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<title>
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Entry
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- #614847 - EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12
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- OMIM
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<span class="h4">#614847</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/614847"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS600669"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(EPILEPSY, IDIOPATHIC GENERALIZED) OR (SLC2A1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614847[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 style="display: table-cell;">Animal Models</div>
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</a>
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<div><a href="http://www.informatics.jax.org/disease/614847" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></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 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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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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614847
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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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EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12
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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="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/513?start=-3&limit=10&highlight=513">
|
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1p34.2
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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{Epilepsy, idiopathic generalized, susceptibility to, 12}
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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/614847"> 614847 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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SLC2A1
|
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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/138140"> 138140 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/614847" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS600669" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/614847" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/614847" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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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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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Seizures, absence <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4316903&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4316903</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002121</a>]</span><br /> -
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Seizures, juvenile myoclonic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3553860&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3553860</a>]</span><br /> -
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Seizures, generalized tonic-clonic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1217136003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1217136003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G40.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G40.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0494475&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0494475</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002069</a>]</span><br /> -
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Intellectual disability (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Movement disorders (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60342002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60342002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100022" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100022</a>]</span><br />
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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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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
|
- Onset in first to second decade<br /> -
|
|
Seizures may remit with age (in some patients)<br /> -
|
|
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
|
|
Favorable response of seizures to a ketogenic diet<br />
|
|
|
|
</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>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (SLC2A1, <a href="/entry/138140#0019">138140.0019</a>)<br />
|
|
|
|
</span>
|
|
</div>
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</div>
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</div>
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|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Epilepsy, idiopathic generalized
|
|
- <a href="/phenotypicSeries/PS600669">PS600669</a>
|
|
- 27 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/61?start=-3&limit=10&highlight=61"> 1p36.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613060"> {?Generalized epilepsy with febrile seizures plus, type 5, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<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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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613060"> 613060 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137163"> GABRD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137163"> 137163 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/513?start=-3&limit=10&highlight=513"> 1p34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614847"> {Epilepsy, idiopathic generalized, susceptibility to, 12} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614847"> 614847 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138140"> SLC2A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138140"> 138140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/690?start=-3&limit=10&highlight=690"> 2q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607682"> {Epilepsy, idiopathic generalized, susceptibility to, 9} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
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</td>
|
|
<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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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607682"> 607682 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601949"> CACNB4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601949"> 601949 </a>
|
|
</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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|
|
<a href="/geneMap/2/690?start=-3&limit=10&highlight=690"> 2q23.3 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607682"> {Epilepsy, juvenile myoclonic, susceptibility to, 6} </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607682"> 607682 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601949"> CACNB4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601949"> 601949 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/599?start=-3&limit=10&highlight=599"> 3q13.33-q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612899"> {?Epilepsy idiopathic generalized, susceptibility to, 8} </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612899"> 612899 </a>
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|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601199"> CASR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601199"> 601199 </a>
|
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</span>
|
|
</td>
|
|
</tr>
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|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607628"> {Epilepsy, idiopathic generalized, susceptibility to, 11} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607628"> 607628 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600570"> CLCN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600570"> 600570 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607628"> {Epilepsy, juvenile absence, susceptibility to, 2} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607628"> 607628 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600570"> CLCN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600570"> 600570 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607628"> {Epilepsy, juvenile myoclonic, susceptibility to, 8} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607628"> 607628 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600570"> CLCN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600570"> 600570 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/735?start=-3&limit=10&highlight=735"> 5q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611136"> {Epilepsy, childhood absence, susceptibility to, 4} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611136"> 611136 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137160"> GABRA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137160"> 137160 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/735?start=-3&limit=10&highlight=735"> 5q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611136"> {Epilepsy, juvenile myoclonic, susceptibility to, 5} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611136"> 611136 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137160"> GABRA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137160"> 137160 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/495?start=-3&limit=10&highlight=495"> 8q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600669"> {Epilepsy, idiopathic generalized, susceptibility to, 1} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600669"> 600669 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600669"> EIG1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600669"> 600669 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/246?start=-3&limit=10&highlight=246"> 9q21.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618357"> {Epilepsy, idiopathic generalized, susceptibility to, 15} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618357"> 618357 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601972"> RORB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601972"> 601972 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/417?start=-3&limit=10&highlight=417"> 9q32-q33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608762"> {Epilepsy, idiopathic generalized, susceptibility to, 3} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608762"> 608762 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608762"> EIG3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608762"> 608762 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/135?start=-3&limit=10&highlight=135"> 10p11.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611934"> {Epilepsy, idiopathic generalized, susceptibility to, 5} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611934"> 611934 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611934"> EIG5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611934"> 611934 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/325?start=-3&limit=10&highlight=325"> 10q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618596"> {Epilepsy, idiopathic generalized, susceptibility to, 16} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618596"> 618596 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600150"> KCNMA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600150"> 600150 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/543?start=-3&limit=10&highlight=543"> 10q25-q26 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609750"> {Epilepsy, idiopathic generalized, susceptibility to 4} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609750"> 609750 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609750"> EIG4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609750"> 609750 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/271?start=-3&limit=10&highlight=271"> 14q23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606972"> {Epilepsy, idiopathic generalized, susceptibility to, 2} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
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<a href="/entry/606972"> 606972 </a>
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<span class="mim-font">
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<a href="/entry/606972"> EIG2 </a>
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<span class="mim-font">
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<a href="/entry/606972"> 606972 </a>
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<a href="/geneMap/15/65?start=-3&limit=10&highlight=65"> 15q14 </a>
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<span class="mim-font">
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<a href="/entry/604827"> Epilepsy, juvenile myoclonic </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Isolated cases">IC</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
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<a href="/entry/604827"> 604827 </a>
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<span class="mim-font">
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<a href="/entry/604827"> EIG7 </a>
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<span class="mim-font">
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<a href="/entry/604827"> 604827 </a>
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<a href="/geneMap/15/65?start=-3&limit=10&highlight=65"> 15q14 </a>
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<span class="mim-font">
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<a href="/entry/604827"> {Epilepsy, idiopathic generalized, susceptibility to, 7} </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Isolated cases">IC</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
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<a href="/entry/604827"> 604827 </a>
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<span class="mim-font">
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<a href="/entry/604827"> EIG7 </a>
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<span class="mim-font">
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<a href="/entry/604827"> 604827 </a>
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<span class="mim-font">
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<a href="/geneMap/15/361?start=-3&limit=10&highlight=361"> 15q24.1 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/619521"> {Epilepsy, idiopathic generalized, susceptibility to, 18} </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/619521"> 619521 </a>
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<span class="mim-font">
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<a href="/entry/605206"> HCN4 </a>
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<span class="mim-font">
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<a href="/entry/605206"> 605206 </a>
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<span class="mim-font">
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<a href="/geneMap/16/51?start=-3&limit=10&highlight=51"> 16p13.3 </a>
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<span class="mim-font">
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<a href="/entry/611942"> {Epilepsy, idiopathic generalized, susceptibility to, 6} </a>
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<span class="mim-font">
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/611942"> 611942 </a>
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<span class="mim-font">
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<a href="/entry/607904"> CACNA1H </a>
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<span class="mim-font">
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<a href="/entry/607904"> 607904 </a>
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<span class="mim-font">
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<a href="/geneMap/16/51?start=-3&limit=10&highlight=51"> 16p13.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611942"> {Epilepsy, childhood absence, susceptibility to, 6} </a>
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<span class="mim-font">
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/611942"> 611942 </a>
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<span class="mim-font">
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<a href="/entry/607904"> CACNA1H </a>
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<span class="mim-font">
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<a href="/entry/607904"> 607904 </a>
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<span class="mim-font">
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<a href="/geneMap/19/21?start=-3&limit=10&highlight=21"> 19p13.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602477"> {Epilepsy, idiopathic generalized, susceptibility to, 17} </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</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 class="mim-font">
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<a href="/entry/602477"> 602477 </a>
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<span class="mim-font">
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<a href="/entry/602781"> HCN2 </a>
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<span class="mim-font">
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<a href="/entry/602781"> 602781 </a>
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</span>
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<span class="mim-font">
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<a href="/geneMap/19/21?start=-3&limit=10&highlight=21"> 19p13.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602477"> Febrile seizures, familial, 2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</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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<span class="mim-font">
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<a href="/entry/602477"> 602477 </a>
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<span class="mim-font">
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<a href="/entry/602781"> HCN2 </a>
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<span class="mim-font">
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<a href="/entry/602781"> 602781 </a>
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<span class="mim-font">
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<a href="/geneMap/19/21?start=-3&limit=10&highlight=21"> 19p13.3 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602477"> Generalized epilepsy with febrile seizures plus, type 11 </a>
|
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/602477"> 602477 </a>
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<span class="mim-font">
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<a href="/entry/602781"> HCN2 </a>
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<span class="mim-font">
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<a href="/entry/602781"> 602781 </a>
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<span class="mim-font">
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<a href="/geneMap/20/353?start=-3&limit=10&highlight=353"> 20q13.12 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616685"> {Epilepsy, idiopathic generalized, susceptibility to, 14} </a>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/616685"> 616685 </a>
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<span class="mim-font">
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<a href="/entry/606726"> SLC12A5 </a>
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<span class="mim-font">
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<a href="/entry/606726"> 606726 </a>
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<a href="/geneMap/21/17?start=-3&limit=10&highlight=17"> 21q21.1 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/621064"> {Epilepsy, idiopathic generalized, susceptibility to, 19} </a>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/621064"> 621064 </a>
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<span class="mim-font">
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<a href="/entry/604736"> USP25 </a>
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<span class="mim-font">
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<a href="/entry/604736"> 604736 </a>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</h4>
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<p>A number sign (#) is used with this entry because susceptibility to idiopathic generalized epilepsy-12 (EIG12) is conferred by heterozygous mutation in the SLC2A1 gene (<a href="/entry/138140">138140</a>) on chromosome 1p34.</p><p>Allelic disorders with overlapping features include GLUT1 deficiency syndrome-1 (GLUT1DS1; <a href="/entry/606777">606777</a>), GLUT1 deficiency syndrome-2 (GLUT1DS2; <a href="/entry/612126">612126</a>), and dystonia-9 (DYT9; <a href="/entry/601042">601042</a>).</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see EIG (<a href="/entry/600669">600669</a>).</p>
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Clinical Features</strong>
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<p><a href="#5" class="mim-tip-reference" title="Suls, A., Mullen, S. A., Weber, Y. G., Verhaert, K., Ceulemans, B., Guerrini, R., Wuttke, T. V., Salvo-Vargas, A., Deprez, L., Claes, L. R. F., Jordanova, A., Berkovic, S. F., Lerche, H., De Jonghe, P., Scheffer, I. E. <strong>Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.</strong> Ann. Neurol. 66: 415-419, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19798636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19798636</a>] [<a href="https://doi.org/10.1002/ana.21724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19798636">Suls et al. (2009)</a> identified heterozygous mutations in the SLC2A1 gene in 4 (12%) of 34 patients with early-onset absence epilepsy before age 4 years. CSF glucose levels were not available from any of the patients. One of the patients had no additional abnormalities and normal development. However, clinical review of these patients after diagnosis showed that 3 had mild to moderate mental retardation, 2 had mild ataxia, and 1 had myoclonus and exercise-induced paroxysmal dyskinesia. None had microcephaly. Two patients inherited missense mutations from parents with later-onset absence epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19798636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Mullen, S. A., Suls, A., De Jonghe, P., Berkovic, S. F., Scheffer, I. E. <strong>Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.</strong> Neurology 75: 432-440, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20574033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20574033</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181eb58b4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20574033">Mullen et al. (2010)</a> reported significant intrafamilial clinical variability in 2 unrelated families with SLC2A1 mutations: 1 with 9 mutation carriers spanning 2 generations and the other with 6 mutation carriers spanning 2 generations. Of 15 patients with SLC2A1 mutations, 12 had epilepsy, most commonly absence epilepsy, with onset between ages 3 and 34 years. Eight patients had idiopathic generalized epilepsies with absence seizures, 2 had myoclonic-astatic epilepsy, and 2 had focal epilepsy. Seven patients had subtle paroxysmal exertional dyskinesia as the only manifestation, and 2 mutation carriers were unaffected. Only 3 of 15 patients had mild intellectual disabilities. <a href="#3" class="mim-tip-reference" title="Mullen, S. A., Suls, A., De Jonghe, P., Berkovic, S. F., Scheffer, I. E. <strong>Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.</strong> Neurology 75: 432-440, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20574033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20574033</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181eb58b4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20574033">Mullen et al. (2010)</a> emphasized the phenotypic overlap with common forms of idiopathic generalized epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20574033" 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="Striano, P., Weber, Y. G., Toliat, M. R., Schubert, J., Leu, C., Chaimana, R., Baulac, S., Guerrero, R., LeGuern, E., Lehesjoki, A.-E., Polvi, A., Robbiano, A., Serratosa, J. M., Guerrini, R., Nurnberg, P., Sander, T., Zara, F., Lerche, H., Marini, C. <strong>: GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.</strong> Neurology 78: 557-562, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22282645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22282645</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318247ff54" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22282645">Striano et al. (2012)</a> reported a large Italian family in which 9 individuals spanning 3 generations had various forms of epilepsy. The age at seizure onset ranged from early childhood to 23 years. All had generalized seizures, mainly typical absence seizures, and EEG showed regular, symmetric discharges of 3 to 3.5 Hz spike wave complexes. Seizures typically remitted 2 to 5 years after onset, although 1 patient later developed juvenile myoclonic epilepsy. Most showed a favorable response to pharmacologic treatment. None of the patients had other neurologic manifestations, including movement disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22282645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a European population-based study of epilepsy types associated with GLUT1, <a href="#2" class="mim-tip-reference" title="Larsen, J., Johannesen, K. M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., Kibaek, M., von Spiczak, S., Weckhuysen, S., Frangu, M., Neubauer, B. A., Uldall, P., and 16 others. <strong>The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.</strong> Epilepsia 56: e203-e208, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26537434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26537434</a>] [<a href="https://doi.org/10.1111/epi.13222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26537434">Larsen et al. (2015)</a> identified SLC2A1 mutations in 5 (10%) of 50 patients with absence epilepsy and in 1 (2.7%) of 37 patients from a group with epilepsies, intellectual disability, and/or movement disorders. Five mutations occurred de novo and 1 was inherited from an affected mother. Five patients had absence epilepsy, including 1 with epilepsy with myoclonic absences, and 1 had focal epilepsy. Seizure onset ranged from 6 weeks to 5 years of age, and 5 of the 6 patients had mild to moderate intellectual disability. Four patients became seizure-free on a ketogenic diet. SLC2A1 mutations were not found in 120 patients with myoclonic astatic epilepsy. The report confirmed the association between SLC2A1 mutations and early-onset absence epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26537434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of idiopathic generalized epilepsy in the family reported by <a href="#4" class="mim-tip-reference" title="Striano, P., Weber, Y. G., Toliat, M. R., Schubert, J., Leu, C., Chaimana, R., Baulac, S., Guerrero, R., LeGuern, E., Lehesjoki, A.-E., Polvi, A., Robbiano, A., Serratosa, J. M., Guerrini, R., Nurnberg, P., Sander, T., Zara, F., Lerche, H., Marini, C. <strong>: GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.</strong> Neurology 78: 557-562, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22282645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22282645</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318247ff54" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22282645">Striano et al. (2012)</a> was consistent with autosomal dominant inheritance and incomplete penetrance (67%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22282645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Suls, A., Mullen, S. A., Weber, Y. G., Verhaert, K., Ceulemans, B., Guerrini, R., Wuttke, T. V., Salvo-Vargas, A., Deprez, L., Claes, L. R. F., Jordanova, A., Berkovic, S. F., Lerche, H., De Jonghe, P., Scheffer, I. E. <strong>Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.</strong> Ann. Neurol. 66: 415-419, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19798636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19798636</a>] [<a href="https://doi.org/10.1002/ana.21724" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19798636">Suls et al. (2009)</a> reported a 28-year-old woman with early-onset absence epilepsy at age 3 years and generalized tonic-clonic seizures at age 7. She had normal intelligence and remission of seizures with medication at age 7. CSF glucose levels were not available. Genetic analysis identified a heterozygous mutation in the SLC2A1 gene (<a href="/entry/138140#0020">138140.0020</a>). The findings indicated that SLC2A1 mutations may contribute to relatively mild forms of epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19798636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 1 of 95 families with EIG, <a href="#4" class="mim-tip-reference" title="Striano, P., Weber, Y. G., Toliat, M. R., Schubert, J., Leu, C., Chaimana, R., Baulac, S., Guerrero, R., LeGuern, E., Lehesjoki, A.-E., Polvi, A., Robbiano, A., Serratosa, J. M., Guerrini, R., Nurnberg, P., Sander, T., Zara, F., Lerche, H., Marini, C. <strong>: GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.</strong> Neurology 78: 557-562, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22282645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22282645</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318247ff54" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22282645">Striano et al. (2012)</a> identified a heterozygous missense mutation in the SLC2A1 gene (R232C; <a href="/entry/138140#0019">138140.0019</a>). All 8 living patients with seizures in this family carried the mutation, which was also found in 4 healthy adult family members, yielding a penetrance of 67%. In vitro functional studies showed that the mutant protein was expressed at the cell surface but had mildly decreased glucose uptake (70%) compared to wildtype. The findings suggested that GLUT1 deficiency is a rare cause of typical EIG, and also expanded the phenotypic spectrum associated with mutations in the SLC2A1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22282645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By direct sequencing of the SLC2A1 gene, <a href="#1" class="mim-tip-reference" title="Arsov, T., Mullen, S. A., Rogers, S., Phillips, A. M., Lawrence, K. M., Damiano, J. A., Goldberg-Stern, H., Afawi, Z., Kivity, S., Trager, C., Petrou, S., Berkovic, S. F., Scheffer, I. E. <strong>Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.</strong> Ann. Neurol. 72: 807-815, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23280796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23280796</a>] [<a href="https://doi.org/10.1002/ana.23702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23280796">Arsov et al. (2012)</a> identified variants not previously reported in databases of normal human genetic variation in 9 of 504 probands from Israel and Australia with idiopathic generalized epilepsy and in 1 of 470 controls (p = 0.02). All variants occurred at highly conserved residues, but in vitro functional expression studies in Xenopus oocytes indicated variable effects. Three variants (see, e.g., R458W, <a href="/entry/138140#0021">138140.0021</a> and N411S, <a href="/entry/138140#0022">138140.0022</a>) caused a marked decrease in glucose transport, 4 variants caused a mild reduction in glucose transport, and 2 variants, including the 1 identified in the control individual, had no effect on glucose transport; the effect of the remaining variant could not be determined. Segregation with incomplete penetrance in families was observed for 2 of the variants that had a marked effect on protein function; the third variant occurred de novo. In contrast, segregation was not strong for variants with mild functional effects: several carriers of the mild variants were unaffected, 1 homozygous carrier was unaffected, and 1 affected individual did not carry a variant. <a href="#1" class="mim-tip-reference" title="Arsov, T., Mullen, S. A., Rogers, S., Phillips, A. M., Lawrence, K. M., Damiano, J. A., Goldberg-Stern, H., Afawi, Z., Kivity, S., Trager, C., Petrou, S., Berkovic, S. F., Scheffer, I. E. <strong>Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.</strong> Ann. Neurol. 72: 807-815, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23280796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23280796</a>] [<a href="https://doi.org/10.1002/ana.23702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23280796">Arsov et al. (2012)</a> concluded that variants in the GLUT1 gene, particularly those with mild functional effects, may act as susceptibility alleles that contribute to the multifactorial etiology of EIG in about 1% of cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23280796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Arsov, T., Mullen, S. A., Rogers, S., Phillips, A. M., Lawrence, K. M., Damiano, J. A., Goldberg-Stern, H., Afawi, Z., Kivity, S., Trager, C., Petrou, S., Berkovic, S. F., Scheffer, I. E.
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Ann. Neurol. 72: 807-815, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23280796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23280796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23280796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Larsen, J., Johannesen, K. M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., Kibaek, M., von Spiczak, S., Weckhuysen, S., Frangu, M., Neubauer, B. A., Uldall, P., and 16 others.
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<strong>The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.</strong>
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Epilepsia 56: e203-e208, 2015. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26537434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26537434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26537434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.</strong>
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Neurology 75: 432-440, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20574033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20574033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20574033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Striano, P., Weber, Y. G., Toliat, M. R., Schubert, J., Leu, C., Chaimana, R., Baulac, S., Guerrero, R., LeGuern, E., Lehesjoki, A.-E., Polvi, A., Robbiano, A., Serratosa, J. M., Guerrini, R., Nurnberg, P., Sander, T., Zara, F., Lerche, H., Marini, C.
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<strong>: GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.</strong>
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Neurology 78: 557-562, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22282645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22282645</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22282645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e318247ff54" target="_blank">Full Text</a>]
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Suls, A., Mullen, S. A., Weber, Y. G., Verhaert, K., Ceulemans, B., Guerrini, R., Wuttke, T. V., Salvo-Vargas, A., Deprez, L., Claes, L. R. F., Jordanova, A., Berkovic, S. F., Lerche, H., De Jonghe, P., Scheffer, I. E.
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<strong>Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.</strong>
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Ann. Neurol. 66: 415-419, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19798636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19798636</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19798636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.21724" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 12/16/2015
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Cassandra L. Kniffin - updated : 1/8/2014<br>Cassandra L. Kniffin - updated : 10/18/2012
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Cassandra L. Kniffin : 10/4/2012
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carol : 08/21/2017
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carol : 12/22/2015<br>carol : 12/17/2015<br>ckniffin : 12/16/2015<br>carol : 1/17/2014<br>ckniffin : 1/8/2014<br>carol : 10/22/2012<br>ckniffin : 10/18/2012<br>carol : 10/9/2012<br>carol : 10/9/2012<br>ckniffin : 10/4/2012
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<strong>#</strong> 614847
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EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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1p34.2
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{Epilepsy, idiopathic generalized, susceptibility to, 12}
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614847
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Autosomal dominant
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3
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SLC2A1
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138140
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because susceptibility to idiopathic generalized epilepsy-12 (EIG12) is conferred by heterozygous mutation in the SLC2A1 gene (138140) on chromosome 1p34.</p><p>Allelic disorders with overlapping features include GLUT1 deficiency syndrome-1 (GLUT1DS1; 606777), GLUT1 deficiency syndrome-2 (GLUT1DS2; 612126), and dystonia-9 (DYT9; 601042).</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see EIG (600669).</p>
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<strong>Clinical Features</strong>
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<p>Suls et al. (2009) identified heterozygous mutations in the SLC2A1 gene in 4 (12%) of 34 patients with early-onset absence epilepsy before age 4 years. CSF glucose levels were not available from any of the patients. One of the patients had no additional abnormalities and normal development. However, clinical review of these patients after diagnosis showed that 3 had mild to moderate mental retardation, 2 had mild ataxia, and 1 had myoclonus and exercise-induced paroxysmal dyskinesia. None had microcephaly. Two patients inherited missense mutations from parents with later-onset absence epilepsy. </p><p>Mullen et al. (2010) reported significant intrafamilial clinical variability in 2 unrelated families with SLC2A1 mutations: 1 with 9 mutation carriers spanning 2 generations and the other with 6 mutation carriers spanning 2 generations. Of 15 patients with SLC2A1 mutations, 12 had epilepsy, most commonly absence epilepsy, with onset between ages 3 and 34 years. Eight patients had idiopathic generalized epilepsies with absence seizures, 2 had myoclonic-astatic epilepsy, and 2 had focal epilepsy. Seven patients had subtle paroxysmal exertional dyskinesia as the only manifestation, and 2 mutation carriers were unaffected. Only 3 of 15 patients had mild intellectual disabilities. Mullen et al. (2010) emphasized the phenotypic overlap with common forms of idiopathic generalized epilepsy. </p><p>Striano et al. (2012) reported a large Italian family in which 9 individuals spanning 3 generations had various forms of epilepsy. The age at seizure onset ranged from early childhood to 23 years. All had generalized seizures, mainly typical absence seizures, and EEG showed regular, symmetric discharges of 3 to 3.5 Hz spike wave complexes. Seizures typically remitted 2 to 5 years after onset, although 1 patient later developed juvenile myoclonic epilepsy. Most showed a favorable response to pharmacologic treatment. None of the patients had other neurologic manifestations, including movement disorders. </p><p>In a European population-based study of epilepsy types associated with GLUT1, Larsen et al. (2015) identified SLC2A1 mutations in 5 (10%) of 50 patients with absence epilepsy and in 1 (2.7%) of 37 patients from a group with epilepsies, intellectual disability, and/or movement disorders. Five mutations occurred de novo and 1 was inherited from an affected mother. Five patients had absence epilepsy, including 1 with epilepsy with myoclonic absences, and 1 had focal epilepsy. Seizure onset ranged from 6 weeks to 5 years of age, and 5 of the 6 patients had mild to moderate intellectual disability. Four patients became seizure-free on a ketogenic diet. SLC2A1 mutations were not found in 120 patients with myoclonic astatic epilepsy. The report confirmed the association between SLC2A1 mutations and early-onset absence epilepsy. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of idiopathic generalized epilepsy in the family reported by Striano et al. (2012) was consistent with autosomal dominant inheritance and incomplete penetrance (67%). </p>
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<strong>Molecular Genetics</strong>
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<p>Suls et al. (2009) reported a 28-year-old woman with early-onset absence epilepsy at age 3 years and generalized tonic-clonic seizures at age 7. She had normal intelligence and remission of seizures with medication at age 7. CSF glucose levels were not available. Genetic analysis identified a heterozygous mutation in the SLC2A1 gene (138140.0020). The findings indicated that SLC2A1 mutations may contribute to relatively mild forms of epilepsy. </p><p>In 1 of 95 families with EIG, Striano et al. (2012) identified a heterozygous missense mutation in the SLC2A1 gene (R232C; 138140.0019). All 8 living patients with seizures in this family carried the mutation, which was also found in 4 healthy adult family members, yielding a penetrance of 67%. In vitro functional studies showed that the mutant protein was expressed at the cell surface but had mildly decreased glucose uptake (70%) compared to wildtype. The findings suggested that GLUT1 deficiency is a rare cause of typical EIG, and also expanded the phenotypic spectrum associated with mutations in the SLC2A1 gene. </p><p>By direct sequencing of the SLC2A1 gene, Arsov et al. (2012) identified variants not previously reported in databases of normal human genetic variation in 9 of 504 probands from Israel and Australia with idiopathic generalized epilepsy and in 1 of 470 controls (p = 0.02). All variants occurred at highly conserved residues, but in vitro functional expression studies in Xenopus oocytes indicated variable effects. Three variants (see, e.g., R458W, 138140.0021 and N411S, 138140.0022) caused a marked decrease in glucose transport, 4 variants caused a mild reduction in glucose transport, and 2 variants, including the 1 identified in the control individual, had no effect on glucose transport; the effect of the remaining variant could not be determined. Segregation with incomplete penetrance in families was observed for 2 of the variants that had a marked effect on protein function; the third variant occurred de novo. In contrast, segregation was not strong for variants with mild functional effects: several carriers of the mild variants were unaffected, 1 homozygous carrier was unaffected, and 1 affected individual did not carry a variant. Arsov et al. (2012) concluded that variants in the GLUT1 gene, particularly those with mild functional effects, may act as susceptibility alleles that contribute to the multifactorial etiology of EIG in about 1% of cases. </p>
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<strong>REFERENCES</strong>
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Arsov, T., Mullen, S. A., Rogers, S., Phillips, A. M., Lawrence, K. M., Damiano, J. A., Goldberg-Stern, H., Afawi, Z., Kivity, S., Trager, C., Petrou, S., Berkovic, S. F., Scheffer, I. E.
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<strong>Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.</strong>
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Ann. Neurol. 72: 807-815, 2012.
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[PubMed: 23280796]
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[Full Text: https://doi.org/10.1002/ana.23702]
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Larsen, J., Johannesen, K. M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., Kibaek, M., von Spiczak, S., Weckhuysen, S., Frangu, M., Neubauer, B. A., Uldall, P., and 16 others.
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<strong>The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.</strong>
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Epilepsia 56: e203-e208, 2015. Note: Electronic Article.
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[PubMed: 26537434]
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[Full Text: https://doi.org/10.1111/epi.13222]
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Mullen, S. A., Suls, A., De Jonghe, P., Berkovic, S. F., Scheffer, I. E.
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<strong>Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.</strong>
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Neurology 75: 432-440, 2010.
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[PubMed: 20574033]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181eb58b4]
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Striano, P., Weber, Y. G., Toliat, M. R., Schubert, J., Leu, C., Chaimana, R., Baulac, S., Guerrero, R., LeGuern, E., Lehesjoki, A.-E., Polvi, A., Robbiano, A., Serratosa, J. M., Guerrini, R., Nurnberg, P., Sander, T., Zara, F., Lerche, H., Marini, C.
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<strong>: GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.</strong>
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Neurology 78: 557-562, 2012.
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[PubMed: 22282645]
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[Full Text: https://doi.org/10.1212/WNL.0b013e318247ff54]
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Suls, A., Mullen, S. A., Weber, Y. G., Verhaert, K., Ceulemans, B., Guerrini, R., Wuttke, T. V., Salvo-Vargas, A., Deprez, L., Claes, L. R. F., Jordanova, A., Berkovic, S. F., Lerche, H., De Jonghe, P., Scheffer, I. E.
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<strong>Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.</strong>
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Ann. Neurol. 66: 415-419, 2009.
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[PubMed: 19798636]
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[Full Text: https://doi.org/10.1002/ana.21724]
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Contributors:
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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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Cassandra L. Kniffin - updated : 12/16/2015<br>Cassandra L. Kniffin - updated : 1/8/2014<br>Cassandra L. Kniffin - updated : 10/18/2012
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Creation Date:
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Cassandra L. Kniffin : 10/4/2012
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carol : 08/21/2017<br>carol : 12/22/2015<br>carol : 12/17/2015<br>ckniffin : 12/16/2015<br>carol : 1/17/2014<br>ckniffin : 1/8/2014<br>carol : 10/22/2012<br>ckniffin : 10/18/2012<br>carol : 10/9/2012<br>carol : 10/9/2012<br>ckniffin : 10/4/2012
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