male infant, born of consanguineous Moroccan parents, with developmental and epileptic encephalopathy-52 (DEE52; <a href="/entry/617350">617350</a>), who was clinically diagnosed with Dravet syndrome, <a href="#10" class="mim-tip-reference" title="Patino, G. A., Claes, L. R. F., Lopez-Santiago, L. F., Slat, E. A., Dondeti, R. S. R., Chen, C., O'Malley, H. A., Gray, C. B. B., Miyazaki, H., Nukina, N., Oyama, F., De Jonghe, P., Isom, L. L. <strong>A functional null mutation of SCN1B in a patient with Dravet syndrome.</strong> J. Neurosci. 29: 10764-10778, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19710327/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19710327</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19710327[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.2475-09.2009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19710327">Patino et al. (2009)</a> identified a homozygous c.373C-T transition in exon 3 of the SCN1B gene, resulting in an arg125-to-cys (R125C) substitution at a conserved residue in the extracellular domain. The mutation segregated with the disorder in the family and was not found in 92 control individuals. Patch-clamp electrophysiologic studies in HEK293 and Chinese hamster lung 1610 fibroblasts transfected with the mutation showed that the mutant protein was poorly expressed at the cell surface, despite robust intracellular expression, consistent with a trafficking defect to the membrane. Studies in Xenopus oocytes showed that the mutant protein was functional if it could be expressed at the cell surface. The inefficient trafficking of the mutant protein to the cell membrane at physiologic temperatures resulted in a functionally null SCN1B phenotype. The parents, who were heterozygous for the mutation, did not have seizures, suggesting that 1 functional SCN1B allele is sufficient for normal control of electrical excitability. The patient had onset of refractory seizures at 3 months of age and died at around 14 months of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19710327" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0009" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0009 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52</strong>
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SCN1B, ILE106PHE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs931949929 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs931949929;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=rs931949929" 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=rs931949929" 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=RCV000417192" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000417192" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000417192</a>
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<p>In a 25-year-old Japanese man, born of unrelated parents, with developmental and epileptic encephalopathy-52 (DEE52; <a href="/entry/617350">617350</a>), who was clinically diagnosed with Dravet syndrome, <a href="#8" class="mim-tip-reference" title="Ogiwara, I., Nakayama, T., Yamagata, T., Ohtani, H., Mazaki, E., Tsuchiya, S., Inoue, Y., Yamakawa, K. <strong>A homozygous mutation of voltage-gated sodium channel beta-1 gene SCN1B in a patient with Dravet syndrome.</strong> Epilepsia 53: e200-e203, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23148524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23148524</a>] [<a href="https://doi.org/10.1111/epi.12040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23148524">Ogiwara et al. (2012)</a> identified a homozygous c.316A-T transversion in exon 3 of the SCN1B gene, resulting in an ile106-to-phe (I106F) substitution at a highly conserved residue in the extracellular Ig loop domain. The unaffected parents were heterozygous for the mutation, which was not found in the dbSNP, Exome Variant Server, or 1000 Genomes Project databases, or in 312 control individuals. Functional studies of the variant and studies of patient cells were not performed. However, <a href="#8" class="mim-tip-reference" title="Ogiwara, I., Nakayama, T., Yamagata, T., Ohtani, H., Mazaki, E., Tsuchiya, S., Inoue, Y., Yamakawa, K. <strong>A homozygous mutation of voltage-gated sodium channel beta-1 gene SCN1B in a patient with Dravet syndrome.</strong> Epilepsia 53: e200-e203, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23148524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23148524</a>] [<a href="https://doi.org/10.1111/epi.12040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23148524">Ogiwara et al. (2012)</a> noted that the domain of the protein affected by the mutation mediates interaction with cellular adhesion molecules. The patient had onset of seizures at about 6 months of age. He was part of a cohort of 67 individuals with early-onset seizures who underwent mutation analysis of the SCN1B gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23148524" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0010" class="mim-anchor"></a>
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<strong>.0010 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52</strong>
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SCN1B, IVS3AS, A-G, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1600370558 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1600370558;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=rs1600370558" 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=rs1600370558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000856658 OR RCV000984918 OR RCV003509616" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000856658, RCV000984918, RCV003509616" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000856658...</a>
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<p>In 2 affected sibs in each of 2 consanguineous Saudi families (families 1 and 3) with developmental and epileptic encephalopathy-52 (DEE52; <a href="/entry/617350">617350</a>), <a href="#12" class="mim-tip-reference" title="Ramadan, W., Patel, N., Anazi, S., Kentab, A. Y., Bashiri, F. A., Hamad, M. H., Jad, L., Salih, M. A., Alsaif, H., Hashem, M., Faqeih, E., Shamseddin, H. E., Alkuraya, F. S. <strong>Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.</strong> Clin. Genet. 92: 327-331, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28218389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28218389</a>] [<a href="https://doi.org/10.1111/cge.12999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28218389">Ramadan et al. (2017)</a> identified homozygosity for a splice site mutation (c.449-2A-G, NM_001037.4) in intron 3 of the SCN1B gene. The mutation, which was identified by sequencing of a multigene epilepsy panel and confirmed by Sanger sequencing, segregated with the disorder in the families. The variant was not found in the ExAC database or in over 7,000 Saudi controls. No functional studies were performed. The patients had onset of seizures in the first months of life; all died in the first decade of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28218389" 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>.0011 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52</strong>
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SCN1B, TYR119ASP
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1600364712 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1600364712;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=rs1600364712" 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=rs1600364712" 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=RCV000856659" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000856659" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000856659</a>
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<p>In a 10-year-old girl, born of consanguineous Saudi parents (family 2), with developmental and epileptic encephalopathy-52 (DEE52; <a href="/entry/617350">617350</a>), <a href="#12" class="mim-tip-reference" title="Ramadan, W., Patel, N., Anazi, S., Kentab, A. Y., Bashiri, F. A., Hamad, M. H., Jad, L., Salih, M. A., Alsaif, H., Hashem, M., Faqeih, E., Shamseddin, H. E., Alkuraya, F. S. <strong>Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.</strong> Clin. Genet. 92: 327-331, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28218389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28218389</a>] [<a href="https://doi.org/10.1111/cge.12999" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28218389">Ramadan et al. (2017)</a> identified homozygosity for a c.355T-G transversion (c.355T-G, NM_001037.4) in the SCN1B gene, resulting in a tyr119-to-asp (Y119D) substitution. The mutation, which was found by sequencing of a multigene epilepsy panel and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was not found in the ExAC database or in over 7,000 Saudi controls. No functional studies were performed. The patient had onset of seizures at 2 months of age and had almost no psychomotor development; a similarly affected sister died at age 8 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28218389" 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>REFERENCES</strong>
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<strong>A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.</strong>
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[<a href="https://doi.org/10.1212/01.wnl.0000080362.55784.1c" target="_blank">Full Text</a>]
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<strong>Mice lacking sodium channel beta-1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture.</strong>
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J. Neurosci. 24: 4030-4042, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15102918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15102918</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15102918[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15102918" 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/10.1523/JNEUROSCI.4139-03.2004" target="_blank">Full Text</a>]
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<a id="Grinton2022" class="mim-anchor"></a>
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Grinton, B. E., Robertson, E., Fearnley, L. G., Scheffer, I. E., Marson, A. G., O'Brien, T. J., Pickrell, W. O., Rees, M. I., Sisodiya, S. M., Balding, D. J., Bennett, M. F., Bahlo, M., Berkovic, S. F., Oliver, K. L.
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<strong>A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.</strong>
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Am. J. Hum. Genet. 109: 2080-2087, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36288729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36288729</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36288729" 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/j.ajhg.2022.10.004" target="_blank">Full Text</a>]
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Kim, Y. O., Dibbens, L., Marini, C., Suis, A., Chemaly, N., Mei, D., McMahon, J. M., Iona, X., Berkovic, S. F., De Jonghe, P., Guerrini, R., Nabbout, R., Scheffer, I. E.
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<strong>Do mutations in SCN1B cause Dravet syndrome?</strong>
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Epilepsy Res. 103: 97-100, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23182416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23182416</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23182416" 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/j.eplepsyres.2012.10.009" target="_blank">Full Text</a>]
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Makita, N., Sloan-Brown, K., Weghuis, D. O., Ropers, H. H., George, A. L., Jr.
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<strong>Genomic organization and chromosomal assignment of the human voltage-gated Na(+) channel beta-1 subunit gene (SCN1B).</strong>
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Genomics 23: 628-634, 1994.
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[<a href="https://doi.org/10.1006/geno.1994.1551" target="_blank">Full Text</a>]
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McClatchey, A. I., Cannon, S. C., Slaugenhaupt, S. A., Gusella, J. F.
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<strong>The cloning and expression of a sodium channel beta-1-subunit cDNA from human brain.</strong>
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[<a href="https://doi.org/10.1093/hmg/2.6.745" target="_blank">Full Text</a>]
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<a id="Morgan2000" class="mim-anchor"></a>
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Morgan, K., Stevens, E. B., Shah, B., Cox, P. J., Dixon, A. K., Lee, K., Pinnock, R. D., Hughes, J., Richardson, P. J., Mizuguchi, K., Jackson, A. P.
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[<a href="https://doi.org/10.1073/pnas.030362197" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23148524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23148524</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23148524" 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/epi.12040" target="_blank">Full Text</a>]
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<a id="Olesen2011" class="mim-anchor"></a>
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Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H.
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[<a href="https://doi.org/10.1093/cvr/cvq348" target="_blank">Full Text</a>]
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<a id="Patino2009" class="mim-anchor"></a>
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Patino, G. A., Claes, L. R. F., Lopez-Santiago, L. F., Slat, E. A., Dondeti, R. S. R., Chen, C., O'Malley, H. A., Gray, C. B. B., Miyazaki, H., Nukina, N., Oyama, F., De Jonghe, P., Isom, L. L.
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[<a href="https://doi.org/10.1523/JNEUROSCI.2475-09.2009" target="_blank">Full Text</a>]
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Qin, N., D'Andrea, M. R., Lubin, M.-L., Shafaee, N., Codd, E. E., Correa, A. M.
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<strong>Molecular cloning and functional expression of the human sodium channel beta-1B subunit, a novel splicing variant of the beta-1 subunit.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14622265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14622265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14622265" 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/10.1046/j.1432-1033.2003.03878.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Ramadan2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ramadan, W., Patel, N., Anazi, S., Kentab, A. Y., Bashiri, F. A., Hamad, M. H., Jad, L., Salih, M. A., Alsaif, H., Hashem, M., Faqeih, E., Shamseddin, H. E., Alkuraya, F. S.
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<strong>Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.</strong>
|
|
Clin. Genet. 92: 327-331, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28218389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28218389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28218389" 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/cge.12999" target="_blank">Full Text</a>]
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Singh1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Singh, R., Scheffer, I. E., Crossland, K., Berkovic, S. F.
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|
<strong>Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome.</strong>
|
|
Ann. Neurol. 45: 75-81, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9894880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9894880</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9894880" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1531-8249(199901)45:1<75::aid-art13>3.0.co;2-w" target="_blank">Full Text</a>]
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Tammaro2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tammaro, P., Conti, F., Moran, O.
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<strong>Modulation of sodium current in mammalian cells by an epilepsy-correlated beta-1-subunit mutation.</strong>
|
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Biochem. Biophys. Res. Commun. 291: 1095-1101, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11866477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11866477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11866477" 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/bbrc.2002.6570" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Wallace2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallace, R. H., Scheffer, I. E., Parasivam, G., Barnett, S., Wallace, G. B., Sutherland, G. R., Berkovic, S. F., Mulley, J. C.
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<strong>Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.</strong>
|
|
Neurology 58: 1426-1429, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12011299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12011299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12011299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.58.9.1426" target="_blank">Full Text</a>]
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Wallace1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallace, R. H., Wang, D. W., Singh, R., Scheffer, I. E., George, A. L., Jr., Phillips, H. A., Saar, K., Reis, A., Johnson, E. W., Sutherland, G. R., Berkovic, S. F., Mulley, J. C.
|
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<strong>Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B.</strong>
|
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Nature Genet. 19: 366-370, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9697698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9697698</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9697698" 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/10.1038/1252" target="_blank">Full Text</a>]
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Watanabe2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M.
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<strong>Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation.</strong>
|
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Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19808477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19808477</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19808477[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19808477" 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/10.1161/CIRCEP.108.779181" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Watanabe2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R.
|
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<strong>Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.</strong>
|
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J. Clin. Invest. 118: 2260-2268, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18464934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18464934</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18464934[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18464934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI33891" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Sonja A. Rasmussen - updated : 11/02/2023
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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 : 10/01/2020<br>Karen R. Hanson - updated : 11/25/2019<br>Cassandra L. Kniffin - updated : 02/16/2017<br>Marla J. F. O'Neill - updated : 7/22/2014<br>Marla J. F. O'Neill - updated : 8/26/2013<br>Marla J. F. O'Neill - updated : 12/23/2008<br>Patricia A. Hartz - updated : 9/22/2005<br>Cassandra L. Kniffin - updated : 1/20/2004<br>Patricia A. Hartz - updated : 10/30/2003<br>Cassandra L. Kniffin - updated : 12/9/2002<br>Victor A. McKusick - updated : 7/28/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/13/1994
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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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carol : 11/03/2023
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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 : 11/02/2023<br>carol : 11/11/2020<br>carol : 10/09/2020<br>ckniffin : 10/01/2020<br>carol : 09/01/2020<br>carol : 11/26/2019<br>carol : 11/25/2019<br>carol : 02/17/2017<br>ckniffin : 02/16/2017<br>alopez : 09/29/2016<br>carol : 01/09/2015<br>alopez : 7/23/2014<br>mcolton : 7/22/2014<br>carol : 8/27/2013<br>carol : 8/26/2013<br>carol : 12/15/2011<br>ckniffin : 4/12/2011<br>wwang : 10/12/2009<br>carol : 6/2/2009<br>terry : 12/23/2008<br>carol : 10/4/2006<br>mgross : 9/22/2005<br>mgross : 9/22/2005<br>tkritzer : 1/27/2004<br>ckniffin : 1/20/2004<br>mgross : 10/30/2003<br>carol : 12/16/2002<br>tkritzer : 12/13/2002<br>ckniffin : 12/9/2002<br>alopez : 4/17/2001<br>terry : 10/17/2000<br>alopez : 10/19/1999<br>kayiaros : 7/8/1999<br>carol : 7/7/1999<br>alopez : 9/4/1998<br>terry : 8/21/1998<br>alopez : 7/31/1998<br>terry : 7/28/1998<br>carol : 12/13/1994
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>*</strong> 600235
|
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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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|
|
SODIUM VOLTAGE-GATED CHANNEL, BETA SUBUNIT 1; SCN1B
|
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</span>
|
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT; SCN1B
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: SCN1B</em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: 19q13.11
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 19:35,030,470-35,040,449 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="5">
|
|
<span class="mim-font">
|
|
19q13.11
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Atrial fibrillation, familial, 13
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
615377
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
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</tr>
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|
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Brugada syndrome 5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612838
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cardiac conduction defect, nonspecific
|
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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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612838
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<td>
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<span class="mim-font">
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Developmental and epileptic encephalopathy 52
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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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617350
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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 recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Generalized epilepsy with febrile seizures plus, type 1
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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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604233
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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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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The SCN1B gene encodes a beta-1 subunit of voltage-gated sodium channels. Voltage-gated sodium channels are multimeric protein complexes essential for action potential generation in excitable cells, including neurons, and consist of a central pore-forming alpha-subunit and 2 beta-subunits. Sodium channel beta-1 subunits modulate channel voltage-dependence and gating, cell surface expression of the channel, and cell-cell and cell-matrix adhesion (summary by Patino et al., 2009). </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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</div>
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<span class="mim-text-font">
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<p>By PCR of human brain RNA using sequences from rat Scn1b, followed by screening a human frontal cortex cDNA library, McClatchey et al. (1993) cloned SCN1B. The C-terminal half of the deduced 218-amino acid protein contains a transmembrane domain. Rat and human SCN1B share 98% amino acid identity. Northern blot analysis detected abundant expression of a 1.5-kb transcript in several human brain regions, including brainstem and cerebellum. Expression was also detected in human skeletal muscle and heart and in rat myoblasts, but not in human liver. </p><p>By in situ hybridization of rat brain, Morgan et al. (2000) detected highest expression of Scn1b in cerebellum and hippocampus. In most areas, expression of Scn1b complemented the expression of Scn3b (608214). The exception was hippocampus, where both subunits were expressed at high levels. </p><p>Qin et al. (2003) identified a splice variant of SCN1B that they designated beta-1B. The deduced 268-amino acid beta-1B protein has a calculated molecular mass of 30.4 kD. The N-terminal 149 amino acids are identical between beta-1B and the previously identified 218-amino acid beta-1 subunit, but their C-terminal sequences share only 17% amino acid identity. Northern blot analysis detected high expression of a 7.5-kb beta-1B transcript in brain and skeletal muscle, and much lower levels in heart, placenta, lung, liver, kidney, and pancreas. Within specific brain regions, expression was highest in cerebellum, followed by cerebral cortex and occipital lobe. Skeletal muscle expressed a second transcript of about 1.5 kb. Immunohistochemical analysis detected beta-1B in many regions of the human brain, including cerebellar Purkinje cells, cortical pyramidal neurons, and neuronal fibers throughout the brain. Strong labeling was detected in human dorsal root ganglion, spinal nerve fibers, and cortical neurons and their processes. </p><p>Watanabe et al. (2008) performed quantitative real-time PCR in nondiseased human heart and detected beta-1 and beta-1B transcripts in the right and left ventricles, with even higher transcript levels of both in the Purkinje (conduction) fibers: 1.6- and 2.4-fold higher for beta-1, and 3.7- and 4.8-fold higher for beta-1B, compared to the right and left ventricles, respectively. </p><p>In nondiseased human heart tissue, Watanabe et al. (2009) observed expression of SCN1B transcript in both atrium and ventricle, with greater abundance in the ventricle. </p><p>By quantitative PCR analysis, Olesen et al. (2011) demonstrated expression of SCN1B in human atria and ventricles. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By screening rodent-human hybrid cell lines, McClatchey et al. (1993) mapped the SCN1B gene to chromosome 19. Using a 15.9-kb genomic SCN1B clone, Makita et al. (1994) assigned the gene to 19q13.1-q13.2 by fluorescence in situ hybridization. They found an intragenic polymorphic (TTA)n repeat positioned between 2 tandem Alu repetitive sequences. Makita et al. (1994) suggested that this polymorphism could be useful in evaluating SCN1B as a candidate gene for hereditary disorders affecting membrane excitability. Three voltage-gated potassium channels had been mapped to chromosome 19: KCNA7 (176268), KCNC2 (176256), and KCNC3 (176264). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Makita et al. (1994) analyzed the structure of the SCN1B gene. A complete coding region was found in approximately 9.0 kb of genomic DNA and comprised 5 exons, ranging in size from 72 to 749 bp, and 4 introns, ranging in size from 90 bp to 5.5 kb. </p><p>Qin et al. (2003) determined that the SCN1B gene contains 6 alternatively spliced exons and spans about 9 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>McClatchey et al. (1993) found that coexpression of the human beta-1 subunit and the rat muscle alpha subunit (SCN4A; 603967) in Xenopus oocytes accelerated the inactivation of the sodium current 5-fold and shifted the point of half-maximal inactivation 10 mV in the hyperpolarizing direction compared with oocytes expressing the alpha subunit alone. The rate of the voltage dependence of inactivation was not affected. Beta-1 increased the peak amplitude of the sodium current an average of 2-fold, but the variability was quite large. </p><p>Tammaro et al. (2002) expressed the rat beta-1 subunit in human embryonic kidney cells stably expressing the rat alpha subunit (SCN4A). They found that beta-1 increased the density of sodium channels on the cell surface and modulated the inactivation of the sodium current, hastening recovery from inactivation. </p><p>By functional expression of rat Scn3b or Scn1b with rat Scn2a1 (182390) in Xenopus oocytes, Morgan et al. (2000) determined that both Scn3b and Scn1b caused a hyperpolarizing shift in the voltage-dependence of inactivation and modulated the alpha subunit by increasing the fraction of channels operating in the fast-gating mode. The kinetics were distinct, with Scn1b inactivating channel opening more quickly than Scn3b. </p><p>Qin et al. (2003) found that coexpression of the human beta-1B variant with Nav1.2 (SCN2A; 182390) in Xenopus oocytes increased the ionic current over that obtained with Nav1.2 alone. There were no significant changes in voltage-dependent kinetics or steady-state properties of the channel. </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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</div>
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<span class="mim-text-font">
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<p><strong><em>Generalized Epilepsy With Febrile Seizures Plus, Type 1</em></strong></p><p>
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In affected members of a large multigenerational family from Tasmania with generalized epilepsy with febrile seizures plus-1 (GEFSP1; 604233) reported by Singh et al. (1999), Wallace et al. (1998) identified a heterozygous missense mutation in the SCN1B gene (C121W; 600235.0001). The mutation segregated with the disorder in the family, although there was phenotypic variability. </p><p>Grinton et al. (2022) examined 14 unrelated families from Australia, the United Kingdom, and the United States with GEFS+, all with the same heterozygous mutation in the SCN1B gene (C121W; 600235.0001). The authors identified a core ancestral haplotype spanning about 260 kb that was shared by all 14 families. The age of the most recent common ancestor of these families was estimated at 31.2 generations or about 800 years earlier. The penetrance of this variant in these multigenerational families was about 70%. Analysis of UK Biobank whole-exome sequencing data identified the heterozygous variant in 74 (0.039%) unrelated persons. Most of these carriers (89%) shared the full core ancestral haplotype, while the others shared smaller regions of the core haplotype. All 74 shared segments of the extended haplotype outside the core haplotype region. The variant was seen 14 times more often in the European cohort of the UK Biobank than in the gnomAD database, supporting the variant being of British origin. The authors concluded that variants that are present in the population at low frequencies should be considered as potentially pathogenic when the phenotype is mild and incompletely penetrant. </p><p><strong><em>Brugada Syndrome 5 and Cardiac Conduction Defects</em></strong></p><p>
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Watanabe et al. (2008) analyzed the SCN1B gene in 282 probands with Brugada syndrome and 44 patients with conduction disease (see BRGDA5, 612838), all of whom were negative for mutation in the SCN5A gene, and identified 3 mutations in 3 kindreds, 1 French, 1 Turkish, and 1 Dutch (600235.0003, 600235.0004, and 600235.0005, respectively), that segregated with disease and were not found in 1,404 population controls. None of the mutation-positive families had a history of epilepsy. Two of the mutations were located in the alternately processed beta-1B transcript; functional studies demonstrated a lower sodium current when Na(v)1.5 was coexpressed with mutant beta-1 or beta-1B subunits than with wildtype. </p><p><strong><em>Familial Atrial Fibrillation 13</em></strong></p><p>
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Watanabe et al. (2009) screened the 4 genes encoding sodium channel beta subunits, SCN1B, SCN2B (601327), SCN3B (608214), and SCN4B (608256), in 480 patients with atrial fibrillation (AF), including 118 patients with lone AF and 362 patients with AF and other cardiovascular disease. They identified 2 unrelated female patients, 1 with AF and aortic stenosis and 1 with lone AF (ATFB13; 615377), who had heterozygous missense mutations in the SCN1B gene, R85H (600235.0006) and D153N (600235.0007), respectively. Sequencing of the SCN5A gene in the 2 women revealed no mutations, and the SCN1B variants were not found in a total of 638 controls. Another 2 AF patients were found to have mutations in the SCN2B gene (601327.0001 and 601327.0002; see ATFB14, 615378), but no disease-causing variants were identified in SCN3B or SCN4B. </p><p><strong><em>Developmental and Epileptic Encephalopathy 52</em></strong></p><p>
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|
In a male infant, born of consanguineous Moroccan parents, with developmental and epileptic encephalopathy-52 (DEE52; 617350), Patino et al. (2009) identified a homozygous missense mutation in the SCN1B gene (R125C; 600235.0008). In vitro functional cellular expression studies showed that the mutant protein was poorly expressed at the cell surface, despite robust intracellular expression, consistent with a trafficking defect to the membrane. The inefficient trafficking of the mutant protein to the cell membrane at physiologic temperatures resulted in a functionally null SCN1B phenotype. The parents, who were heterozygous for the mutation, did not have seizures, suggesting that one functional SCN1B allele is sufficient for normal control of electrical excitability. </p><p>In a 25-year-old Japanese man with DEE52, who was born of unrelated parents, Ogiwara et al. (2012) identified a homozygous missense mutation in the SCN1B gene (I106F; 600235.0009). Functional studies of the variant and studies of patient cells were not performed. However, Ogiwara et al. (2012) noted that the domain of the protein affected by the mutation mediates interaction with cellular adhesion molecules. The patient was part of a cohort of 67 individuals with early-onset seizures without mutations in the SCN1A (182389) or SCN2A (182390) genes who underwent mutation analysis of the SCN1B gene. </p><p>Kim et al. (2013) did not find any pathogenic mutations in the SCN1B gene among 54 patients with early-infantile epileptic encephalopathy in whom SCN1A mutations had been excluded, suggesting that SCN1B mutations are not a common cause of that phenotype. </p><p>In affected members of 3 unrelated Saudi families with DEE52, Ramadan et al. (2017) identified homozygous mutations in the SCN1B gene: the same splicing mutation (600235.0010) in 2 families, and a missense mutation (Y119D; 600235.0011) in the third family. The mutations, which were found by sequencing of a multigene epilepsy panel and confirmed by Sanger sequencing, segregated with the disorder in the families and were not found in the ExAC database. No functional studies were performed. </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>Chen et al. (2004) produced beta-1-null mice by gene targeting. Knockout mice exhibited ataxic gait, spontaneous seizures, growth retardation, and death around postnatal day 20. They showed slowing of action potential conduction, reduced number of mature nodes of Ranvier, alterations in nodal architecture, loss of sodium channel-contactin (see CNTN1; 600016) interactions, and abnormalities in the expression of Nav1.1 (SCN1A; 182389) and Nav1.3 (SCN3A; 182391) in pyramidal neurons CA2/CA3. Mutant mice had impacted esophagi, possibly attributable to enteric nervous system impairment. Chen et al. (2004) concluded that beta-1 regulates sodium channel density and localization, is involved in axo-glial communication at nodes of Ranvier, and is required for normal action potential conduction and control of excitability in vivo. </p><p>Patino et al. (2009) found that heterozygous Scn1b +/- mice did not have increased susceptibility to seizures. Electrophysiologic studies of hippocampal slices from Scn1b-null mice showed increased peak voltage of action potentials and amplitude of action potentials in CA3 neurons, consistent with neuronal hyperexcitability, but not in CA1 neurons. Changes in sodium current density were not observed in dissociated CA3 bipolar neurons. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>11 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SCN1B, CYS121TRP
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<br />
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SNP: rs104894718,
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gnomAD: rs104894718,
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ClinVar: RCV000009834, RCV000030434, RCV000171041, RCV000184010, RCV000646741, RCV000763042, RCV002316188, RCV004532319
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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 family, most of them living in the Australian state of Tasmania (Singh et al., 1999), with generalized epilepsy with febrile seizures plus-1 (GEFSP1; 604233), Wallace et al. (1998) identified a heterozygous c.387C-G transversion in the SCN11B gene, resulting in a cys121-to-trp (C121W) substitution. The substitution occurred at a conserved residue in the putative disulfide bridge that normally maintains an extracellular immunoglobulin-like fold. Coexpression of mutant beta-1 subunit with a brain sodium channel alpha subunit in Xenopus laevis oocytes demonstrated that the mutation interferes with the ability of the subunit to modulate channel-gating kinetics consistent with a loss-of-function allele. </p><p>Tammaro et al. (2002) expressed wildtype rat beta-1 or mutant rat beta-1 with the C121W substitution in human embryonic kidney cells stably expressing the rat alpha subunit (SCN4A; 603967). Wildtype beta-1 increased the density of sodium channels on the cell surface and modulated the inactivation of the sodium current, hastening recovery from inactivation. In contrast, beta-1 with C121W lacked the ability to modulate sodium currents, but it maintained the ability to increase current density. </p><p>Wallace et al. (2002) identified a second family, from Queensland, Australia, with GEFS+ and the C121W mutation. Of 19 individuals with seizures, 16 had phenotypes within the GEFS+ spectrum. The mutation was present in 13 of 14 individuals with GEFS+ available for testing and in 1 of the 3 individuals with seizures not consistent with the GEFS+ phenotype. Four unaffected members tested also carried the mutation. The penetrance of the mutation in this family was determined to be 76%. A common haplotype was observed in this family and the family reported by Wallace et al. (1998), suggesting a founder effect. </p><p>Grinton et al. (2022) reported evidence of a single founder event giving rise to this variant in 14 unrelated families with the GEFS+ phenotype, which occurred about 800 years earlier. Grinton et al. (2022) stated that the nucleotide change in this variant is c.363C-G. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SCN1B, IVS2AS, A-C, -2
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<br />
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SNP: rs724159982,
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ClinVar: RCV000009835
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a family with generalized epilepsy with febrile seizures plus (GEFSP1; 604233) inherited in an autosomal dominant pattern with reduced penetrance, Audenaert et al. (2003) identified a heterozygous A-to-C transversion in the splice acceptor site of exon 3 of the SCN1B gene, resulting in deletion of 5 amino acids within the extracellular immunoglobulin-like fold of the protein. The proband presented at age 17 months with frequent absence seizures that were not provoked by fever. Four other family members with the mutation had febrile seizures or febrile seizures plus. Three members who carried the mutation did not have seizures. Audenaert et al. (2003) noted the unusual phenotype of the proband with absence seizures. </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 BRUGADA SYNDROME 5</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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SCN1B, 536G-A, TRP179TER
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<br />
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SNP: rs267607028,
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gnomAD: rs267607028,
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ClinVar: RCV000009836, RCV000171062, RCV004786250
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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 53-year-old French man who presented with chest pain but had normal coronary angiography and echocardiography, in whom electrocardiogram (ECG) revealed ST segment elevation typical of Brugada syndrome (BRGDA5; 612838), Watanabe et al. (2008) identified heterozygosity for a 536G-A transition in exon 3A of the SCN1B gene, resulting in a trp179-to-ter (W179X) substitution predicted to generate a truncated protein lacking the membrane-spanning segment and intracellular portion. The proband also had conduction abnormalities, including a prolonged PR interval of 220 ms and left anterior hemiblock, and ventricular fibrillation was induced by programmed electrical stimulation in the absence of drugs. The mutation was also found in the proband's brother, who had no history of palpitations or syncope, but on baseline ECG had left anterior hemiblock and minor ST segment elevation suggestive of Brugada syndrome (type II saddleback abnormalities); on flecainide challenge, the ST segment elevation was exacerbated but did not meet the criteria for a diagnostic (type I) pattern. Their sister, who also carried the mutation, had a normal ECG and a negative flecainide test, but her mutation-positive son was found to have right bundle branch block and type II Brugada syndrome after flecainide challenge. There was no family history of tachyarrhythmias, syncope, sudden cardiac death, or epilepsy. The mutation was not found in 1,404 population controls. Functional studies of the W179X mutation, which occurs only in the beta-1B transcript, showed that coexpression of wildtype beta-1B with Na(v)1.5 increased sodium current density by 69%, whereas coexpression with mutant beta-1B did not increase the sodium current compared to Na(v)1.5 alone; there was no evidence of a dominant-negative effect by the mutant. In addition, wildtype beta-1B produced negative shifts in the voltage dependence of Na(v)1.5 activation and inactivation, whereas mutant beta-1B did not modulate Na(v)1.5 gating. </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 CARDIAC CONDUCTION DEFECT, NONSPECIFIC</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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SCN1B, GLU87GLN
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<br />
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SNP: rs121434627,
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gnomAD: rs121434627,
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ClinVar: RCV000009837, RCV003332078, RCV003988820
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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 50-year-old Turkish woman who presented with palpitations and dizziness and had complete left bundle branch block on electrocardiogram (see 612838), Watanabe et al. (2008) identified heterozygosity for a 259G-C transversion in exon 3 of the SCN1B gene, resulting in a glu87-to-gln (E87Q) substitution at a highly conserved residue within the extracellular immunoglobulin loop. The proband had a prolonged His-ventricle interval of 80 ms and inducible atrioventricular nodal reentrant tachycardia; complete atrioventricular block occurred following atrial programmed stimulation and during induced tachycardia. The mutation was also identified in her brother, who had bifascicular block (right bundle branch block and left anterior hemiblock), and in their mother, who had a normal electrocardiogram. There was no family history of syncope, sudden cardiac death, or epilepsy. The mutation was not found in 1,404 population controls, including 150 unrelated Turkish individuals. Functional studies of the E87Q mutation, located in a region of the protein common to both the beta-1 and beta-1B transcripts, showed that coexpression of wildtype beta-1 or beta-1B with Na(v)1.5 significantly increased sodium current density (by 76% and 69%, respectively), whereas coexpression with mutant beta-1 or beta-1B did not increase the sodium current compared to Na(v)1.5 alone; coexpression of both wildtype and mutant beta-1 demonstrated a dominant-negative effect by the mutant. In addition, wildtype beta-1 or beta-1B produced negative shifts in the voltage dependence of Na(v)1.5 activation and inactivation, whereas mutant beta-1 or beta-1B shifted only the voltage dependence of inactivation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0005 CARDIAC CONDUCTION DEFECT, NONSPECIFIC</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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SCN1B, 537G-A, TRP179TER
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<br />
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SNP: rs267607029,
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ClinVar: RCV000009838
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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 17-year-old Dutch girl who had right bundle branch block and a prolonged PR interval of 196 ms on electrocardiogram (see 612838), Watanabe et al. (2008) identified heterozygosity for a 537G-A transition in exon 3A of the SCN1B gene, resulting in a trp179-to-ter (W179X) substitution predicted to generate a truncated protein lacking the membrane-spanning segment and intracellular portion. The proband had a normal echocardiogram, and a flecainide test for Brugada syndrome was negative. The mutation was also found in her father, who had a normal electrocardiogram and a negative flecainide test. The family history was negative for syncope, sudden cardiac death, or epilepsy. The mutation was not found in 1,404 population controls. Functional studies of the W179X mutation, which occurs only in the beta-1B transcript, showed that coexpression of wildtype beta-1B with Na(v)1.5 increased sodium current density by 69%, whereas coexpression with mutant beta-1B did not increase the sodium current compared to Na(v)1.5 alone; there was no evidence of a dominant-negative effect by the mutant. In addition, wildtype beta-1B produced negative shifts in the voltage dependence of Na(v)1.5 activation and inactivation, whereas mutant beta-1B did not modulate Na(v)1.5 gating. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0006 ATRIAL FIBRILLATION, FAMILIAL, 13</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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SCN1B, ARG85HIS
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<br />
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SNP: rs16969925,
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gnomAD: rs16969925,
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ClinVar: RCV000054537, RCV000485749, RCV000763041, RCV001059134, RCV002453365, RCV004542717
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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 68-year-old white woman with paroxysmal atrial fibrillation (ATFB13; 615377) and moderate aortic stenosis, Watanabe et al. (2009) identified heterozygosity for a c.254G-A transition in exon 3 of the SCN1B gene, resulting in an arg85-to-his (R85H) substitution at a highly conserved residue in the extracellular domain. Functional analysis in CHO cells demonstrated that there was no increase in peak sodium current amplitude when SCN5A (600163) was coexpressed with the R85H mutant, compared to a 75% increase with wildtype SCN1B. In addition, R85H resulted in a positive shift of voltage dependence of both activation and inactivation compared to wildtype; there was no difference in persistent sodium current with the mutant. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 ATRIAL FIBRILLATION, FAMILIAL, 13</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
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SCN1B, ASP153ASN
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<br />
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|
|
SNP: rs72550247,
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|
|
|
|
|
gnomAD: rs72550247,
|
|
|
|
|
|
ClinVar: RCV000054538, RCV000171064, RCV000234993, RCV000620098, RCV000766769, RCV001853079, RCV002477176
|
|
|
|
|
|
</span>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 57-year-old black woman with lone atrial fibrillation (ATFB13; 615377), Watanabe et al. (2009) identified heterozygosity for a c.457G-A transition in exon 4 of the SCN1B gene, resulting in an asp153-to-asn (D153N) substitution at a highly conserved residue in the extracellular domain. Functional analysis in CHO cells demonstrated that there was only a 24% increase in peak sodium current amplitude when SCN5A (600163) was coexpressed with the D153N mutant, compared to a 75% increase with wildtype SCN1B. However, D153N did not affect the voltage dependence of activation or inactivation, and there was no difference in persistent sodium current with the mutant compared to wildtype. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
SCN1B, ARG125CYS
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|
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|
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|
<br />
|
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|
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SNP: rs1135401736,
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|
|
|
|
|
gnomAD: rs1135401736,
|
|
|
|
|
|
ClinVar: RCV000417191, RCV001565054, RCV001785611, RCV001865315, RCV003224271
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male infant, born of consanguineous Moroccan parents, with developmental and epileptic encephalopathy-52 (DEE52; 617350), who was clinically diagnosed with Dravet syndrome, Patino et al. (2009) identified a homozygous c.373C-T transition in exon 3 of the SCN1B gene, resulting in an arg125-to-cys (R125C) substitution at a conserved residue in the extracellular domain. The mutation segregated with the disorder in the family and was not found in 92 control individuals. Patch-clamp electrophysiologic studies in HEK293 and Chinese hamster lung 1610 fibroblasts transfected with the mutation showed that the mutant protein was poorly expressed at the cell surface, despite robust intracellular expression, consistent with a trafficking defect to the membrane. Studies in Xenopus oocytes showed that the mutant protein was functional if it could be expressed at the cell surface. The inefficient trafficking of the mutant protein to the cell membrane at physiologic temperatures resulted in a functionally null SCN1B phenotype. The parents, who were heterozygous for the mutation, did not have seizures, suggesting that 1 functional SCN1B allele is sufficient for normal control of electrical excitability. The patient had onset of refractory seizures at 3 months of age and died at around 14 months of age. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SCN1B, ILE106PHE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs931949929,
|
|
|
|
|
|
|
|
ClinVar: RCV000417192
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 25-year-old Japanese man, born of unrelated parents, with developmental and epileptic encephalopathy-52 (DEE52; 617350), who was clinically diagnosed with Dravet syndrome, Ogiwara et al. (2012) identified a homozygous c.316A-T transversion in exon 3 of the SCN1B gene, resulting in an ile106-to-phe (I106F) substitution at a highly conserved residue in the extracellular Ig loop domain. The unaffected parents were heterozygous for the mutation, which was not found in the dbSNP, Exome Variant Server, or 1000 Genomes Project databases, or in 312 control individuals. Functional studies of the variant and studies of patient cells were not performed. However, Ogiwara et al. (2012) noted that the domain of the protein affected by the mutation mediates interaction with cellular adhesion molecules. The patient had onset of seizures at about 6 months of age. He was part of a cohort of 67 individuals with early-onset seizures who underwent mutation analysis of the SCN1B gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SCN1B, IVS3AS, A-G, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1600370558,
|
|
|
|
|
|
|
|
ClinVar: RCV000856658, RCV000984918, RCV003509616
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 affected sibs in each of 2 consanguineous Saudi families (families 1 and 3) with developmental and epileptic encephalopathy-52 (DEE52; 617350), Ramadan et al. (2017) identified homozygosity for a splice site mutation (c.449-2A-G, NM_001037.4) in intron 3 of the SCN1B gene. The mutation, which was identified by sequencing of a multigene epilepsy panel and confirmed by Sanger sequencing, segregated with the disorder in the families. The variant was not found in the ExAC database or in over 7,000 Saudi controls. No functional studies were performed. The patients had onset of seizures in the first months of life; all died in the first decade of life. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SCN1B, TYR119ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1600364712,
|
|
|
|
|
|
|
|
ClinVar: RCV000856659
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 10-year-old girl, born of consanguineous Saudi parents (family 2), with developmental and epileptic encephalopathy-52 (DEE52; 617350), Ramadan et al. (2017) identified homozygosity for a c.355T-G transversion (c.355T-G, NM_001037.4) in the SCN1B gene, resulting in a tyr119-to-asp (Y119D) substitution. The mutation, which was found by sequencing of a multigene epilepsy panel and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was not found in the ExAC database or in over 7,000 Saudi controls. No functional studies were performed. The patient had onset of seizures at 2 months of age and had almost no psychomotor development; a similarly affected sister died at age 8 years. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
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|
<div>
|
|
<ol>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Audenaert, D., Claes, L., Ceulemans, B., Lofgren, A., Van Broeckhoven, C., De Jonghe, P.
|
|
<strong>A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.</strong>
|
|
Neurology 61: 854-856, 2003.
|
|
|
|
|
|
[PubMed: 14504340]
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|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000080362.55784.1c]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Chen, C., Westenbroek, R. E., Xu, X., Edwards, C. A., Sorenson, D. R., Chen, Y., McEwen, D. P., O'Malley, H. A., Bharucha, V., Meadows, L. S., Knudsen, G. A., Vilaythong, A., Noebels, J. L., Saunders, T. L., Scheuer, T., Shrager, P., Catterall, W. A., Isom, L. L.
|
|
<strong>Mice lacking sodium channel beta-1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture.</strong>
|
|
J. Neurosci. 24: 4030-4042, 2004.
|
|
|
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|
|
[PubMed: 15102918]
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|
[Full Text: https://doi.org/10.1523/JNEUROSCI.4139-03.2004]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Grinton, B. E., Robertson, E., Fearnley, L. G., Scheffer, I. E., Marson, A. G., O'Brien, T. J., Pickrell, W. O., Rees, M. I., Sisodiya, S. M., Balding, D. J., Bennett, M. F., Bahlo, M., Berkovic, S. F., Oliver, K. L.
|
|
<strong>A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.</strong>
|
|
Am. J. Hum. Genet. 109: 2080-2087, 2022.
|
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|
|
[PubMed: 36288729]
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|
[Full Text: https://doi.org/10.1016/j.ajhg.2022.10.004]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kim, Y. O., Dibbens, L., Marini, C., Suis, A., Chemaly, N., Mei, D., McMahon, J. M., Iona, X., Berkovic, S. F., De Jonghe, P., Guerrini, R., Nabbout, R., Scheffer, I. E.
|
|
<strong>Do mutations in SCN1B cause Dravet syndrome?</strong>
|
|
Epilepsy Res. 103: 97-100, 2013.
|
|
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|
|
|
[PubMed: 23182416]
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|
|
[Full Text: https://doi.org/10.1016/j.eplepsyres.2012.10.009]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Makita, N., Sloan-Brown, K., Weghuis, D. O., Ropers, H. H., George, A. L., Jr.
|
|
<strong>Genomic organization and chromosomal assignment of the human voltage-gated Na(+) channel beta-1 subunit gene (SCN1B).</strong>
|
|
Genomics 23: 628-634, 1994.
|
|
|
|
|
|
[PubMed: 7851891]
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|
|
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|
|
[Full Text: https://doi.org/10.1006/geno.1994.1551]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
McClatchey, A. I., Cannon, S. C., Slaugenhaupt, S. A., Gusella, J. F.
|
|
<strong>The cloning and expression of a sodium channel beta-1-subunit cDNA from human brain.</strong>
|
|
Hum. Molec. Genet. 2: 745-749, 1993.
|
|
|
|
|
|
[PubMed: 8394762]
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|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/2.6.745]
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Morgan, K., Stevens, E. B., Shah, B., Cox, P. J., Dixon, A. K., Lee, K., Pinnock, R. D., Hughes, J., Richardson, P. J., Mizuguchi, K., Jackson, A. P.
|
|
<strong>Beta-3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics.</strong>
|
|
Proc. Nat. Acad. Sci. 97: 2308-2313, 2000.
|
|
|
|
|
|
[PubMed: 10688874]
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|
|
[Full Text: https://doi.org/10.1073/pnas.030362197]
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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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