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Entry
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- #607208 - DRAVET SYNDROME; DRVT
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- OMIM
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<p>
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<span class="h4">#607208</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/607208"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS308350"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</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="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=DRAVET SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." 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.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10307&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1318/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2332" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/scn1a" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607208[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33069" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080422" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/607208" 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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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 230437002<br />
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<strong>ICD10CM:</strong> G40.83, G40.834<br />
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<strong>ORPHA:</strong> 33069<br />
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<strong>DO:</strong> 0080422<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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607208
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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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DRAVET SYNDROME; DRVT
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A; DEE6A<br />
|
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6<br />
|
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SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<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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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/2/740?start=-3&limit=10&highlight=740">
|
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2q24.3
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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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Dravet syndrome
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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/607208"> 607208 </a>
|
|
</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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SCN1A
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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/182389"> 182389 </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>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/607208" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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/PS308350" 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">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/607208" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607208" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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 />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<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">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<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>
|
|
</div>
|
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|
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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> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Acquired microcephaly (in severe cases) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253130001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253130001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431352</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005484" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005484</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005484" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005484</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cortical visual impairment (in severe cases) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413924001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413924001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432141000124105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432141000124105</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4048268&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4048268</a>, <a href="https://bioportal.bioontology.org/search?q=C3810365&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810365</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100704</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100704</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Generalized clonic or tonic-clonic seizures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846619</a>]</span><br /> -
|
|
Unilateral clonic seizures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846620</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006813" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006813</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006813" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006813</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192991000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192991000</a>]</span><br /> -
|
|
Absence seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79631006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79631006</a>]</span> <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>, <a href="https://bioportal.bioontology.org/search?q=C0014553&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014553</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> <span class="mim-feature-ids hidden">[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 /> -
|
|
Complex partial seizures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002384</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002384</a>]</span><br /> -
|
|
Myoclonic seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1208991001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1208991001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4317123&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317123</a>, <a href="https://bioportal.bioontology.org/search?q=C0014550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014550</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032794</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032794</a>]</span><br /> -
|
|
Multiple seizure types <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4015120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4015120</a>]</span><br /> -
|
|
Delayed psychomotor development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Impaired intellectual development, variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5195405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5195405</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 /> -
|
|
Developmental regression (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/609225004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">609225004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836830</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002376</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002376</a>]</span><br /> -
|
|
Deterioration of cognitive function <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436099&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436099</a>]</span><br /> -
|
|
Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
|
|
Status epilepticus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230456007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230456007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038220</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002133</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002133</a>]</span><br /> -
|
|
Generalized spike or polyspike waves and focal spikes seen on EEG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436100</a>]</span><br /> -
|
|
Migrating focal or multifocal origin seizures (in severe cases) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5436101&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5436101</a>]</span><br /> -
|
|
Cerebral atrophy (in severe cases) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</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">
|
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<strong> MISCELLANEOUS </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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|
|
- Phenotypic variability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
|
|
Onset in first year of life <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span><br /> -
|
|
EEG may be normal at first<br /> -
|
|
Psychomotor delay usually becomes apparent around 2 years of age<br /> -
|
|
Psychomotor delay may be apparent at onset of seizures<br /> -
|
|
May be induced by fever or hot bath<br /> -
|
|
Seizures are refractory to medical therapy<br /> -
|
|
De novo mutation (in most cases) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2985439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2985439</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">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the sodium voltage-gated channel, alpha subunit 1 gene (SCN1A, <a href="/entry/182389#0007">182389.0007</a>)<br />
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|
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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 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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|
|
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|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Developmental and epileptic encephalopathy
|
|
- <a href="/phenotypicSeries/PS308350">PS308350</a>
|
|
- 118 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/1/523?start=-3&limit=10&highlight=523"> 1p34.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615476"> Developmental and epileptic encephalopathy 18 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615476"> 615476 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615463"> SZT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615463"> 615463 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/528?start=-3&limit=10&highlight=528"> 1p34.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615006"> Developmental and epileptic encephalopathy 15 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615006"> 615006 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606494"> ST3GAL3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606494"> 606494 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/642?start=-3&limit=10&highlight=642"> 1p32.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618437"> Developmental and epileptic encephalopathy 75 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618437"> 618437 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612036"> PARS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612036"> 612036 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/674?start=-3&limit=10&highlight=674"> 1p31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615859"> Developmental and epileptic encephalopathy 23 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615859"> 615859 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615730"> DOCK7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615730"> 615730 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/901?start=-3&limit=10&highlight=901"> 1p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616366"> Developmental and epileptic encephalopathy 32 </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/616366"> 616366 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176262"> KCNA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176262"> 176262 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1056?start=-3&limit=10&highlight=1056"> 1q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620772"> Developmental and epileptic encephalopathy 113 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620772"> 620772 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/185860"> SV2A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/185860"> 185860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1310?start=-3&limit=10&highlight=1310"> 1q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619605"> Developmental and epileptic encephalopathy 98 </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/619605"> 619605 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182340"> ATP1A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182340"> 182340 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1476?start=-3&limit=10&highlight=1476"> 1q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618285"> Developmental and epileptic encephalopathy 69 </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/618285"> 618285 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601013"> CACNA1E </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601013"> 601013 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1477?start=-3&limit=10&highlight=1477"> 1q25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620806"> Developmental and epileptic encephalopathy 116 </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/620806"> 620806 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138290"> GLUL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138290"> 138290 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1527?start=-3&limit=10&highlight=1527"> 1q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617771"> Developmental and epileptic encephalopathy 57 </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/617771"> 617771 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610044"> KCNT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610044"> 610044 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1742?start=-3&limit=10&highlight=1742"> 1q42.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619777"> Developmental and epileptic encephalopathy 100 </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/619777"> 619777 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609100"> FBXO28 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609100"> 609100 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1796?start=-3&limit=10&highlight=1796"> 1q42.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617020"> Developmental and epileptic encephalopathy 38 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617020"> 617020 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611647"> ARV1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611647"> 611647 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1851?start=-3&limit=10&highlight=1851"> 1q44 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617391"> Developmental and epileptic encephalopathy 54 </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/617391"> 617391 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602869"> HNRNPU </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602869"> 602869 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/126?start=-3&limit=10&highlight=126"> 2p23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616457"> Developmental and epileptic encephalopathy 50 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616457"> 616457 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114010"> CAD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114010"> 114010 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/291?start=-3&limit=10&highlight=291"> 2p15 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618959"> ?Developmental and epileptic encephalopathy 88 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618959"> 618959 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154200"> MDH1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154200"> 154200 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/292?start=-3&limit=10&highlight=292"> 2p15 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618744"> Developmental and epileptic encephalopathy 83 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618744"> 618744 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191760"> UGP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191760"> 191760 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/735?start=-3&limit=10&highlight=735"> 2q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617938"> Developmental and epileptic encephalopathy 62 </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/617938"> 617938 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182391"> SCN3A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182391"> 182391 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/736?start=-3&limit=10&highlight=736"> 2q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613721"> Developmental and epileptic encephalopathy 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/613721"> 613721 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182390"> SCN2A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182390"> 182390 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/740?start=-3&limit=10&highlight=740"> 2q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619317"> Developmental and epileptic encephalopathy 6B, non-Dravet </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/619317"> 619317 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182389"> SCN1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182389"> 182389 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/740?start=-3&limit=10&highlight=740"> 2q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607208"> Dravet syndrome </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/607208"> 607208 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182389"> SCN1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182389"> 182389 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/767?start=-3&limit=10&highlight=767"> 2q31.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619124"> Developmental and epileptic encephalopathy 89 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619124"> 619124 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605363"> GAD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605363"> 605363 </a>
|
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</span>
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/774?start=-3&limit=10&highlight=774"> 2q31.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612949"> Developmental and epileptic encephalopathy 39 </a>
|
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</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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612949"> 612949 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603667"> SLC25A12 </a>
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603667"> 603667 </a>
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</span>
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</td>
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</tr>
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|
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|
<tr>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/871?start=-3&limit=10&highlight=871"> 2q32.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618328"> Developmental and epileptic encephalopathy 71 </a>
|
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</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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618328"> 618328 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138280"> GLS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138280"> 138280 </a>
|
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</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/200?start=-3&limit=10&highlight=200"> 3p22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618201"> Developmental and epileptic encephalopathy 68 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618201"> 618201 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608112"> TRAK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608112"> 608112 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/296?start=-3&limit=10&highlight=296"> 3p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618910"> ?Developmental and epileptic encephalopathy 86 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618910"> 618910 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618904"> DALRD3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618904"> 618904 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/331?start=-3&limit=10&highlight=331"> 3p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619881"> Developmental and epileptic encephalopathy 102 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619881"> 619881 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604437"> SLC38A3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604437"> 604437 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/558?start=-3&limit=10&highlight=558"> 3q13.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618012"> Developmental and epileptic encephalopathy 93 </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/618012"> 618012 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607027"> ATP6V1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607027"> 607027 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/688?start=-3&limit=10&highlight=688"> 3q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617132"> Developmental and epileptic encephalopathy 44 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617132"> 617132 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610552"> UBA5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610552"> 610552 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/775?start=-3&limit=10&highlight=775"> 3q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618379"> Developmental and epileptic encephalopathy 73 </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/618379"> 618379 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609247"> RNF13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609247"> 609247 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/968?start=-3&limit=10&highlight=968"> 3q28-q29 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617166"> Developmental and epileptic encephalopathy 47 </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/617166"> 617166 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601513"> FGF12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601513"> 601513 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/17?start=-3&limit=10&highlight=17"> 4p16.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617976"> Developmental and epileptic encephalopathy 63 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617976"> 617976 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605032"> CPLX1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605032"> 605032 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/162?start=-3&limit=10&highlight=162"> 4p14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618792"> Developmental and epileptic encephalopathy 84 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618792"> 618792 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603370"> UGDH </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603370"> 603370 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/184?start=-3&limit=10&highlight=184"> 4p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617065"> ?Developmental and epileptic encephalopathy 40 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617065"> 617065 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617064"> GUF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617064"> 617064 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/187?start=-3&limit=10&highlight=187"> 4p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618557"> Developmental and epileptic encephalopathy 78 </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/618557"> 618557 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137140"> GABRA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137140"> 137140 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/190?start=-3&limit=10&highlight=190"> 4p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617153"> Developmental and epileptic encephalopathy 45 </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/617153"> 617153 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137190"> GABRB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137190"> 137190 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/446?start=-3&limit=10&highlight=446"> 4q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617711"> Developmental and epileptic encephalopathy 91 </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/617711"> 617711 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114105"> PPP3CA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114105"> 114105 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/719?start=-3&limit=10&highlight=719"> 4q35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620028"> Developmental and epileptic encephalopathy 106 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620028"> 620028 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611482"> UFSP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611482"> 611482 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/149?start=-3&limit=10&highlight=149"> 5p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615871"> Developmental and epileptic encephalopathy 24 </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/615871"> 615871 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602780"> HCN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602780"> 602780 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/711?start=-3&limit=10&highlight=711"> 5q33.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618008"> Developmental and epileptic encephalopathy 65 </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/618008"> 618008 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606323"> CYFIP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606323"> 606323 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/733?start=-3&limit=10&highlight=733"> 5q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617829"> Developmental and epileptic encephalopathy 92 </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/617829"> 617829 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600232"> GABRB2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600232"> 600232 </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/615744"> Developmental and epileptic encephalopathy 19 </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/615744"> 615744 </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/5/736?start=-3&limit=10&highlight=736"> 5q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618396"> Developmental and epileptic encephalopathy 74 </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/618396"> 618396 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137164"> GABRG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137164"> 137164 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/66?start=-3&limit=10&highlight=66"> 6p24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618298"> Developmental and epileptic encephalopathy 70 </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/618298"> 618298 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608723"> PHACTR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608723"> 608723 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/507?start=-3&limit=10&highlight=507"> 6p21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617929"> Developmental and epileptic encephalopathy 60 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617929"> 617929 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610774"> CNPY3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610774"> 610774 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/775?start=-3&limit=10&highlight=775"> 6q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618916"> Developmental and epileptic encephalopathy 87 </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/618916"> 618916 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614720"> CDK19 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614720"> 614720 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/354?start=-3&limit=10&highlight=354"> 7q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617339"> Developmental and epileptic encephalopathy 51 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617339"> 617339 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154100"> MDH2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154100"> 154100 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/356?start=-3&limit=10&highlight=356"> 7q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617665"> Developmental and epileptic encephalopathy 56 </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/617665"> 617665 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605356"> YWHAG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
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<a href="/entry/605356"> 605356 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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|
|
<a href="/geneMap/7/377?start=-3&limit=10&highlight=377"> 7q21.11 </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/620149"> Developmental and epileptic encephalopathy 110 </a>
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</span>
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</td>
|
|
<td>
|
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<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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620149"> 620149 </a>
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/114204"> CACNA2D1 </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/114204"> 114204 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/393?start=-3&limit=10&highlight=393"> 7q21.12 </a>
|
|
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|
</span>
|
|
</td>
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/617933"> Developmental and epileptic encephalopathy 61 </a>
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</span>
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</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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617933"> 617933 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603709"> ADAM22 </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/603709"> 603709 </a>
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
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<span class="mim-font">
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|
<a href="/geneMap/7/511?start=-3&limit=10&highlight=511"> 7q22.1 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618468"> Developmental and epileptic encephalopathy 76 </a>
|
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</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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618468"> 618468 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612458"> ACTL6B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612458"> 612458 </a>
|
|
</span>
|
|
</td>
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|
</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/121?start=-3&limit=10&highlight=121"> 8p21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618004"> Developmental and epileptic encephalopathy 64 </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/618004"> 618004 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607352"> RHOBTB2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607352"> 607352 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/276?start=-3&limit=10&highlight=276"> 9q21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617830"> Developmental and epileptic encephalopathy 58 </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/617830"> 617830 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600456"> NTRK2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600456"> 600456 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/351?start=-3&limit=10&highlight=351"> 9q22.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617904"> Developmental and epileptic encephalopathy 59 </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/617904"> 617904 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607340"> GABBR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607340"> 607340 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/402?start=-3&limit=10&highlight=402"> 9q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616981"> Developmental and epileptic encephalopathy 37 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616981"> 616981 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604574"> FRRS1L </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604574"> 604574 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/518?start=-3&limit=10&highlight=518"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612164"> Developmental and epileptic encephalopathy 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/612164"> 612164 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602926"> STXBP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602926"> 602926 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/537?start=-3&limit=10&highlight=537"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620352"> Developmental and epileptic encephalopathy 31B, autosomal recessive </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620352"> 620352 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602377"> DNM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602377"> 602377 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/537?start=-3&limit=10&highlight=537"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616346"> Developmental and epileptic encephalopathy 31A, autosomal dominant </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/616346"> 616346 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602377"> DNM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602377"> 602377 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/548?start=-3&limit=10&highlight=548"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613477"> Developmental and epileptic encephalopathy 5 </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/613477"> 613477 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182810"> SPTAN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182810"> 182810 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/642?start=-3&limit=10&highlight=642"> 9q34.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614959"> Developmental and epileptic encephalopathy 14 </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/614959"> 614959 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608167"> KCNT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608167"> 608167 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/683?start=-3&limit=10&highlight=683"> 9q34.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619814"> Developmental and epileptic encephalopathy 101 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619814"> 619814 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138249"> GRIN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138249"> 138249 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/49?start=-3&limit=10&highlight=49"> 10p14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619561"> Developmental and epileptic encephalopathy 97 </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/619561"> 619561 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602538"> CELF2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602538"> 602538 </a>
|
|
</span>
|
|
</td>
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</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/42?start=-3&limit=10&highlight=42"> 11p15.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609304"> Developmental and epileptic encephalopathy 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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609304"> 609304 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609302"> SLC25A22 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609302"> 609302 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/165?start=-3&limit=10&highlight=165"> 11p15.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617281"> Developmental and epileptic encephalopathy 49 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617281"> 617281 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617278"> DENND5A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617278"> 617278 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/307?start=-3&limit=10&highlight=307"> 11p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617105"> Developmental and epileptic encephalopathy 41 </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/617105"> 617105 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600300"> SLC1A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600300"> 600300 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/108?start=-3&limit=10&highlight=108"> 12p13.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615833"> Developmental and epileptic encephalopathy 21 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615833"> 615833 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611623"> NECAP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611623"> 611623 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/189?start=-3&limit=10&highlight=189"> 12p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616139"> Developmental and epileptic encephalopathy 27 </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/616139"> 616139 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138252"> GRIN2B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138252"> 138252 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/390?start=-3&limit=10&highlight=390"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614558"> Developmental and epileptic encephalopathy 13 </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/614558"> 614558 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600702"> SCN8A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600702"> 600702 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/632?start=-3&limit=10&highlight=632"> 12q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619913"> Developmental and epileptic encephalopathy 103 </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/619913"> 619913 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176256"> KCNC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176256"> 176256 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/810?start=-3&limit=10&highlight=810"> 12q24.11-q24.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618141"> Developmental and epileptic encephalopathy 67 </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/618141"> 618141 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610648"> CUX2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610648"> 610648 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/300?start=-3&limit=10&highlight=300"> 14q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620537"> Developmental and epileptic encephalopathy 112 </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/620537"> 620537 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605716"> KCNH5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605716"> 605716 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/603?start=-3&limit=10&highlight=603"> 14q32.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618067"> Developmental and epileptic encephalopathy 66 </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/618067"> 618067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610423"> PACS2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610423"> 610423 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/36?start=-3&limit=10&highlight=36"> 15q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617113"> Developmental and epileptic encephalopathy 43 </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/617113"> 617113 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137192"> GABRB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137192"> 137192 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/37?start=-3&limit=10&highlight=37"> 15q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618559"> Developmental and epileptic encephalopathy 79 </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/618559"> 618559 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137142"> GABRA5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/137142"> 137142 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/214?start=-3&limit=10&highlight=214"> 15q21.2 </a>
|
|
|
|
</span>
|
|
</td>
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<td>
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<span class="mim-font">
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<a href="/entry/618663"> Developmental and epileptic encephalopathy 81 </a>
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</span>
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</td>
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|
<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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618663"> 618663 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612186"> DMXL2 </a>
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/612186"> 612186 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/232?start=-3&limit=10&highlight=232"> 15q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618580"> Developmental and epileptic encephalopathy 80 </a>
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</span>
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</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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618580"> 618580 </a>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604122"> PIGB </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604122"> 604122 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/455?start=-3&limit=10&highlight=455"> 15q25.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617276"> Developmental and epileptic encephalopathy 48 </a>
|
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</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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617276"> 617276 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602166"> AP3B2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602166"> 602166 </a>
|
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</span>
|
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</td>
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|
</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/532?start=-3&limit=10&highlight=532"> 15q26.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615369"> Developmental and epileptic encephalopathy 94 </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/615369"> 615369 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602119"> CHD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602119"> 602119 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/31?start=-3&limit=10&highlight=31"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618548"> Multiple congenital anomalies-hypotonia-seizures syndrome 4 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618548"> 618548 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605754"> PIGQ </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605754"> 605754 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/108?start=-3&limit=10&highlight=108"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615338"> Developmental and epileptic encephalopathy 16 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615338"> 615338 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613577"> TBC1D24 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613577"> 613577 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/450?start=-3&limit=10&highlight=450"> 16q13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615473"> Developmental and epileptic encephalopathy 17 </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/615473"> 615473 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/139311"> GNAO1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/139311"> 139311 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/506?start=-3&limit=10&highlight=506"> 16q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618721"> Developmental and epileptic encephalopathy 82 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618721"> 618721 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138150"> GOT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138150"> 138150 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/603?start=-3&limit=10&highlight=603"> 16q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616339"> Developmental and epileptic encephalopathy 29 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616339"> 616339 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601065"> AARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601065"> 601065 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/666?start=-3&limit=10&highlight=666"> 16q23.1-q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616211"> Developmental and epileptic encephalopathy 28 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616211"> 616211 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605131"> WWOX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605131"> 605131 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/124?start=-3&limit=10&highlight=124"> 17p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615905"> Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615905"> 615905 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608305"> SLC13A5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608305"> 608305 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/341?start=-3&limit=10&highlight=341"> 17q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618143"> Developmental and epileptic encephalopathy 95 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618143"> 618143 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610271"> PIGS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610271"> 610271 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/485?start=-3&limit=10&highlight=485"> 17q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618374"> Developmental and epileptic encephalopathy 72 </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/618374"> 618374 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601725"> NEUROD2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601725"> 601725 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/578?start=-3&limit=10&highlight=578"> 17q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619970"> Developmental and epileptic encephalopathy 104 </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/619970"> 619970 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/192130"> ATP6V0A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/192130"> 192130 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/668?start=-3&limit=10&highlight=668"> 17q21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619340"> Developmental and epileptic encephalopathy 96 </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/619340"> 619340 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601633"> NSF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601633"> 601633 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/712?start=-3&limit=10&highlight=712"> 17q21.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620783"> Developmental and epileptic encephalopathy 115 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620783"> 620783 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610904"> SNF8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610904"> 610904 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/928?start=-3&limit=10&highlight=928"> 17q25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619983"> Developmental and epileptic encephalopathy 105 with hypopituitarism </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619983"> 619983 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605752"> HID1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605752"> 605752 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/107?start=-3&limit=10&highlight=107"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620145"> Developmental and epileptic encephalopathy 109 </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/620145"> 620145 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603619"> FZR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603619"> 603619 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/355?start=-3&limit=10&highlight=355"> 19p13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617106"> Developmental and epileptic encephalopathy 42 </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/617106"> 617106 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601011"> CACNA1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601011"> 601011 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/452?start=-3&limit=10&highlight=452"> 19p13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620115"> Developmental and epileptic encephalopathy 108 </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/620115"> 620115 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612258"> MAST3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612258"> 612258 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/567?start=-3&limit=10&highlight=567"> 19q13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617350"> Developmental and epileptic encephalopathy 52 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617350"> 617350 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600235"> SCN1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600235"> 600235 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/745?start=-3&limit=10&highlight=745"> 19q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619606"> Developmental and epileptic encephalopathy 99 </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/619606"> 619606 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182350"> ATP1A3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182350"> 182350 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/895?start=-3&limit=10&highlight=895"> 19q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617162"> Developmental and epileptic encephalopathy 46 </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/617162"> 617162 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602717"> GRIN2D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602717"> 602717 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/967?start=-3&limit=10&highlight=967"> 19q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613402"> Microcephaly, seizures, and developmental delay </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613402"> 613402 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605610"> PNKP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605610"> 605610 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/50?start=-3&limit=10&highlight=50"> 20p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616647"> Developmental and epileptic encephalopathy 35 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616647"> 616647 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147520"> ITPA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147520"> 147520 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/92?start=-3&limit=10&highlight=92"> 20p12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613722"> Developmental and epileptic encephalopathy 12 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613722"> 613722 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607120"> PLCB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607120"> 607120 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/149?start=-3&limit=10&highlight=149"> 20p11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620033"> Developmental and epileptic encephalopathy 107 </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">
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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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<a href="/entry/620033"> 620033 </a>
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611270"> NAPB </a>
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</span>
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</td>
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<td>
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|
<span class="mim-font">
|
|
<a href="/entry/611270"> 611270 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
|
|
<a href="/geneMap/20/282?start=-3&limit=10&highlight=282"> 20q11.23 </a>
|
|
|
|
</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/620774"> Developmental and epileptic encephalopathy 114 </a>
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</span>
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
|
|
</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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|
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620774"> 620774 </a>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/616440"> SLC32A1 </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/616440"> 616440 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
<a href="/geneMap/20/353?start=-3&limit=10&highlight=353"> 20q13.12 </a>
|
|
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|
</span>
|
|
</td>
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<td>
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|
<span class="mim-font">
|
|
<a href="/entry/616645"> Developmental and epileptic encephalopathy 34 </a>
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</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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616645"> 616645 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606726"> SLC12A5 </a>
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|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606726"> 606726 </a>
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</span>
|
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</td>
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</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/374?start=-3&limit=10&highlight=374"> 20q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616056"> Developmental and epileptic encephalopathy 26 </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/616056"> 616056 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600397"> KCNB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600397"> 600397 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/471?start=-3&limit=10&highlight=471"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613720"> Developmental and epileptic encephalopathy 7 </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/613720"> 613720 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602235"> KCNQ2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602235"> 602235 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/472?start=-3&limit=10&highlight=472"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616409"> Developmental and epileptic encephalopathy 33 </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/616409"> 616409 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602959"> EEF1A2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602959"> 602959 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/62?start=-3&limit=10&highlight=62"> 21q22.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617389"> Developmental and epileptic encephalopathy 53 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617389"> 617389 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604297"> SYNJ1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604297"> 604297 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/97?start=-3&limit=10&highlight=97"> 21q22.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617599"> Developmental and epileptic encephalopathy 55 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617599"> 617599 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605938"> PIGP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605938"> 605938 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/21/145?start=-3&limit=10&highlight=145"> 21q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616341"> Developmental and epileptic encephalopathy 30 </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/616341"> 616341 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605705"> SIK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605705"> 605705 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/22/192?start=-3&limit=10&highlight=192"> 22q12.2-q12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620504"> Developmental and epileptic encephalopathy 111 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620504"> 620504 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614191"> DEPDC5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614191"> 614191 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/78?start=-3&limit=10&highlight=78"> Xp22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300868"> Multiple congenital anomalies-hypotonia-seizures syndrome 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/300868"> 300868 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311770"> PIGA </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/311770"> 311770 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/99?start=-3&limit=10&highlight=99"> Xp22.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300672"> Developmental and epileptic encephalopathy 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</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/300672"> 300672 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300203"> CDKL5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300203"> 300203 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/132?start=-3&limit=10&highlight=132"> Xp21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/308350"> Developmental and epileptic encephalopathy 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/308350"> 308350 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300382"> ARX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300382"> 300382 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/262?start=-3&limit=10&highlight=262"> Xp11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300896"> Congenital disorder of glycosylation, type IIm </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Somatic mosaicism">SMo</abbr>, <abbr class="mim-tip-hint" title="X-linked dominant">XLD</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 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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<p>A number sign (#) is used with this entry because of evidence that most cases of Dravet syndrome (DRVT) are caused by heterozygous mutation in the SCN1A gene (<a href="/entry/182389">182389</a>) on chromosome 2q24. About 95% of the mutations occur de novo (<a href="#2" class="mim-tip-reference" title="Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., De Jonghe, P. <strong>De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.</strong> Am. J. Hum. Genet. 68: 1327-1332, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11359211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11359211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11359211[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11359211">Claes et al., 2001</a>; <a href="#36" class="mim-tip-reference" title="Vadlamudi, L., Dibbens, L. M., Lawrence, K. M., Iona, X., McMahon, J. M., Murrell, W., Mackay-Sim, A., Scheffer, I. E., Berkovic, S. F. <strong>Timing of de novo mutagenesis--a twin study of sodium-channel mutations.</strong> New Eng. J. Med. 363: 1335-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20879882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20879882</a>] [<a href="https://doi.org/10.1056/NEJMoa0910752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20879882">Vadlamudi et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20879882+11359211" 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>Heterozygous mutation in the SCN1A gene can also cause generalized epilepsy with febrile seizures plus (GEFS+) (GEFSP2; <a href="/entry/604403">604403</a>), which shows overlapping features, as well as the more severe disorder developmental and epileptic encephalopathy-6B (DEE6B; <a href="/entry/619317">619317</a>).</p>
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<p>Dravet syndrome, first described by <a href="#9" class="mim-tip-reference" title="Dravet, C. <strong>Les epilepsies graves de l'enfant.</strong> Vie Med 8: 543-548, 1978."None>Dravet (1978)</a>, is a clinical term for a severe neurologic disorder characterized by the onset of seizures in the first year of life after normal early development. Affected individuals usually present with generalized tonic, clonic, and tonic-clonic seizures that may initially be induced by fever and are usually refractory to treatment. Later, patients tend to manifest other seizure types, including absence, myoclonic, and partial seizures. The EEG is often normal at first, but later characteristically shows generalized spike-wave activity and other abnormalities. Psychomotor development stagnates around the second year of life, and affected individuals show subsequent mental decline, behavioral problems, and learning disabilities (summary by <a href="#8" class="mim-tip-reference" title="Dravet, C., Bureau, M., Guerrini, R., Giraud, N., Roger, J. <strong>Severe myoclonic epilepsy in infants.In: Roger, J.; Bureau, M.; Dravet, C.; Dreifuss, F. E.; Perret, A.; Wolf, P. (eds.) : Epileptic Syndromes in Infancy, Childhood, and Adolescence. (2nd ed.)</strong> London: John Libbey (pub.) 1992. Pp. 75-88."None>Dravet et al., 1992</a>; <a href="#33" class="mim-tip-reference" title="Sugawara, T., Mazaki-Miyazaki, E., Fukushima, K., Shimomura, J., Fujiwara, T., Hamano, S., Inoue, Y., Yamakawa, K. <strong>Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.</strong> Neurology 58: 1122-1124, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940708</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940708">Sugawara et al., 2002</a>; <a href="#16" class="mim-tip-reference" title="Harkin, L. A., McMahon, J. M., Iona, X., Dibbens, L., Pelekanos, J. T., Zuberi, S. M., Sadleir, L. G., Andermann, E., Gill, D., Farrell, K., Connolly, M., Stanley, T., and 12 others. <strong>The spectrum of SCN1A-related infantile epileptic encephalopathies.</strong> Brain 130: 843-852, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17347258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17347258</a>] [<a href="https://doi.org/10.1093/brain/awm002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17347258">Harkin et al., 2007</a>; <a href="#29" class="mim-tip-reference" title="Shbarou, R., Mikati, M. A. <strong>The expanding clinical spectrum of genetic pediatric epileptic encephalopathies.</strong> Semin. Pediat. Neurol. 23: 134-142, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27544470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27544470</a>] [<a href="https://doi.org/10.1016/j.spen.2016.06.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27544470">Shbarou and Mikati, 2016</a>). 'Severe myoclonic epilepsy of infancy' (SMEI) and 'migrating partial seizures of infancy' (MPSI) are other clinical manifestations of Dravet syndrome (summary by <a href="#24" class="mim-tip-reference" title="Ohmori, I., Ouchida, M., Ohtsuka, Y., Oka, E., Shimizu, K. <strong>Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.</strong> Biochem. Biophys. Res. Commun. 295: 17-23, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12083760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12083760</a>] [<a href="https://doi.org/10.1016/s0006-291x(02)00617-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12083760">Ohmori et al., 2002</a>; <a href="#1" class="mim-tip-reference" title="Carranza Rojo, D., Hamiwka, L., McMahon, J. M., Dibbens, L. M., Arsov, T., Suls, A., Stodberg, T., Kelley, K., Wirrell, E., Appleton, B., Mackay, M., Freeman, J. L., and 8 others. <strong>De novo SCN1A mutations in migrating partial seizures of infancy.</strong> Neurology 77: 380-383, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21753172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21753172</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318227046d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21753172">Carranza Rojo et al., 2011</a>; <a href="#7" class="mim-tip-reference" title="Dravet, C., Bureau, M., Dalla Bernardina, B., Guerrini, R. <strong>Severe myoclonic epilepsy in infancy (Dravet syndrome) 30 years later.</strong> Epilepsia 52 (Suppl. 2): 1-2, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21463271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21463271</a>] [<a href="https://doi.org/10.1111/j.1528-1167.2011.02993.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21463271">Dravet et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12083760+21753172+21463271+17347258+11940708+27544470" 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>Although most cases of Dravet syndrome are caused by mutation in the SCN1A gene, there are other developmental and epileptic encephalopathies (DEEs) with clinical features similar to Dravet syndrome that are caused by mutations in other genes (summary by <a href="#32" class="mim-tip-reference" title="Steel, D., Symonds, J. D., Zuberi, S. M., Brunklaus, A. <strong>Dravet syndrome and its mimics: beyond SCN1A.</strong> Epilepsia 58: 1807-1816, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28880996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28880996</a>] [<a href="https://doi.org/10.1111/epi.13889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28880996">Steel et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28880996" 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>For a discussion of genetic heterogeneity of DEE, see <a href="/entry/308350">308350</a>.</p>
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<p><a href="#2" class="mim-tip-reference" title="Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., De Jonghe, P. <strong>De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.</strong> Am. J. Hum. Genet. 68: 1327-1332, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11359211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11359211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11359211[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11359211">Claes et al. (2001)</a> reported 7 unrelated Belgian patients, who ranged in age from 2 to 10 years, with a clinical diagnosis of severe myoclonic epilepsy of infancy (SMEI). The patients developed seizures between 2 and 6 months of age after normal early development. Initial seizures were generalized, and 4 of 7 patients had seizures associated with fever. Subsequent seizures included secondary generalized tonic-clonic, myoclonic, absence, and simple and complex partial seizures. The seizures were resistant to therapy in all patients, and all subsequently showed developmental delay with impaired intellectual development. Five patients had ataxia; 1 died at 4 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11359211" 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="#13" class="mim-tip-reference" title="Fujiwara, T., Sugawara, T., Mazaki-Miyazaki, E., Takahashi, Y., Fukushima, K., Watanabe, M., Hara, K., Morikawa, T., Yagi, K., Yamakawa, K., Inoue, Y. <strong>Mutations of sodium channel alpha-subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.</strong> Brain 126: 531-546, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12566275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12566275</a>] [<a href="https://doi.org/10.1093/brain/awg053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12566275">Fujiwara et al. (2003)</a> reported 25 Japanese patients with SMEI and 10 Japanese patients with what they termed 'intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC),' which was only distinguished from SMEI by the absence of myoclonus. Twenty-two (62.8%) patients had a family history of seizures, including febrile convulsions and epilepsy consistent with GEFS+. The majority of patients had high voltage 4- to 7-Hz diffuse slow background activity on EEG. A total of 30 heterozygous mutations were identified in the SCN1A gene in this group of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12566275" 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="#19" class="mim-tip-reference" title="Jansen, F. E., Sadleir, L. G., Harkin, L. A., Vadlamudi, L., McMahon, J. M., Mulley, J. C., Scheffer, I. E., Berkovic, S. F. <strong>Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.</strong> Neurology 67: 2224-2226, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17190949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17190949</a>] [<a href="https://doi.org/10.1212/01.wnl.0000249312.73155.7d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17190949">Jansen et al. (2006)</a> reported 14 adults with Dravet syndrome who ranged in age from 18 to 47 years. All had been referred for refractory epilepsy and intellectual disability without an etiologic diagnosis. Medical history revealed seizure onset between 3 to 11 months (mean 6 months), which was associated with fever in 9 patients. During childhood, all had generalized or unilateral tonic-clonic seizures, 12 had myoclonic seizures, 11 had absence seizures, 8 had complex partial seizures, and 6 had atonic seizures. Psychomotor development slowed in all after initial normal development. Eight patients had a family history of seizures. As adults, generalized tonic-clonic seizures were the dominant type, but all other types of seizures still occurred. Ten patients had motor abnormalities, including cerebellar signs in 4, pyramidal signs in 6, and extrapyramidal signs in 4. One patient had low-average intellect, 2 had mild intellectual disability, 5 were moderately retarded, and 6 had severe impairment. Two patients lived independently but were unemployed. Genetic analysis showed that 10 patients had mutations in the SCN1A gene and 1 had a mutation in the GABRG2 gene. <a href="#19" class="mim-tip-reference" title="Jansen, F. E., Sadleir, L. G., Harkin, L. A., Vadlamudi, L., McMahon, J. M., Mulley, J. C., Scheffer, I. E., Berkovic, S. F. <strong>Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.</strong> Neurology 67: 2224-2226, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17190949/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17190949</a>] [<a href="https://doi.org/10.1212/01.wnl.0000249312.73155.7d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17190949">Jansen et al. (2006)</a> noted that the findings indicated a poor outcome for affected individuals and emphasized that correct diagnosis in adult patients requires a knowledge of early medical history. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17190949" 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="#27" class="mim-tip-reference" title="Riva, D., Vago, C., Pantaleoni, C., Bulgheroni, S., Mantegazza, M., Franceschetti, S. <strong>Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes.</strong> Am. J. Med. Genet. 149A: 2339-2345, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19764027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19764027</a>] [<a href="https://doi.org/10.1002/ajmg.a.33029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19764027">Riva et al. (2009)</a> found that 2 unrelated children with genetically confirmed Dravet syndrome had progressive neurocognitive decline when longitudinally assessed from ages 11 and 23 months to 7 and 8 years, respectively. Importantly, delayed motor, intellectual, and rational development was already apparent at the time of seizure onset in both patients. One patient had a more severe seizure phenotype consistent with an epileptic encephalopathy, with numerous myoclonic seizures occurring almost daily and more frequent occurrence of tonic-clonic seizures compared to the second patient. However, both patients showed progressive deterioration in cognitive function over time, although there were differences in specific neuropsychologic functions affected. <a href="#27" class="mim-tip-reference" title="Riva, D., Vago, C., Pantaleoni, C., Bulgheroni, S., Mantegazza, M., Franceschetti, S. <strong>Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes.</strong> Am. J. Med. Genet. 149A: 2339-2345, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19764027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19764027</a>] [<a href="https://doi.org/10.1002/ajmg.a.33029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19764027">Riva et al. (2009)</a> concluded that SCN1A mutations may play a role in early and progressive mental impairment in addition to their role in epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19764027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#16" class="mim-tip-reference" title="Harkin, L. A., McMahon, J. M., Iona, X., Dibbens, L., Pelekanos, J. T., Zuberi, S. M., Sadleir, L. G., Andermann, E., Gill, D., Farrell, K., Connolly, M., Stanley, T., and 12 others. <strong>The spectrum of SCN1A-related infantile epileptic encephalopathies.</strong> Brain 130: 843-852, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17347258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17347258</a>] [<a href="https://doi.org/10.1093/brain/awm002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17347258">Harkin et al. (2007)</a> identified SCN1A mutations in a cohort of patients with a wide spectrum of infantile epileptic encephalopathies. Among a total of 188 patients, SCN1A mutations were found in 52 (79%) of 66 with SMEI (Dravet syndrome) and in 25 (69%) of 36 with 'severe myoclonic epilepsy of infancy-borderline (SMEB),' a phenotype lacking one or more features of SMEI, such as myoclonus or generalized spike-wave discharges on EEG. In addition, SCN1A mutations were less commonly found in patients with other forms of early-onset epilepsy, characterized as cryptogenic generalized or focal epilepsy, myoclonic-astatic epilepsy, and severe infantile multifocal epilepsy (SIMFE). Although the study indicated that a broader range of seizure phenotypes is associated with SCN1A mutations, <a href="#16" class="mim-tip-reference" title="Harkin, L. A., McMahon, J. M., Iona, X., Dibbens, L., Pelekanos, J. T., Zuberi, S. M., Sadleir, L. G., Andermann, E., Gill, D., Farrell, K., Connolly, M., Stanley, T., and 12 others. <strong>The spectrum of SCN1A-related infantile epileptic encephalopathies.</strong> Brain 130: 843-852, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17347258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17347258</a>] [<a href="https://doi.org/10.1093/brain/awm002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17347258">Harkin et al. (2007)</a> noted that the nosologic boundaries between these phenotypes is blurred. There were no apparent genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17347258" 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>'Malignant migrating partial seizures of infancy' (MPSI, MMPSI) is a clinical term for a severe form of infantile epileptic encephalopathy with seizure onset between 1 day and 6 months of age. EEG studies typically show migrating focal onset progressing to multifocal onset, and seizures are refractory to therapeutic intervention. Affected individuals have developmental regression after seizure onset, severe global developmental delay, and progressive microcephaly. Early death often occurs. The phenotype is considered to be more severe than that of typical Dravet syndrome (summary by <a href="#11" class="mim-tip-reference" title="Freilich, E. R., Jones, J. M., Gaillard, W. D., Conry, J. A., Tsuchida, T. N., Reyes, C., Dib-Hajj, S., Waxman, S. G., Meisler, M. H., Pearl, P. L. <strong>Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.</strong> Arch. Neurol. 68: 665-671, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21555645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21555645</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21555645[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1001/archneurol.2011.98" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21555645">Freilich et al., 2011</a> and <a href="#1" class="mim-tip-reference" title="Carranza Rojo, D., Hamiwka, L., McMahon, J. M., Dibbens, L. M., Arsov, T., Suls, A., Stodberg, T., Kelley, K., Wirrell, E., Appleton, B., Mackay, M., Freeman, J. L., and 8 others. <strong>De novo SCN1A mutations in migrating partial seizures of infancy.</strong> Neurology 77: 380-383, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21753172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21753172</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318227046d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21753172">Carranza Rojo et al., 2011</a>). <a href="#11" class="mim-tip-reference" title="Freilich, E. R., Jones, J. M., Gaillard, W. D., Conry, J. A., Tsuchida, T. N., Reyes, C., Dib-Hajj, S., Waxman, S. G., Meisler, M. H., Pearl, P. L. <strong>Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.</strong> Arch. Neurol. 68: 665-671, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21555645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21555645</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21555645[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1001/archneurol.2011.98" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21555645">Freilich et al. (2011)</a> reported a female infant who presented clinically with MPSI associated with a heterozygous mutation in the SCN1A gene (A1669E; <a href="/entry/182389#0023">182389.0023</a>). She had a severe phenotype, with onset of seizures at age 10 weeks, progression to refractory recurrent seizures by age 5 months, status epilepticus, EEG evidence of migrating focal onset progressing to multifocal seizures, progressive microcephaly, and profound psychomotor delay. She died at age 9 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21753172+21555645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Carranza Rojo, D., Hamiwka, L., McMahon, J. M., Dibbens, L. M., Arsov, T., Suls, A., Stodberg, T., Kelley, K., Wirrell, E., Appleton, B., Mackay, M., Freeman, J. L., and 8 others. <strong>De novo SCN1A mutations in migrating partial seizures of infancy.</strong> Neurology 77: 380-383, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21753172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21753172</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318227046d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21753172">Carranza Rojo et al. (2011)</a> found that 2 of 15 unrelated infants with a clinical diagnosis of MPSI had defects in the SCN1A gene. One had a de novo missense mutation (R862G; <a href="/entry/182389#0024">182389.0024</a>) and the other had a de novo 11.06-Mb deletion of chromosome 2q24.2-q31.1 encompassing more than 40 genes that included SCN1A. The patient with the R862G mutation had onset of multifocal hemiclonic seizures at age 2 weeks with status epilepticus. She had acquired microcephaly, developmental regression, and severe intellectual disability. These reports expanded the severity of the epileptic phenotype associated with SCN1A mutations to include MPSI. Moreover, the lack of SCN1A mutations in 13 patients with a similar diagnosis by <a href="#1" class="mim-tip-reference" title="Carranza Rojo, D., Hamiwka, L., McMahon, J. M., Dibbens, L. M., Arsov, T., Suls, A., Stodberg, T., Kelley, K., Wirrell, E., Appleton, B., Mackay, M., Freeman, J. L., and 8 others. <strong>De novo SCN1A mutations in migrating partial seizures of infancy.</strong> Neurology 77: 380-383, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21753172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21753172</a>] [<a href="https://doi.org/10.1212/WNL.0b013e318227046d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21753172">Carranza Rojo et al. (2011)</a> indicated genetic heterogeneity for the MPSI entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21753172" 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>Approximately 95% of patients with Dravet syndrome have de novo heterozygous mutations, which explains the unaffected status of many sibs and parents (<a href="#36" class="mim-tip-reference" title="Vadlamudi, L., Dibbens, L. M., Lawrence, K. M., Iona, X., McMahon, J. M., Murrell, W., Mackay-Sim, A., Scheffer, I. E., Berkovic, S. F. <strong>Timing of de novo mutagenesis--a twin study of sodium-channel mutations.</strong> New Eng. J. Med. 363: 1335-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20879882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20879882</a>] [<a href="https://doi.org/10.1056/NEJMoa0910752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20879882">Vadlamudi et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20879882" 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="#12" class="mim-tip-reference" title="Fujiwara, T., Nakamura, H., Watanabe, M., Yagi, K., Seino, M., Nakamura, H. <strong>Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy.</strong> Epilepsia 31: 281-286, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2111766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2111766</a>] [<a href="https://doi.org/10.1111/j.1528-1157.1990.tb05377.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2111766">Fujiwara et al. (1990)</a> reported a pair of monozygotic male twins who both had SMEI and showed a similar phenotype with regard to seizure onset, seizure symptomatology, and EEG expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2111766" 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>Of 12 unrelated patients with Dravet syndrome, <a href="#31" class="mim-tip-reference" title="Singh, R., Andermann, E., Whitehouse, W. P. A., Harvey, A. S., Keene, D. L., Seni, M.-H., Crossland, K. M., Andermann, F., Berkovic, S. F., Scheffer, I. E. <strong>Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?</strong> Epilepsia 42: 837-844, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11488881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11488881</a>] [<a href="https://doi.org/10.1046/j.1528-1157.2001.042007837.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11488881">Singh et al. (2001)</a> found that 11 had a family history of seizures and the twelfth was the offspring of a consanguineous marriage. A total of 39 related affected individuals were identified and the phenotypes included febrile seizures, partial seizures, and several unclassified seizures. <a href="#31" class="mim-tip-reference" title="Singh, R., Andermann, E., Whitehouse, W. P. A., Harvey, A. S., Keene, D. L., Seni, M.-H., Crossland, K. M., Andermann, F., Berkovic, S. F., Scheffer, I. E. <strong>Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?</strong> Epilepsia 42: 837-844, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11488881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11488881</a>] [<a href="https://doi.org/10.1046/j.1528-1157.2001.042007837.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11488881">Singh et al. (2001)</a> suggested that Dravet syndrome is the most severe form of generalized epilepsy with febrile seizures plus (see <a href="/entry/604233">604233</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11488881" 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="#28" class="mim-tip-reference" title="Selmer, K. K., Eriksson, A.-S., Brandal, K., Egeland, T., Tallaksen, C., Undlien, D. E. <strong>Parental SCN1A mutation mosaicism in familial Dravet syndrome.</strong> Clin. Genet. 76: 398-403, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19673951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19673951</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01208.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19673951">Selmer et al. (2009)</a> reported a family of Norwegian origin in which a mother with a history of migraine was somatic mosaic for a truncating SCN1A mutation that she transmitted, through 2 different husbands, to her 2 daughters who had Dravet syndrome. The mother had attacks of migraine without aura since age 12 to 14 years; the mutation was estimated to be present in approximately 5% of the mother's blood and inferred to be present in a proportion of her germ cells. <a href="#28" class="mim-tip-reference" title="Selmer, K. K., Eriksson, A.-S., Brandal, K., Egeland, T., Tallaksen, C., Undlien, D. E. <strong>Parental SCN1A mutation mosaicism in familial Dravet syndrome.</strong> Clin. Genet. 76: 398-403, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19673951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19673951</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01208.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19673951">Selmer et al. (2009)</a> postulated that migraine in the mother may represent the mildest end of the phenotypic spectrum caused by SCN1A mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19673951" 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>Of 44 SCN1A mutations that occurred de novo in patients with Dravet syndrome, <a href="#17" class="mim-tip-reference" title="Heron, S. E., Scheffer, I. E., Iona, X., Zuberi, S. M., Birch, R., McMahon, J. M., Bruce, C. M., Berkovic, S. F., Mulley, J. C. <strong>De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.</strong> J. Med. Genet. 47: 137-141, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19589774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19589774</a>] [<a href="https://doi.org/10.1136/jmg.2008.065912" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19589774">Heron et al. (2010)</a> found that 75% were of paternal origin and 25% were of maternal origin. The cohort included 1 set of affected sibs, whose originating parent was thought to have gonadal mosaicism. The average age of parents did not differ from that of the general population. The findings indicated that de novo SCN1A mutations originated most commonly, but not exclusively, from the paternal chromosome. <a href="#17" class="mim-tip-reference" title="Heron, S. E., Scheffer, I. E., Iona, X., Zuberi, S. M., Birch, R., McMahon, J. M., Bruce, C. M., Berkovic, S. F., Mulley, J. C. <strong>De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.</strong> J. Med. Genet. 47: 137-141, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19589774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19589774</a>] [<a href="https://doi.org/10.1136/jmg.2008.065912" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19589774">Heron et al. (2010)</a> suggested that the greater frequency of paternally derived SCN1A mutations was likely due to the greater chance of mutational events because of the increased number of mitoses during spermatogenesis compared to oogenesis, with a greater susceptibility to mutagenesis of methylated DNA characteristic of sperm cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19589774" 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="Depienne, C., Trouillard, O., Gourfinkel-An, I., Saint-Martin, C., Bouteiller, D., Graber, D., Barthez-Carpentier, M.-A., Gautier, A., Villeneuve, N., Dravet, C., Livet, M.-O., Rivier-Ringenbach, C., Adam, C., Dupont, S., Baulac, S., Heron, D., Nabbout, R., LeGuern, E. <strong>Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.</strong> J. Med. Genet. 47: 404-410, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20522430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20522430</a>] [<a href="https://doi.org/10.1136/jmg.2009.074328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20522430">Depienne et al. (2010)</a> studied 19 families in which at least 1 individual had Dravet syndrome due to an inherited SCN1A mutation. In 12 cases, the transmitting parent was mosaic for the mutation, and the proportion of each mutation in parental blood cells ranged from 0.4 to 85%. The mutation was inherited from the mother in 6 cases and from the father in 6 cases. Six of the parents who were mosaic had mild features, including febrile seizures and tonic-clonic seizures, and the seizure phenotype correlated partially with increasing mutation load in blood cells. In the 6 remaining families, an SCN1A missense mutation segregated with Dravet syndrome and with autosomal dominant GEFS+ (GEFSP2; <a href="/entry/604403">604403</a>). The findings indicated that some families with SCN1A mutations show wide phenotypic variability, with Dravet syndrome at the severe end of the spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20522430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Vadlamudi, L., Dibbens, L. M., Lawrence, K. M., Iona, X., McMahon, J. M., Murrell, W., Mackay-Sim, A., Scheffer, I. E., Berkovic, S. F. <strong>Timing of de novo mutagenesis--a twin study of sodium-channel mutations.</strong> New Eng. J. Med. 363: 1335-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20879882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20879882</a>] [<a href="https://doi.org/10.1056/NEJMoa0910752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20879882">Vadlamudi et al. (2010)</a> reviewed the effect of timing of de novo mutagenesis in the SCN1A gene and described a discordant monozygotic twin pair, in which 1 SMEI-affected sib carried a heterozygous SCN1A truncation mutation. Detailed mutation analysis of various tissues from the affected twin identified a truncating SCN1A mutation (<a href="/entry/182389#0008">182389.0008</a>) in lymphocytes, hair, buccal cells, skin fibroblasts, and cell lines derived from neuroepithelium, but not in tissues taken from the unaffected twin, the parents, or an unaffected sib. No evidence of somatic mosaicism was detected in the unaffected twin or the parents. Since the mutation was found in all tissues from the affected twin but not in tissues from the unaffected twin, <a href="#36" class="mim-tip-reference" title="Vadlamudi, L., Dibbens, L. M., Lawrence, K. M., Iona, X., McMahon, J. M., Murrell, W., Mackay-Sim, A., Scheffer, I. E., Berkovic, S. F. <strong>Timing of de novo mutagenesis--a twin study of sodium-channel mutations.</strong> New Eng. J. Med. 363: 1335-1340, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20879882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20879882</a>] [<a href="https://doi.org/10.1056/NEJMoa0910752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20879882">Vadlamudi et al. (2010)</a> concluded that the SCN1A mutation occurred in the premorula stage, most likely at the 2-cell stage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20879882" 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="#34" class="mim-tip-reference" title="Suls, A., Velizarova, R., Yordanova, I., Deprez, L., Van Dyck, T., Wauters, J., Guergueltcheva, V., Claes, L. R. F., Kremensky, I., Jordanova, A., De Jonghe, P. <strong>Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.</strong> Neurology 75: 72-76, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20484682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20484682</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181e62088" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20484682">Suls et al. (2010)</a> reported a 4-generation Bulgarian family with epilepsy transmitting a heterozygous 400-kb deletion on chromosome 2q24 encompassing the SCN1A and TTC21B (<a href="/entry/612014">612014</a>) genes. The phenotype was variable, but all had onset of generalized tonic-clonic seizures around the first year of life (range, 8 to 14 months), and some had myoclonic or absence seizures. Three of 4 patients had febrile seizures in infancy. One patient had mild mental retardation, 1 had psychomotor slowing, and 1 had mental retardation from early infancy; all had reduced seizures on medication. The fourth patient died of status epilepticus at age 13 months. Thus, 2 patients had a phenotype reminiscent of Dravet syndrome, whereas the phenotype in the other 2 was more consistent with GEFS+2. The unaffected father in the first generation was found to be somatic mosaic for the deletion. <a href="#34" class="mim-tip-reference" title="Suls, A., Velizarova, R., Yordanova, I., Deprez, L., Van Dyck, T., Wauters, J., Guergueltcheva, V., Claes, L. R. F., Kremensky, I., Jordanova, A., De Jonghe, P. <strong>Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.</strong> Neurology 75: 72-76, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20484682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20484682</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181e62088" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20484682">Suls et al. (2010)</a> noted that deletions involving SCN1A usually result in Dravet syndrome, in which affected individuals cannot raise a family and thus do not transmit the mutation. The report of this family with a deletion of SCN1A in which 2 affected individuals were able to raise a family suggested the presence of genetic modifiers and showed intrafamilial variability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20484682" 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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In 7 patients with Dravet syndrome, <a href="#2" class="mim-tip-reference" title="Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., De Jonghe, P. <strong>De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.</strong> Am. J. Hum. Genet. 68: 1327-1332, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11359211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11359211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11359211[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11359211">Claes et al. (2001)</a> found heterozygous mutations in the SCN1A gene, including 3 deletions and 1 insertion that resulted in premature stop codons, a nonsense, a splice donor site, and a missense mutation; see, e.g., <a href="/entry/182389#0007">182389.0007</a>-<a href="/entry/182389#0009">182389.0009</a>. The mutations were absent in all parents, suggesting that de novo mutations are a major cause of SMEI. <a href="#2" class="mim-tip-reference" title="Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., De Jonghe, P. <strong>De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.</strong> Am. J. Hum. Genet. 68: 1327-1332, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11359211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11359211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11359211[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11359211">Claes et al. (2001)</a> noted that most of the mutations resulted in early termination of translation, producing a truncated SCN1A protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11359211" 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 14 patients, including a pair of monozygotic twins, with classic symptoms of Dravet syndrome, <a href="#33" class="mim-tip-reference" title="Sugawara, T., Mazaki-Miyazaki, E., Fukushima, K., Shimomura, J., Fujiwara, T., Hamano, S., Inoue, Y., Yamakawa, K. <strong>Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.</strong> Neurology 58: 1122-1124, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940708</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1122" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940708">Sugawara et al. (2002)</a> identified 10 heterozygous mutations in the SCN1A gene. There were 3 frameshift mutations which resulted in intragenic stop codons and truncated channels, and 7 nonsense mutations which also resulted in truncated channels. In 4 patients, no mutations were detected in either the SCN1A or SCN1B (<a href="/entry/600235">600235</a>) genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940708" 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 24 of 29 patients with Dravet syndrome, <a href="#24" class="mim-tip-reference" title="Ohmori, I., Ouchida, M., Ohtsuka, Y., Oka, E., Shimizu, K. <strong>Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.</strong> Biochem. Biophys. Res. Commun. 295: 17-23, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12083760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12083760</a>] [<a href="https://doi.org/10.1016/s0006-291x(02)00617-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12083760">Ohmori et al. (2002)</a> found heterozygous de novo mutations in SCN1A, mutations in which have been identified also in GEFS+. That mutations in the SCN1A gene can cause severe myoclonic epilepsy in infancy supports the suggestion of <a href="#31" class="mim-tip-reference" title="Singh, R., Andermann, E., Whitehouse, W. P. A., Harvey, A. S., Keene, D. L., Seni, M.-H., Crossland, K. M., Andermann, F., Berkovic, S. F., Scheffer, I. E. <strong>Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?</strong> Epilepsia 42: 837-844, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11488881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11488881</a>] [<a href="https://doi.org/10.1046/j.1528-1157.2001.042007837.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11488881">Singh et al. (2001)</a> that Dravet is part of the GEFS+ spectrum. Indeed, Dravet syndrome and GEFS+ have been observed in the same family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11488881+12083760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 93 patients with Dravet syndrome, <a href="#22" class="mim-tip-reference" title="Nabbout, R., Gennaro, E., Dalla Bernardina, B., Dulac, O., Madia, F., Bertini, E., Capovilla, G., Chiron, C., Cristofori, G., Elia, M., Fontana, E., Gaggero, R., and 15 others. <strong>Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.</strong> Neurology 60: 1961-1967, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12821740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12821740</a>] [<a href="https://doi.org/10.1212/01.wnl.0000069463.41870.2f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12821740">Nabbout et al. (2003)</a> identified 29 different mutations in the SCN1A gene in 33 patients (35%). All cases were sporadic, but a history of febrile seizures and epilepsy was found in the families of 32% and 12% of the probands, respectively. Three of the mutations were inherited from a parent. The authors concluded that the disorder is genetically heterogeneous and may also exhibit complex inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12821740" 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 7 of 10 unrelated Japanese patients with intractable childhood epilepsy with generalized tonic-clonic seizures, <a href="#13" class="mim-tip-reference" title="Fujiwara, T., Sugawara, T., Mazaki-Miyazaki, E., Takahashi, Y., Fukushima, K., Watanabe, M., Hara, K., Morikawa, T., Yagi, K., Yamakawa, K., Inoue, Y. <strong>Mutations of sodium channel alpha-subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.</strong> Brain 126: 531-546, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12566275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12566275</a>] [<a href="https://doi.org/10.1093/brain/awg053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12566275">Fujiwara et al. (2003)</a> identified mutations in the SCN1A gene (see, e.g., <a href="/entry/182389#0013">182389.0013</a>; <a href="/entry/182389#0014">182389.0014</a>). All of the mutations were missense. Two unrelated affected children had mothers with the mutation who had a phenotype consistent with GEFS+. <a href="#13" class="mim-tip-reference" title="Fujiwara, T., Sugawara, T., Mazaki-Miyazaki, E., Takahashi, Y., Fukushima, K., Watanabe, M., Hara, K., Morikawa, T., Yagi, K., Yamakawa, K., Inoue, Y. <strong>Mutations of sodium channel alpha-subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.</strong> Brain 126: 531-546, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12566275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12566275</a>] [<a href="https://doi.org/10.1093/brain/awg053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12566275">Fujiwara et al. (2003)</a> concluded that myoclonus is not a necessary feature of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12566275" 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>Using multiplex ligation-dependent probe amplification (MLPA), <a href="#21" class="mim-tip-reference" title="Mulley, J. C., Nelson, P., Guerrero, S., Dibbens, L., Iona, X., McMahon, J. M., Harkin, L., Schouten, J., Yu, S., Berkovic, S. F., Scheffer, I. E. <strong>A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.</strong> Neurology 67: 1094-1095, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17000989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17000989</a>] [<a href="https://doi.org/10.1212/01.wnl.0000237322.04338.2b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17000989">Mulley et al. (2006)</a> identified exon deletions in the SCN1A gene (<a href="/entry/182389#0018">182389.0018</a>; <a href="/entry/182389#0019">182389.0019</a>) in 2 (15%) of 13 unrelated SMEI patients who did not have point or splice site mutations in the SCN1A gene. The findings provided a new molecular mechanism for the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17000989" 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="#5" class="mim-tip-reference" title="Depienne, C., Trouillard, O., Saint-Martin, C., Gourfinkel-An, I., Bouteiller, D., Carpentier, W., Keren, B., Abert, B., Gautier, A., Baulac, S., Arzimanoglou, A., Cazeneuve, C., Nabbout, R., LeGuern, E. <strong>Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (Letter)</strong> J. Med. Genet. 46: 183-191, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18930999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18930999</a>] [<a href="https://doi.org/10.1136/jmg.2008.062323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18930999">Depienne et al. (2009)</a> identified pathogenic mutations or deletions, including 161 novel point mutations, in the SCN1A gene in 242 (73%) of 333 patients with Dravet syndrome. The most common mutations were missense (42%), and 14 patients had microrearrangements in or deletions of the gene. Thus, the disease mechanism appeared to be haploinsufficiency of the SCN1A gene. Mutations were scattered throughout the gene, and there were no apparent genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18930999" 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="#25" class="mim-tip-reference" title="Orrico, A., Galli, L., Grosso, S., Buoni, S., Pianigiani, R., Balestri, P., Sorrentino, V. <strong>Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. (Letter)</strong> Clin. Genet. 75: 579-581, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19522081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19522081</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2009.01155.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19522081">Orrico et al. (2009)</a> identified 21 mutations, including 14 novel mutations, in the SCN1A gene in 22 (14.66%) of 150 Italian pediatric probands with epilepsy. SCN1A mutations were found in 21.2% of patients with GEFS+ (<a href="/entry/604233">604233</a>) and in 75% of patients with SMEI from the overall patient cohort. Only 1 potentially pathogenic mutation was identified in the SCN1B gene (<a href="/entry/600235">600235</a>), and no mutations were found in the GABRG2 gene (<a href="/entry/137164">137164</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19522081" 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="#35" class="mim-tip-reference" title="Sun, H., Zhang, Y., Liu, X., Ma, X., Yang, Z., Qin, J., Jiang, Y., Qi, Y., Wu, X. <strong>Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.</strong> J. Hum. Genet. 55: 421-427, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20431604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20431604</a>] [<a href="https://doi.org/10.1038/jhg.2010.39" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20431604">Sun et al. (2010)</a> identified pathogenic mutations in the SCN1A gene in 49 (77.8%) of 63 Chinese probands with Dravet syndrome. The majority of mutations were truncating (61.2%). The mutations included 19 missense, 14 frameshift, 6 nonsense, and 8 splice site alterations. MLPA analysis identified deletions or duplications of SCN1A in 2 (12.5%) of 16 patients who were negative by sequencing. Forty mutations were de novo, and 1 was inherited from a mother who was mosaic for the mutation and had a phenotype consistent with GEFS+. Ten of 12 de novo mutations studied were of paternal origin, and 2 were of maternal origin. <a href="#35" class="mim-tip-reference" title="Sun, H., Zhang, Y., Liu, X., Ma, X., Yang, Z., Qin, J., Jiang, Y., Qi, Y., Wu, X. <strong>Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.</strong> J. Hum. Genet. 55: 421-427, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20431604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20431604</a>] [<a href="https://doi.org/10.1038/jhg.2010.39" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20431604">Sun et al. (2010)</a> emphasized that MLPA analysis is essential for correct diagnosis in sequencing-negative patients with Dravet syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20431604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Potential Modifier Genes</em></strong></p><p>
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<a href="#15" class="mim-tip-reference" title="Harkin, L. A., Bowser, D. N., Dibbens, L. M., Singh, R., Phillips, F., Wallace, R. H., Richards, M. C., Williams, D. A., Mulley, J. C., Berkovic, S. F., Scheffer, I. E., Petrou, S. <strong>Truncation of the GABA(A)-receptor gamma-2 subunit in a family with generalized epilepsy with febrile seizures plus.</strong> Am. J. Hum. Genet. 70: 530-536, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11748509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11748509</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11748509[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/338710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11748509">Harkin et al. (2002)</a> reported a family with GEFS+ (<a href="/entry/604233">604233</a>) caused by a heterozygous mutation in the GABRG2 gene (Q351X; <a href="/entry/137164#0003">137164.0003</a>); 1 family member had a more severe phenotype, consistent with Dravet syndrome. However, <a href="#24" class="mim-tip-reference" title="Ohmori, I., Ouchida, M., Ohtsuka, Y., Oka, E., Shimizu, K. <strong>Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.</strong> Biochem. Biophys. Res. Commun. 295: 17-23, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12083760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12083760</a>] [<a href="https://doi.org/10.1016/s0006-291x(02)00617-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12083760">Ohmori et al. (2002)</a> found no mutations of the GABRG2 gene in 29 patients with Dravet syndrome. They also found no mutations in SCN1B (<a href="/entry/600235">600235</a>), the other gene that had been related to generalized epilepsy with febrile seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11748509+12083760" 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 2 patients diagnosed with Dravet syndrome, <a href="#30" class="mim-tip-reference" title="Singh, N. A., Pappas, C., Dahle, E. J., Claes, L. R. F., Pruess, T. H., De Jonghe, P., Thompson, J., Dixon, M., Gurnett, C., Peiffer, A., White, H. S., Filloux, F., Leppert, M. F. <strong>A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.</strong> PLoS Genet. 5: e1000649, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19763161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19763161</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19763161[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pgen.1000649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19763161">Singh et al. (2009)</a> identified a heterozygous mutation in the SCN9A gene (K655R; <a href="/entry/603415#0019">603415.0019</a>); one of the patients also had a mutation in the SCN1A gene (<a href="/entry/182389">182389</a>). The K655R mutation was also identified in a patient with GEFSP7 (see <a href="/entry/604233">604233</a>). <a href="#30" class="mim-tip-reference" title="Singh, N. A., Pappas, C., Dahle, E. J., Claes, L. R. F., Pruess, T. H., De Jonghe, P., Thompson, J., Dixon, M., Gurnett, C., Peiffer, A., White, H. S., Filloux, F., Leppert, M. F. <strong>A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.</strong> PLoS Genet. 5: e1000649, 2009. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19763161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19763161</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19763161[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pgen.1000649" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19763161">Singh et al. (2009)</a> also presented evidence that the SCN9A gene on chromosome 2q24 may be a modifier of Dravet syndrome; 9 (8%) of 109 patients with Dravet syndrome were found to have an SCN9A mutation, including 6 patients who were double heterozygous for SCN9A and SCN1A mutations and 3 patients with only heterozygous SCN9A mutations, consistent with multifactorial inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19763161" 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>From an analysis of data on children with seizures from a national database, <a href="#18" class="mim-tip-reference" title="Hurst, D. L. <strong>Epidemiology of severe myoclonic epilepsy of infancy.</strong> Epilepsia 31: 397-400, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1695145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1695145</a>] [<a href="https://doi.org/10.1111/j.1528-1157.1990.tb05494.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1695145">Hurst (1990)</a> determined that the incidence of SMEI is 1 in 40,000. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1695145" 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="#37" class="mim-tip-reference" title="Yu, F. H., Mantegazza, M., Westenbroek, R. E., Robbins, C. A., Kalume, F., Burton, K. A., Spain, W. J., McKnight, G. S., Scheuer, T., Catterall, W. A. <strong>Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.</strong> Nature Neurosci. 9: 1142-1149, 2006. Note: Erratum: Nature Neurosci. 10: 134 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16921370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16921370</a>] [<a href="https://doi.org/10.1038/nn1754" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16921370">Yu et al. (2006)</a> found that Scn1a -/- mice developed severe ataxia and seizures and died on postnatal day 15. Scn1a +/- mice had spontaneous seizures and sporadic deaths beginning after postnatal day 21, with a notable dependence on genetic background. Loss of Scn1a did not change voltage-dependent activation or inactivation of sodium channels in hippocampal neurons. However, the sodium current density was substantially reduced in inhibitory interneurons of Scn1a -/- and +/- mice. The findings suggested that reduced sodium currents in GABAergic inhibitory interneurons resulting from heterozygous SCN1A mutations may cause the hyperexcitability that leads to epilepsy in patients with SMEI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16921370" 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="#23" class="mim-tip-reference" title="Oakley, J. C., Kalume, F., Yu, F. H., Scheuer, T., Catterall, W. A. <strong>Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy.</strong> Proc. Nat. Acad. Sci. 106: 3994-3999, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19234123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19234123</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19234123[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0813330106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19234123">Oakley et al. (2009)</a> generated a mouse model of SMEI by targeted heterozygous deletion of the Scn1a gene. Mutant mice developed seizures induced by elevated core body temperature, whereas wildtype mice were unaffected. In 3 age groups studied, none of postnatal day (P) 17 to 18 mutant mice had temperature-induced seizures, but nearly all P20 to P22 and P30 to P46 mutant mice developed myoclonic seizures followed by generalized seizures caused by elevated core body temperature. There was an age-related susceptibility to seizures at lower temperatures as well as a general increase in severity of seizures with increasing age. Spontaneous seizures were only observed in mice older than P32, suggesting that mutant mice become susceptible to temperature-induced seizures before spontaneous seizures. Interictal EEG spike activity was seen at normal body temperature in most P30 to P46 mutant mice, but not in P20 to P22 or P17 to P18 mutant mice, indicating that interictal epileptic activity correlates with seizure susceptibility. Most P20 to P22 mutant mice had interictal spike activity with elevated body temperature. <a href="#23" class="mim-tip-reference" title="Oakley, J. C., Kalume, F., Yu, F. H., Scheuer, T., Catterall, W. A. <strong>Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy.</strong> Proc. Nat. Acad. Sci. 106: 3994-3999, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19234123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19234123</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19234123[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0813330106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19234123">Oakley et al. (2009)</a> concluded that their results defined a critical developmental transition for susceptibility to seizures in SMEI, demonstrated that body temperature elevation alone is sufficient to induce seizures in mutation carriers, and revealed a close correspondence between human and mouse SMEI in the temperature and age dependence of seizure frequency and severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19234123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Martin, M. S., Tang, B., Papale, L. A., Yu, F. H., Catterall, W. A., Escayg, A. <strong>The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.</strong> Hum. Molec. Genet. 16: 2892-2899, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17881658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17881658</a>] [<a href="https://doi.org/10.1093/hmg/ddm248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17881658">Martin et al. (2007)</a> showed that the seizure severity of heterozygous Scn1a +/- mice (see <a href="#37" class="mim-tip-reference" title="Yu, F. H., Mantegazza, M., Westenbroek, R. E., Robbins, C. A., Kalume, F., Burton, K. A., Spain, W. J., McKnight, G. S., Scheuer, T., Catterall, W. A. <strong>Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.</strong> Nature Neurosci. 9: 1142-1149, 2006. Note: Erratum: Nature Neurosci. 10: 134 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16921370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16921370</a>] [<a href="https://doi.org/10.1038/nn1754" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16921370">Yu et al., 2006</a>), which is a mouse model for SMEI, was ameliorated by a heterozygous point mutation (med-jo) in the Scn8a gene (<a href="/entry/600702">600702</a>). Double-heterozygous Scn1a +/- and Scn8a +/(med-jo) mice had seizure thresholds that were comparable to wildtype littermates, and the Scn8a(med-jo) allele was also able to rescue the premature lethality of Scn1a +/- mice and extended the life span of Scn1a -/- mice. The authors hypothesized that the opposing effects of Scn1a and Scn8a dysfunction on seizure thresholds result from differences in the cell types that are influenced by the respective sodium channel subtypes. Scn1a mutants result in reduced sodium currents in inhibitory GABAergic interneurons of the hippocampus and cortex, whereas Scn8a mutants affect excitatory pyramidal cells of the hippocampus and cortex, suggesting that reduced excitability of these cells may underlie the elevated seizure resistance of Scn8a-mutant mice. <a href="#20" class="mim-tip-reference" title="Martin, M. S., Tang, B., Papale, L. A., Yu, F. H., Catterall, W. A., Escayg, A. <strong>The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.</strong> Hum. Molec. Genet. 16: 2892-2899, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17881658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17881658</a>] [<a href="https://doi.org/10.1093/hmg/ddm248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17881658">Martin et al. (2007)</a> suggested that their results demonstrated that genetic interactions can alter seizure severity, and supported the hypothesis that genetic modifiers, including the SCN8A gene, contribute to the clinical variability observed in SMEI and GEFS+. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17881658+16921370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Han, S., Tai, C., Westenbroek, R. E., Yu, F. H., Cheah, C. S., Potter, G. B., Rubenstein, J. L., Scheuer, T., de la Iglesia, H. O., Catterall, W. A. <strong>Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.</strong> Nature 489: 385-390, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22914087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22914087</a>] [<a href="https://doi.org/10.1038/nature11356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22914087">Han et al. (2012)</a> reported that mice with Scn1a haploinsufficiency exhibit hyperactivity, stereotyped behaviors, social interaction deficits, and impaired context-dependent spatial memory. Olfactory sensitivity is retained, but novel food odors and social odors are aversive to Scn1a +/- mice. GABAergic neurotransmission is specifically impaired by this mutation, and selective deletion of Na(v)1.1 channels in forebrain interneurons is sufficient to cause these behavioral and cognitive impairments. Remarkably, treatment with low-dose clonazepam, a positive allosteric modulator of GABA(A) receptors, completely rescued the abnormal social behaviors and deficits in fear memory in the mouse model of Dravet syndrome, demonstrating that they are caused by impaired GABAergic neurotransmission and not by neuronal damage from recurrent seizures. <a href="#14" class="mim-tip-reference" title="Han, S., Tai, C., Westenbroek, R. E., Yu, F. H., Cheah, C. S., Potter, G. B., Rubenstein, J. L., Scheuer, T., de la Iglesia, H. O., Catterall, W. A. <strong>Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.</strong> Nature 489: 385-390, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22914087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22914087</a>] [<a href="https://doi.org/10.1038/nature11356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22914087">Han et al. (2012)</a> concluded that their results demonstrated a critical role for Na(v)1.1 channels in neuropsychiatric functions and provided a potential therapeutic strategy for cognitive deficit and autism spectrum behaviors in Dravet syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22914087" 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="#26" class="mim-tip-reference" title="Renier, W. O., Renkawek, K. <strong>Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy.</strong> Epilepsia 31: 287-291, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2111767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2111767</a>] [<a href="https://doi.org/10.1111/j.1528-1157.1990.tb05378.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2111767">Renier and Renkawek (1990)</a> reported that an autopsy of a 19-month-old boy with SMEI showed microdysgenesis of the cerebellum and cerebral cortex as well as malformation of the spinal cord. Genetic studies of this patient were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2111767" 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="#6" class="mim-tip-reference" title="Doose, H., Lunau, H., Castiglione, E., Waltz, S. <strong>Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.</strong> Neuropediatrics 29: 229-238, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9810557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9810557</a>] [<a href="https://doi.org/10.1055/s-2007-973567" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9810557">Doose et al. (1998)</a> reported a large group of patients with severe intractable epilepsy of infancy or childhood with frequent generalized tonic-clonic seizures. At onset, the disorder was characterized by prolonged febrile and afebrile seizures as the only seizure type. With advancing age, the symptomatology became increasingly polymorphic due to additional seizure types, such as complex or focal. The most common triggering feature was fever or immersion in a hot bath, and most patients had severe impairment of mental development after seizure onset. <a href="#6" class="mim-tip-reference" title="Doose, H., Lunau, H., Castiglione, E., Waltz, S. <strong>Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.</strong> Neuropediatrics 29: 229-238, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9810557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9810557</a>] [<a href="https://doi.org/10.1055/s-2007-973567" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9810557">Doose et al. (1998)</a> noted the phenotypic overlap with SMEI. Genetic studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9810557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Commission1989">Commission on Classification and Terminology of the International
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League Against Epilepsy (1989)</a>; <a href="#Engel2001" class="mim-tip-reference" title="Engel, J., Jr. <strong>A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE task force on classification and terminology.</strong> Epilepsia 42: 796-803, 2001.">Engel (2001)</a>
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Carranza Rojo, D., Hamiwka, L., McMahon, J. M., Dibbens, L. M., Arsov, T., Suls, A., Stodberg, T., Kelley, K., Wirrell, E., Appleton, B., Mackay, M., Freeman, J. L., and 8 others.
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<strong>De novo SCN1A mutations in migrating partial seizures of infancy.</strong>
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Neurology 77: 380-383, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21753172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21753172</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21753172" 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.0b013e318227046d" target="_blank">Full Text</a>]
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Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., De Jonghe, P.
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<strong>De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.</strong>
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Am. J. Hum. Genet. 68: 1327-1332, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11359211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11359211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11359211[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11359211" 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/10.1086/320609" target="_blank">Full Text</a>]
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Commission on Classification and Terminology of the International League Against Epilepsy.
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<strong>Proposal for revised classification of epilepsies and epileptic syndromes.</strong>
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Epilepsia 30: 389-399, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2502382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2502382</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2502382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1528-1157.1989.tb05316.x" target="_blank">Full Text</a>]
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Depienne, C., Trouillard, O., Gourfinkel-An, I., Saint-Martin, C., Bouteiller, D., Graber, D., Barthez-Carpentier, M.-A., Gautier, A., Villeneuve, N., Dravet, C., Livet, M.-O., Rivier-Ringenbach, C., Adam, C., Dupont, S., Baulac, S., Heron, D., Nabbout, R., LeGuern, E.
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<strong>Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.</strong>
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J. Med. Genet. 47: 404-410, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20522430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20522430</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20522430" 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/10.1136/jmg.2009.074328" target="_blank">Full Text</a>]
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Depienne, C., Trouillard, O., Saint-Martin, C., Gourfinkel-An, I., Bouteiller, D., Carpentier, W., Keren, B., Abert, B., Gautier, A., Baulac, S., Arzimanoglou, A., Cazeneuve, C., Nabbout, R., LeGuern, E.
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<strong>Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. (Letter)</strong>
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J. Med. Genet. 46: 183-191, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18930999/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18930999</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18930999" 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/10.1136/jmg.2008.062323" target="_blank">Full Text</a>]
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Doose, H., Lunau, H., Castiglione, E., Waltz, S.
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<strong>Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.</strong>
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Neuropediatrics 29: 229-238, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9810557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9810557</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9810557" 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/10.1055/s-2007-973567" target="_blank">Full Text</a>]
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Dravet, C., Bureau, M., Dalla Bernardina, B., Guerrini, R.
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<strong>Severe myoclonic epilepsy in infancy (Dravet syndrome) 30 years later.</strong>
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Epilepsia 52 (Suppl. 2): 1-2, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21463271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21463271</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21463271" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0006-291x(02)00617-4" target="_blank">Full Text</a>]
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Orrico, A., Galli, L., Grosso, S., Buoni, S., Pianigiani, R., Balestri, P., Sorrentino, V.
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[<a href="https://doi.org/10.1111/j.1399-0004.2009.01155.x" target="_blank">Full Text</a>]
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Renier, W. O., Renkawek, K.
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<strong>Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy.</strong>
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[<a href="https://doi.org/10.1111/j.1528-1157.1990.tb05378.x" target="_blank">Full Text</a>]
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<strong>Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.33029" target="_blank">Full Text</a>]
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Selmer, K. K., Eriksson, A.-S., Brandal, K., Egeland, T., Tallaksen, C., Undlien, D. E.
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<strong>Parental SCN1A mutation mosaicism in familial Dravet syndrome.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.2009.01208.x" target="_blank">Full Text</a>]
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Shbarou, R., Mikati, M. A.
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<strong>The expanding clinical spectrum of genetic pediatric epileptic encephalopathies.</strong>
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[<a href="https://doi.org/10.1016/j.spen.2016.06.002" target="_blank">Full Text</a>]
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Singh, N. A., Pappas, C., Dahle, E. J., Claes, L. R. F., Pruess, T. H., De Jonghe, P., Thompson, J., Dixon, M., Gurnett, C., Peiffer, A., White, H. S., Filloux, F., Leppert, M. F.
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<strong>A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.</strong>
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PLoS Genet. 5: e1000649, 2009. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19763161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19763161</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19763161[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19763161" 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/10.1371/journal.pgen.1000649" target="_blank">Full Text</a>]
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Singh, R., Andermann, E., Whitehouse, W. P. A., Harvey, A. S., Keene, D. L., Seni, M.-H., Crossland, K. M., Andermann, F., Berkovic, S. F., Scheffer, I. E.
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<strong>Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?</strong>
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Epilepsia 42: 837-844, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11488881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11488881</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11488881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1528-1157.2001.042007837.x" target="_blank">Full Text</a>]
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Steel, D., Symonds, J. D., Zuberi, S. M., Brunklaus, A.
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<strong>Dravet syndrome and its mimics: beyond SCN1A.</strong>
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Epilepsia 58: 1807-1816, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28880996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28880996</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28880996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/epi.13889" target="_blank">Full Text</a>]
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Sugawara, T., Mazaki-Miyazaki, E., Fukushima, K., Shimomura, J., Fujiwara, T., Hamano, S., Inoue, Y., Yamakawa, K.
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<strong>Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.</strong>
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Neurology 58: 1122-1124, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940708</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940708" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.58.7.1122" target="_blank">Full Text</a>]
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Suls, A., Velizarova, R., Yordanova, I., Deprez, L., Van Dyck, T., Wauters, J., Guergueltcheva, V., Claes, L. R. F., Kremensky, I., Jordanova, A., De Jonghe, P.
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<strong>Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.</strong>
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Neurology 75: 72-76, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20484682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20484682</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20484682" 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.0b013e3181e62088" target="_blank">Full Text</a>]
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Sun, H., Zhang, Y., Liu, X., Ma, X., Yang, Z., Qin, J., Jiang, Y., Qi, Y., Wu, X.
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<strong>Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.</strong>
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J. Hum. Genet. 55: 421-427, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20431604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20431604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20431604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Vadlamudi, L., Dibbens, L. M., Lawrence, K. M., Iona, X., McMahon, J. M., Murrell, W., Mackay-Sim, A., Scheffer, I. E., Berkovic, S. F.
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<strong>Timing of de novo mutagenesis--a twin study of sodium-channel mutations.</strong>
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New Eng. J. Med. 363: 1335-1340, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20879882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20879882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20879882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.</strong>
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Nature Neurosci. 9: 1142-1149, 2006. Note: Erratum: Nature Neurosci. 10: 134 only, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16921370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16921370</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16921370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nn1754" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 10/01/2020
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Ada Hamosh - updated : 11/1/2012<br>Cassandra L. Kniffin - updated : 10/5/2011<br>Cassandra L. Kniffin - updated : 6/21/2011<br>Cassandra L. Kniffin - updated : 2/9/2011<br>Cassandra L. Kniffin - updated : 12/3/2010<br>Cassandra L. Kniffin - updated : 10/13/2010<br>Cassandra L. Kniffin - updated : 9/30/2010<br>Cassandra L. Kniffin - updated : 8/18/2010<br>Cassandra L. Kniffin - updated : 7/7/2010<br>Cassandra L. Kniffin - updated : 6/7/2010<br>Cassandra L. Kniffin - updated : 6/1/2010<br>Cassandra L. Kniffin - updated : 10/15/2009<br>Cassandra L. Kniffin - updated : 9/22/2009<br>Cassandra L. Kniffin - updated : 9/2/2009<br>Cassandra L. Kniffin - updated : 6/17/2009<br>Cassandra L. Kniffin - updated : 6/1/2009<br>Cassandra L. Kniffin - updated : 5/18/2009<br>Cassandra L. Kniffin - updated : 12/7/2007<br>Cassandra L. Kniffin - updated : 8/2/2007<br>Cassandra L. Kniffin - updated : 6/25/2007<br>Cassandra L. Kniffin - updated : 11/14/2005<br>Cassandra L. Kniffin - updated : 9/3/2003<br>Victor A. McKusick - updated : 9/30/2002
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Cassandra L. Kniffin : 9/12/2002
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ckniffin : 05/10/2021<br>alopez : 10/13/2020<br>carol : 10/09/2020<br>ckniffin : 10/01/2020<br>carol : 07/09/2016<br>ckniffin : 4/22/2014<br>alopez : 12/4/2012<br>alopez : 11/2/2012<br>terry : 11/1/2012<br>terry : 2/2/2012<br>carol : 1/20/2012<br>carol : 1/12/2012<br>carol : 10/11/2011<br>ckniffin : 10/5/2011<br>wwang : 7/7/2011<br>ckniffin : 6/21/2011<br>carol : 2/10/2011<br>ckniffin : 2/9/2011<br>wwang : 12/7/2010<br>ckniffin : 12/3/2010<br>wwang : 10/20/2010<br>ckniffin : 10/13/2010<br>wwang : 9/30/2010<br>ckniffin : 9/30/2010<br>terry : 9/9/2010<br>wwang : 8/24/2010<br>ckniffin : 8/18/2010<br>carol : 7/30/2010<br>wwang : 7/12/2010<br>ckniffin : 7/7/2010<br>carol : 6/11/2010<br>wwang : 6/8/2010<br>ckniffin : 6/7/2010<br>wwang : 6/4/2010<br>ckniffin : 6/1/2010<br>carol : 1/29/2010<br>alopez : 1/6/2010<br>wwang : 11/13/2009<br>ckniffin : 10/15/2009<br>wwang : 10/12/2009<br>ckniffin : 9/22/2009<br>wwang : 9/10/2009<br>ckniffin : 9/2/2009<br>ckniffin : 8/4/2009<br>wwang : 7/17/2009<br>ckniffin : 6/17/2009<br>wwang : 6/9/2009<br>ckniffin : 6/1/2009<br>wwang : 6/1/2009<br>ckniffin : 5/18/2009<br>wwang : 1/8/2008<br>ckniffin : 12/7/2007<br>wwang : 8/16/2007<br>ckniffin : 8/2/2007<br>wwang : 6/29/2007<br>ckniffin : 6/25/2007<br>carol : 1/10/2006<br>carol : 11/19/2005<br>ckniffin : 11/14/2005<br>tkritzer : 9/8/2003<br>ckniffin : 9/3/2003<br>terry : 1/2/2003<br>alopez : 9/30/2002<br>alopez : 9/30/2002<br>ckniffin : 9/30/2002<br>carol : 9/23/2002<br>ckniffin : 9/23/2002
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<span class="mim-font">
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<strong>#</strong> 607208
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DRAVET SYNDROME; DRVT
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<em>Alternative titles; symbols</em>
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DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A; DEE6A<br />
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6<br />
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SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI
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<strong>SNOMEDCT:</strong> 230437002;
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<strong>ICD10CM:</strong> G40.83, G40.834;
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<strong>ORPHA:</strong> 33069;
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<strong>DO:</strong> 0080422;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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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
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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2q24.3
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Dravet syndrome
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607208
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Autosomal dominant
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3
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SCN1A
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182389
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that most cases of Dravet syndrome (DRVT) are caused by heterozygous mutation in the SCN1A gene (182389) on chromosome 2q24. About 95% of the mutations occur de novo (Claes et al., 2001; Vadlamudi et al., 2010). </p><p>Heterozygous mutation in the SCN1A gene can also cause generalized epilepsy with febrile seizures plus (GEFS+) (GEFSP2; 604403), which shows overlapping features, as well as the more severe disorder developmental and epileptic encephalopathy-6B (DEE6B; 619317).</p>
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<strong>Description</strong>
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<p>Dravet syndrome, first described by Dravet (1978), is a clinical term for a severe neurologic disorder characterized by the onset of seizures in the first year of life after normal early development. Affected individuals usually present with generalized tonic, clonic, and tonic-clonic seizures that may initially be induced by fever and are usually refractory to treatment. Later, patients tend to manifest other seizure types, including absence, myoclonic, and partial seizures. The EEG is often normal at first, but later characteristically shows generalized spike-wave activity and other abnormalities. Psychomotor development stagnates around the second year of life, and affected individuals show subsequent mental decline, behavioral problems, and learning disabilities (summary by Dravet et al., 1992; Sugawara et al., 2002; Harkin et al., 2007; Shbarou and Mikati, 2016). 'Severe myoclonic epilepsy of infancy' (SMEI) and 'migrating partial seizures of infancy' (MPSI) are other clinical manifestations of Dravet syndrome (summary by Ohmori et al., 2002; Carranza Rojo et al., 2011; Dravet et al., 2011). </p><p>Although most cases of Dravet syndrome are caused by mutation in the SCN1A gene, there are other developmental and epileptic encephalopathies (DEEs) with clinical features similar to Dravet syndrome that are caused by mutations in other genes (summary by Steel et al., 2017). </p><p>For a discussion of genetic heterogeneity of DEE, see 308350.</p>
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<strong>Clinical Features</strong>
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<p>Claes et al. (2001) reported 7 unrelated Belgian patients, who ranged in age from 2 to 10 years, with a clinical diagnosis of severe myoclonic epilepsy of infancy (SMEI). The patients developed seizures between 2 and 6 months of age after normal early development. Initial seizures were generalized, and 4 of 7 patients had seizures associated with fever. Subsequent seizures included secondary generalized tonic-clonic, myoclonic, absence, and simple and complex partial seizures. The seizures were resistant to therapy in all patients, and all subsequently showed developmental delay with impaired intellectual development. Five patients had ataxia; 1 died at 4 years of age. </p><p>Fujiwara et al. (2003) reported 25 Japanese patients with SMEI and 10 Japanese patients with what they termed 'intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC),' which was only distinguished from SMEI by the absence of myoclonus. Twenty-two (62.8%) patients had a family history of seizures, including febrile convulsions and epilepsy consistent with GEFS+. The majority of patients had high voltage 4- to 7-Hz diffuse slow background activity on EEG. A total of 30 heterozygous mutations were identified in the SCN1A gene in this group of patients. </p><p>Jansen et al. (2006) reported 14 adults with Dravet syndrome who ranged in age from 18 to 47 years. All had been referred for refractory epilepsy and intellectual disability without an etiologic diagnosis. Medical history revealed seizure onset between 3 to 11 months (mean 6 months), which was associated with fever in 9 patients. During childhood, all had generalized or unilateral tonic-clonic seizures, 12 had myoclonic seizures, 11 had absence seizures, 8 had complex partial seizures, and 6 had atonic seizures. Psychomotor development slowed in all after initial normal development. Eight patients had a family history of seizures. As adults, generalized tonic-clonic seizures were the dominant type, but all other types of seizures still occurred. Ten patients had motor abnormalities, including cerebellar signs in 4, pyramidal signs in 6, and extrapyramidal signs in 4. One patient had low-average intellect, 2 had mild intellectual disability, 5 were moderately retarded, and 6 had severe impairment. Two patients lived independently but were unemployed. Genetic analysis showed that 10 patients had mutations in the SCN1A gene and 1 had a mutation in the GABRG2 gene. Jansen et al. (2006) noted that the findings indicated a poor outcome for affected individuals and emphasized that correct diagnosis in adult patients requires a knowledge of early medical history. </p><p>Riva et al. (2009) found that 2 unrelated children with genetically confirmed Dravet syndrome had progressive neurocognitive decline when longitudinally assessed from ages 11 and 23 months to 7 and 8 years, respectively. Importantly, delayed motor, intellectual, and rational development was already apparent at the time of seizure onset in both patients. One patient had a more severe seizure phenotype consistent with an epileptic encephalopathy, with numerous myoclonic seizures occurring almost daily and more frequent occurrence of tonic-clonic seizures compared to the second patient. However, both patients showed progressive deterioration in cognitive function over time, although there were differences in specific neuropsychologic functions affected. Riva et al. (2009) concluded that SCN1A mutations may play a role in early and progressive mental impairment in addition to their role in epilepsy. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Harkin et al. (2007) identified SCN1A mutations in a cohort of patients with a wide spectrum of infantile epileptic encephalopathies. Among a total of 188 patients, SCN1A mutations were found in 52 (79%) of 66 with SMEI (Dravet syndrome) and in 25 (69%) of 36 with 'severe myoclonic epilepsy of infancy-borderline (SMEB),' a phenotype lacking one or more features of SMEI, such as myoclonus or generalized spike-wave discharges on EEG. In addition, SCN1A mutations were less commonly found in patients with other forms of early-onset epilepsy, characterized as cryptogenic generalized or focal epilepsy, myoclonic-astatic epilepsy, and severe infantile multifocal epilepsy (SIMFE). Although the study indicated that a broader range of seizure phenotypes is associated with SCN1A mutations, Harkin et al. (2007) noted that the nosologic boundaries between these phenotypes is blurred. There were no apparent genotype/phenotype correlations. </p><p>'Malignant migrating partial seizures of infancy' (MPSI, MMPSI) is a clinical term for a severe form of infantile epileptic encephalopathy with seizure onset between 1 day and 6 months of age. EEG studies typically show migrating focal onset progressing to multifocal onset, and seizures are refractory to therapeutic intervention. Affected individuals have developmental regression after seizure onset, severe global developmental delay, and progressive microcephaly. Early death often occurs. The phenotype is considered to be more severe than that of typical Dravet syndrome (summary by Freilich et al., 2011 and Carranza Rojo et al., 2011). Freilich et al. (2011) reported a female infant who presented clinically with MPSI associated with a heterozygous mutation in the SCN1A gene (A1669E; 182389.0023). She had a severe phenotype, with onset of seizures at age 10 weeks, progression to refractory recurrent seizures by age 5 months, status epilepticus, EEG evidence of migrating focal onset progressing to multifocal seizures, progressive microcephaly, and profound psychomotor delay. She died at age 9 months. </p><p>Carranza Rojo et al. (2011) found that 2 of 15 unrelated infants with a clinical diagnosis of MPSI had defects in the SCN1A gene. One had a de novo missense mutation (R862G; 182389.0024) and the other had a de novo 11.06-Mb deletion of chromosome 2q24.2-q31.1 encompassing more than 40 genes that included SCN1A. The patient with the R862G mutation had onset of multifocal hemiclonic seizures at age 2 weeks with status epilepticus. She had acquired microcephaly, developmental regression, and severe intellectual disability. These reports expanded the severity of the epileptic phenotype associated with SCN1A mutations to include MPSI. Moreover, the lack of SCN1A mutations in 13 patients with a similar diagnosis by Carranza Rojo et al. (2011) indicated genetic heterogeneity for the MPSI entity. </p>
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<strong>Inheritance</strong>
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<p>Approximately 95% of patients with Dravet syndrome have de novo heterozygous mutations, which explains the unaffected status of many sibs and parents (Vadlamudi et al., 2010). </p><p>Fujiwara et al. (1990) reported a pair of monozygotic male twins who both had SMEI and showed a similar phenotype with regard to seizure onset, seizure symptomatology, and EEG expression. </p><p>Of 12 unrelated patients with Dravet syndrome, Singh et al. (2001) found that 11 had a family history of seizures and the twelfth was the offspring of a consanguineous marriage. A total of 39 related affected individuals were identified and the phenotypes included febrile seizures, partial seizures, and several unclassified seizures. Singh et al. (2001) suggested that Dravet syndrome is the most severe form of generalized epilepsy with febrile seizures plus (see 604233). </p><p>Selmer et al. (2009) reported a family of Norwegian origin in which a mother with a history of migraine was somatic mosaic for a truncating SCN1A mutation that she transmitted, through 2 different husbands, to her 2 daughters who had Dravet syndrome. The mother had attacks of migraine without aura since age 12 to 14 years; the mutation was estimated to be present in approximately 5% of the mother's blood and inferred to be present in a proportion of her germ cells. Selmer et al. (2009) postulated that migraine in the mother may represent the mildest end of the phenotypic spectrum caused by SCN1A mutations. </p><p>Of 44 SCN1A mutations that occurred de novo in patients with Dravet syndrome, Heron et al. (2010) found that 75% were of paternal origin and 25% were of maternal origin. The cohort included 1 set of affected sibs, whose originating parent was thought to have gonadal mosaicism. The average age of parents did not differ from that of the general population. The findings indicated that de novo SCN1A mutations originated most commonly, but not exclusively, from the paternal chromosome. Heron et al. (2010) suggested that the greater frequency of paternally derived SCN1A mutations was likely due to the greater chance of mutational events because of the increased number of mitoses during spermatogenesis compared to oogenesis, with a greater susceptibility to mutagenesis of methylated DNA characteristic of sperm cells. </p><p>Depienne et al. (2010) studied 19 families in which at least 1 individual had Dravet syndrome due to an inherited SCN1A mutation. In 12 cases, the transmitting parent was mosaic for the mutation, and the proportion of each mutation in parental blood cells ranged from 0.4 to 85%. The mutation was inherited from the mother in 6 cases and from the father in 6 cases. Six of the parents who were mosaic had mild features, including febrile seizures and tonic-clonic seizures, and the seizure phenotype correlated partially with increasing mutation load in blood cells. In the 6 remaining families, an SCN1A missense mutation segregated with Dravet syndrome and with autosomal dominant GEFS+ (GEFSP2; 604403). The findings indicated that some families with SCN1A mutations show wide phenotypic variability, with Dravet syndrome at the severe end of the spectrum. </p><p>Vadlamudi et al. (2010) reviewed the effect of timing of de novo mutagenesis in the SCN1A gene and described a discordant monozygotic twin pair, in which 1 SMEI-affected sib carried a heterozygous SCN1A truncation mutation. Detailed mutation analysis of various tissues from the affected twin identified a truncating SCN1A mutation (182389.0008) in lymphocytes, hair, buccal cells, skin fibroblasts, and cell lines derived from neuroepithelium, but not in tissues taken from the unaffected twin, the parents, or an unaffected sib. No evidence of somatic mosaicism was detected in the unaffected twin or the parents. Since the mutation was found in all tissues from the affected twin but not in tissues from the unaffected twin, Vadlamudi et al. (2010) concluded that the SCN1A mutation occurred in the premorula stage, most likely at the 2-cell stage. </p>
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<strong>Cytogenetics</strong>
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<p>Suls et al. (2010) reported a 4-generation Bulgarian family with epilepsy transmitting a heterozygous 400-kb deletion on chromosome 2q24 encompassing the SCN1A and TTC21B (612014) genes. The phenotype was variable, but all had onset of generalized tonic-clonic seizures around the first year of life (range, 8 to 14 months), and some had myoclonic or absence seizures. Three of 4 patients had febrile seizures in infancy. One patient had mild mental retardation, 1 had psychomotor slowing, and 1 had mental retardation from early infancy; all had reduced seizures on medication. The fourth patient died of status epilepticus at age 13 months. Thus, 2 patients had a phenotype reminiscent of Dravet syndrome, whereas the phenotype in the other 2 was more consistent with GEFS+2. The unaffected father in the first generation was found to be somatic mosaic for the deletion. Suls et al. (2010) noted that deletions involving SCN1A usually result in Dravet syndrome, in which affected individuals cannot raise a family and thus do not transmit the mutation. The report of this family with a deletion of SCN1A in which 2 affected individuals were able to raise a family suggested the presence of genetic modifiers and showed intrafamilial variability. </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Mutations in the SCN1A Gene</em></strong></p><p>
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In 7 patients with Dravet syndrome, Claes et al. (2001) found heterozygous mutations in the SCN1A gene, including 3 deletions and 1 insertion that resulted in premature stop codons, a nonsense, a splice donor site, and a missense mutation; see, e.g., 182389.0007-182389.0009. The mutations were absent in all parents, suggesting that de novo mutations are a major cause of SMEI. Claes et al. (2001) noted that most of the mutations resulted in early termination of translation, producing a truncated SCN1A protein. </p><p>In 14 patients, including a pair of monozygotic twins, with classic symptoms of Dravet syndrome, Sugawara et al. (2002) identified 10 heterozygous mutations in the SCN1A gene. There were 3 frameshift mutations which resulted in intragenic stop codons and truncated channels, and 7 nonsense mutations which also resulted in truncated channels. In 4 patients, no mutations were detected in either the SCN1A or SCN1B (600235) genes. </p><p>In 24 of 29 patients with Dravet syndrome, Ohmori et al. (2002) found heterozygous de novo mutations in SCN1A, mutations in which have been identified also in GEFS+. That mutations in the SCN1A gene can cause severe myoclonic epilepsy in infancy supports the suggestion of Singh et al. (2001) that Dravet is part of the GEFS+ spectrum. Indeed, Dravet syndrome and GEFS+ have been observed in the same family. </p><p>Among 93 patients with Dravet syndrome, Nabbout et al. (2003) identified 29 different mutations in the SCN1A gene in 33 patients (35%). All cases were sporadic, but a history of febrile seizures and epilepsy was found in the families of 32% and 12% of the probands, respectively. Three of the mutations were inherited from a parent. The authors concluded that the disorder is genetically heterogeneous and may also exhibit complex inheritance. </p><p>In 7 of 10 unrelated Japanese patients with intractable childhood epilepsy with generalized tonic-clonic seizures, Fujiwara et al. (2003) identified mutations in the SCN1A gene (see, e.g., 182389.0013; 182389.0014). All of the mutations were missense. Two unrelated affected children had mothers with the mutation who had a phenotype consistent with GEFS+. Fujiwara et al. (2003) concluded that myoclonus is not a necessary feature of the disorder. </p><p>Using multiplex ligation-dependent probe amplification (MLPA), Mulley et al. (2006) identified exon deletions in the SCN1A gene (182389.0018; 182389.0019) in 2 (15%) of 13 unrelated SMEI patients who did not have point or splice site mutations in the SCN1A gene. The findings provided a new molecular mechanism for the disorder. </p><p>Depienne et al. (2009) identified pathogenic mutations or deletions, including 161 novel point mutations, in the SCN1A gene in 242 (73%) of 333 patients with Dravet syndrome. The most common mutations were missense (42%), and 14 patients had microrearrangements in or deletions of the gene. Thus, the disease mechanism appeared to be haploinsufficiency of the SCN1A gene. Mutations were scattered throughout the gene, and there were no apparent genotype/phenotype correlations. </p><p>Orrico et al. (2009) identified 21 mutations, including 14 novel mutations, in the SCN1A gene in 22 (14.66%) of 150 Italian pediatric probands with epilepsy. SCN1A mutations were found in 21.2% of patients with GEFS+ (604233) and in 75% of patients with SMEI from the overall patient cohort. Only 1 potentially pathogenic mutation was identified in the SCN1B gene (600235), and no mutations were found in the GABRG2 gene (137164). </p><p>Sun et al. (2010) identified pathogenic mutations in the SCN1A gene in 49 (77.8%) of 63 Chinese probands with Dravet syndrome. The majority of mutations were truncating (61.2%). The mutations included 19 missense, 14 frameshift, 6 nonsense, and 8 splice site alterations. MLPA analysis identified deletions or duplications of SCN1A in 2 (12.5%) of 16 patients who were negative by sequencing. Forty mutations were de novo, and 1 was inherited from a mother who was mosaic for the mutation and had a phenotype consistent with GEFS+. Ten of 12 de novo mutations studied were of paternal origin, and 2 were of maternal origin. Sun et al. (2010) emphasized that MLPA analysis is essential for correct diagnosis in sequencing-negative patients with Dravet syndrome. </p><p><strong><em>Potential Modifier Genes</em></strong></p><p>
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Harkin et al. (2002) reported a family with GEFS+ (604233) caused by a heterozygous mutation in the GABRG2 gene (Q351X; 137164.0003); 1 family member had a more severe phenotype, consistent with Dravet syndrome. However, Ohmori et al. (2002) found no mutations of the GABRG2 gene in 29 patients with Dravet syndrome. They also found no mutations in SCN1B (600235), the other gene that had been related to generalized epilepsy with febrile seizures. </p><p>In 2 patients diagnosed with Dravet syndrome, Singh et al. (2009) identified a heterozygous mutation in the SCN9A gene (K655R; 603415.0019); one of the patients also had a mutation in the SCN1A gene (182389). The K655R mutation was also identified in a patient with GEFSP7 (see 604233). Singh et al. (2009) also presented evidence that the SCN9A gene on chromosome 2q24 may be a modifier of Dravet syndrome; 9 (8%) of 109 patients with Dravet syndrome were found to have an SCN9A mutation, including 6 patients who were double heterozygous for SCN9A and SCN1A mutations and 3 patients with only heterozygous SCN9A mutations, consistent with multifactorial inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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<span class="mim-text-font">
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<p>From an analysis of data on children with seizures from a national database, Hurst (1990) determined that the incidence of SMEI is 1 in 40,000. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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<p>Yu et al. (2006) found that Scn1a -/- mice developed severe ataxia and seizures and died on postnatal day 15. Scn1a +/- mice had spontaneous seizures and sporadic deaths beginning after postnatal day 21, with a notable dependence on genetic background. Loss of Scn1a did not change voltage-dependent activation or inactivation of sodium channels in hippocampal neurons. However, the sodium current density was substantially reduced in inhibitory interneurons of Scn1a -/- and +/- mice. The findings suggested that reduced sodium currents in GABAergic inhibitory interneurons resulting from heterozygous SCN1A mutations may cause the hyperexcitability that leads to epilepsy in patients with SMEI. </p><p>Oakley et al. (2009) generated a mouse model of SMEI by targeted heterozygous deletion of the Scn1a gene. Mutant mice developed seizures induced by elevated core body temperature, whereas wildtype mice were unaffected. In 3 age groups studied, none of postnatal day (P) 17 to 18 mutant mice had temperature-induced seizures, but nearly all P20 to P22 and P30 to P46 mutant mice developed myoclonic seizures followed by generalized seizures caused by elevated core body temperature. There was an age-related susceptibility to seizures at lower temperatures as well as a general increase in severity of seizures with increasing age. Spontaneous seizures were only observed in mice older than P32, suggesting that mutant mice become susceptible to temperature-induced seizures before spontaneous seizures. Interictal EEG spike activity was seen at normal body temperature in most P30 to P46 mutant mice, but not in P20 to P22 or P17 to P18 mutant mice, indicating that interictal epileptic activity correlates with seizure susceptibility. Most P20 to P22 mutant mice had interictal spike activity with elevated body temperature. Oakley et al. (2009) concluded that their results defined a critical developmental transition for susceptibility to seizures in SMEI, demonstrated that body temperature elevation alone is sufficient to induce seizures in mutation carriers, and revealed a close correspondence between human and mouse SMEI in the temperature and age dependence of seizure frequency and severity. </p><p>Martin et al. (2007) showed that the seizure severity of heterozygous Scn1a +/- mice (see Yu et al., 2006), which is a mouse model for SMEI, was ameliorated by a heterozygous point mutation (med-jo) in the Scn8a gene (600702). Double-heterozygous Scn1a +/- and Scn8a +/(med-jo) mice had seizure thresholds that were comparable to wildtype littermates, and the Scn8a(med-jo) allele was also able to rescue the premature lethality of Scn1a +/- mice and extended the life span of Scn1a -/- mice. The authors hypothesized that the opposing effects of Scn1a and Scn8a dysfunction on seizure thresholds result from differences in the cell types that are influenced by the respective sodium channel subtypes. Scn1a mutants result in reduced sodium currents in inhibitory GABAergic interneurons of the hippocampus and cortex, whereas Scn8a mutants affect excitatory pyramidal cells of the hippocampus and cortex, suggesting that reduced excitability of these cells may underlie the elevated seizure resistance of Scn8a-mutant mice. Martin et al. (2007) suggested that their results demonstrated that genetic interactions can alter seizure severity, and supported the hypothesis that genetic modifiers, including the SCN8A gene, contribute to the clinical variability observed in SMEI and GEFS+. </p><p>Han et al. (2012) reported that mice with Scn1a haploinsufficiency exhibit hyperactivity, stereotyped behaviors, social interaction deficits, and impaired context-dependent spatial memory. Olfactory sensitivity is retained, but novel food odors and social odors are aversive to Scn1a +/- mice. GABAergic neurotransmission is specifically impaired by this mutation, and selective deletion of Na(v)1.1 channels in forebrain interneurons is sufficient to cause these behavioral and cognitive impairments. Remarkably, treatment with low-dose clonazepam, a positive allosteric modulator of GABA(A) receptors, completely rescued the abnormal social behaviors and deficits in fear memory in the mouse model of Dravet syndrome, demonstrating that they are caused by impaired GABAergic neurotransmission and not by neuronal damage from recurrent seizures. Han et al. (2012) concluded that their results demonstrated a critical role for Na(v)1.1 channels in neuropsychiatric functions and provided a potential therapeutic strategy for cognitive deficit and autism spectrum behaviors in Dravet syndrome. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Renier and Renkawek (1990) reported that an autopsy of a 19-month-old boy with SMEI showed microdysgenesis of the cerebellum and cerebral cortex as well as malformation of the spinal cord. Genetic studies of this patient were not performed. </p><p>Doose et al. (1998) reported a large group of patients with severe intractable epilepsy of infancy or childhood with frequent generalized tonic-clonic seizures. At onset, the disorder was characterized by prolonged febrile and afebrile seizures as the only seizure type. With advancing age, the symptomatology became increasingly polymorphic due to additional seizure types, such as complex or focal. The most common triggering feature was fever or immersion in a hot bath, and most patients had severe impairment of mental development after seizure onset. Doose et al. (1998) noted the phenotypic overlap with SMEI. Genetic studies were not performed. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Commission on Classification and Terminology of the International
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League Against Epilepsy (1989); Engel (2001)
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Harkin, L. A., McMahon, J. M., Iona, X., Dibbens, L., Pelekanos, J. T., Zuberi, S. M., Sadleir, L. G., Andermann, E., Gill, D., Farrell, K., Connolly, M., Stanley, T., and 12 others.
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Heron, S. E., Scheffer, I. E., Iona, X., Zuberi, S. M., Birch, R., McMahon, J. M., Bruce, C. M., Berkovic, S. F., Mulley, J. C.
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Hurst, D. L.
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Epilepsia 31: 397-400, 1990.
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<p class="mim-text-font">
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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