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Entry
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- #616172 - GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9
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- OMIM
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<p>
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<span class="h4">#616172</span>
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<br />
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<strong>Table of Contents</strong>
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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/616172"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS604233"> <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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</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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</h4>
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<div style="display: table-row">
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=(GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE) OR (STX1B)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10424&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://medlineplus.gov/genetics/condition/genetic-epilepsy-with-febrile-seizures-plus" 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=616172[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=36387" 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 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 class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111301" 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/616172" 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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<div><a href="https://wormbase.org/resources/disease/DOID:0111301" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</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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<a id="title" class="mim-anchor"></a>
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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>ORPHA:</strong> 36387<br />
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<strong>DO:</strong> 0111301<br />
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">ICD+</a>
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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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616172
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</span>
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</span>
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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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GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9
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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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GEFS+, TYPE 9; GEFS+9
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</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/16/374?start=-3&limit=10&highlight=374">
|
|
16p11.2
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Generalized epilepsy with febrile seizures plus, type 9
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/616172"> 616172 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<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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</td>
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<td>
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<span class="mim-font">
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STX1B
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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/601485"> 601485 </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 class="btn-group ">
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<a href="/clinicalSynopsis/616172" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS604233" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/616172" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/616172" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Seizures, febrile <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R56.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R56.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R56.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R56.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009952&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009952</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002373" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002373</a>]</span><br /> -
|
|
Seizures, afebrile <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0863106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0863106</a>]</span><br /> -
|
|
Generalized tonic-clonic seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1217136003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1217136003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G40.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G40.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0494475&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0494475</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002069</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025190" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025190</a>]</span><br /> -
|
|
Atonic seizures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0270846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0270846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010819</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010819</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-astatic seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230421008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230421008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G40.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G40.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0393702&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393702</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011170" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011170</a>]</span><br /> -
|
|
Multifocal discharges seen on EEG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550325</a>]</span><br /> -
|
|
Delayed psychomotor development (in some patients) <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 />
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|
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</span>
|
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</div>
|
|
</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Onset in early childhood<br /> -
|
|
Seizures tend to remit later in childhood<br /> -
|
|
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Usually favorable response to treatment<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
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</div>
|
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the syntaxin 1B gene (STX1B, <a href="/entry/601485#0001">601485.0001</a>)<br />
|
|
|
|
</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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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Epilepsy, generalized, with febrile seizures plus
|
|
- <a href="/phenotypicSeries/PS604233">PS604233</a>
|
|
- 16 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<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>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/61?start=-3&limit=10&highlight=61"> 1p36.33 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613060"> {?Generalized epilepsy with febrile seizures plus, type 5, susceptibility to} </a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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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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|
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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/613060"> 613060 </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/137163"> GABRD </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/137163"> 137163 </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/2/53?start=-3&limit=10&highlight=53"> 2p24 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609800"> Generalized epilepsy with febrile seizures plus, type 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609800"> 609800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609800"> GEFSP4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609800"> 609800 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/677?start=-3&limit=10&highlight=677"> 2q23-q24 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613863"> Generalized epilepsy with febrile seizures plus, type 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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613863"> 613863 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613863"> GEFSP7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613863"> 613863 </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/604403"> Febrile seizures, familial, 3A </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/604403"> 604403 </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/604403"> Generalized epilepsy with febrile seizures plus, type 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604403"> 604403 </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/5/149?start=-3&limit=10&highlight=149"> 5p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618482"> Generalized epilepsy with febrile seizures plus, type 10 </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/618482"> 618482 </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/5/736?start=-3&limit=10&highlight=736"> 5q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607681"> Generalized epilepsy with febrile seizures plus, type 3 </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/607681"> 607681 </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/5/736?start=-3&limit=10&highlight=736"> 5q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607681"> Febrile seizures, familial, 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607681"> 607681 </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/6/731?start=-3&limit=10&highlight=731"> 6q16.3-q22.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613828"> Generalized epilepsy with febrile seizures plus, type 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613828"> 613828 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613828"> GEFSP8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613828"> 613828 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/2?start=-3&limit=10&highlight=2"> 8p23-p21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612279"> Generalized epilepsy with febrile seizures plus, type 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612279"> 612279 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612279"> GEFSP6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612279"> 612279 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/374?start=-3&limit=10&highlight=374"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616172"> Generalized epilepsy with febrile seizures plus, type 9 </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/616172"> 616172 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601485"> STX1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601485"> 601485 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/21?start=-3&limit=10&highlight=21"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602477"> Febrile seizures, familial, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602477"> 602477 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602781"> HCN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602781"> 602781 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/21?start=-3&limit=10&highlight=21"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602477"> Generalized epilepsy with febrile seizures plus, type 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/602477"> 602477 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602781"> HCN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602781"> 602781 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/21?start=-3&limit=10&highlight=21"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602477"> {Epilepsy, idiopathic generalized, susceptibility to, 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/602477"> 602477 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602781"> HCN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602781"> 602781 </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/604233"> Generalized epilepsy with febrile seizures plus, type 1 </a>
|
|
</span>
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<p>A number sign (#) is used with this entry because of evidence that generalized epilepsy with febrile seizures plus-9 (GEFSP9) is caused by heterozygous mutation in the STX1B gene (<a href="/entry/601485">601485</a>) on chromosome 16p11.</p>
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<p>Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by <a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25362483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see <a href="/entry/604233">604233</a>.</p>
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<p><a href="#1" class="mim-tip-reference" title="Lerche, H., Weber, Y. G., Baier, H., Jurkat-Rott, K., Kraus de Camargo, O., Ludolph, A. C., Bode, H., Lehmann-Horn, F. <strong>Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.</strong> Neurology 57: 1191-1198, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11591834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11591834</a>] [<a href="https://doi.org/10.1212/wnl.57.7.1191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11591834">Lerche et al. (2001)</a> reported a large 5-generation German family in which 18 individuals experienced early-onset febrile and/or afebrile seizures, with great variability in presentation and course. <a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> provided follow-up of the family reported by <a href="#1" class="mim-tip-reference" title="Lerche, H., Weber, Y. G., Baier, H., Jurkat-Rott, K., Kraus de Camargo, O., Ludolph, A. C., Bode, H., Lehmann-Horn, F. <strong>Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.</strong> Neurology 57: 1191-1198, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11591834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11591834</a>] [<a href="https://doi.org/10.1212/wnl.57.7.1191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11591834">Lerche et al. (2001)</a>, noting that several family members with a slightly atypical phenotype who were thought to be affected did not carry the pathogenic STX1B mutation. Six individuals had the core phenotype and carried the mutation. Five patients had onset of both febrile and afebrile seizures around 2 years of age; 1 patient had only afebrile seizures. Seizure types included generalized tonic-clonic, tonic, atonic, and absence. All patients became seizure-free later in childhood. Two individuals with seizures had been diagnosed with Asperger syndrome, but neurologic and cognitive development was normal in all other patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25362483+11591834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Weber, Y. G., Jacob, M., Weber, G., Lerche, H. <strong>A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</strong> Epilepsia 49: 1959-1964, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18479394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18479394</a>] [<a href="https://doi.org/10.1111/j.1528-1167.2008.01646.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18479394">Weber et al. (2008)</a> reported a large 4-generation German family in which 8 individuals had various forms of febrile and/or afebrile seizures. Six patients had several febrile seizures between the ages of 10 months and 4 years, 5 of whom also developed afebrile seizures, either generalized tonic-clonic, atonic, or complex partial. Two patients only had afebrile atonic and generalized tonic-clonic seizures, respectively. EEG during early childhood showed multifocal and generalized discharges, but these abnormalities tended to disappear between ages 2 and 6 years, except in 1 patient whose EEG was still abnormal at age 15. All patients had a good response to treatment, and most were able to discontinue treatment later in childhood without recurrence of seizures. Neurologic examination was unremarkable in all patients, although 2 had reduced intelligence and concentration deficit. <a href="#3" class="mim-tip-reference" title="Weber, Y. G., Jacob, M., Weber, G., Lerche, H. <strong>A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</strong> Epilepsia 49: 1959-1964, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18479394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18479394</a>] [<a href="https://doi.org/10.1111/j.1528-1167.2008.01646.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18479394">Weber et al. (2008)</a> noted that the phenotype was similar to benign familial infantile seizures, but that there were some distinctive features, including later onset of seizures after 12 months of age and a high rate of febrile seizures. In a follow-up of the family reported by <a href="#3" class="mim-tip-reference" title="Weber, Y. G., Jacob, M., Weber, G., Lerche, H. <strong>A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</strong> Epilepsia 49: 1959-1964, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18479394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18479394</a>] [<a href="https://doi.org/10.1111/j.1528-1167.2008.01646.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18479394">Weber et al. (2008)</a>, <a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> noted that all affected individuals were seizure-free. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18479394+25362483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> reported a Dutch girl with GEFSP9 who developed seizures at age 10 months. She had normal psychomotor development at age 16 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25362483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> reported 3 unrelated patients with a more severe phenotype associated with mutation in or deletion of the STX1B gene. An adult Swiss patient developed generalized tonic-clonic seizures at age 3.5 years. He had speech delay and later showed moderate intellectual disability (IQ of 48), ataxia, and cerebellar atrophy. The seizures were highly pharmacoresistant. A German girl developed febrile seizures at age 13 months, severe and frequent myoclonic-astatic seizures at age 19 months, and afebrile seizures associated with status epilepticus at age 3 years. She showed global developmental delay, mild intellectual disability, and mild ataxia. An unrelated German girl, who had a deletion encompassing the STX1B gene, developed seizures consistent with myoclonic-astatic epilepsy at age 13 months after showing mild global developmental delay. At age 2 years, she had hypotonia and was developmentally delayed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25362483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of GEFSP9 in the families reported by <a href="#1" class="mim-tip-reference" title="Lerche, H., Weber, Y. G., Baier, H., Jurkat-Rott, K., Kraus de Camargo, O., Ludolph, A. C., Bode, H., Lehmann-Horn, F. <strong>Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.</strong> Neurology 57: 1191-1198, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11591834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11591834</a>] [<a href="https://doi.org/10.1212/wnl.57.7.1191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11591834">Lerche et al. (2001)</a> and <a href="#3" class="mim-tip-reference" title="Weber, Y. G., Jacob, M., Weber, G., Lerche, H. <strong>A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</strong> Epilepsia 49: 1959-1964, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18479394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18479394</a>] [<a href="https://doi.org/10.1111/j.1528-1167.2008.01646.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18479394">Weber et al. (2008)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18479394+11591834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage analysis of a large German family with early-onset febrile and afebrile seizures, <a href="#3" class="mim-tip-reference" title="Weber, Y. G., Jacob, M., Weber, G., Lerche, H. <strong>A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</strong> Epilepsia 49: 1959-1964, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18479394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18479394</a>] [<a href="https://doi.org/10.1111/j.1528-1167.2008.01646.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18479394">Weber et al. (2008)</a> found evidence suggestive of linkage to chromosome 16p11.2-q12.1 (maximum lod score of 2.1 at marker D16S411). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18479394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of the families with GEFSP9 reported by <a href="#1" class="mim-tip-reference" title="Lerche, H., Weber, Y. G., Baier, H., Jurkat-Rott, K., Kraus de Camargo, O., Ludolph, A. C., Bode, H., Lehmann-Horn, F. <strong>Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.</strong> Neurology 57: 1191-1198, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11591834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11591834</a>] [<a href="https://doi.org/10.1212/wnl.57.7.1191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11591834">Lerche et al. (2001)</a> and <a href="#3" class="mim-tip-reference" title="Weber, Y. G., Jacob, M., Weber, G., Lerche, H. <strong>A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</strong> Epilepsia 49: 1959-1964, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18479394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18479394</a>] [<a href="https://doi.org/10.1111/j.1528-1167.2008.01646.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18479394">Weber et al. (2008)</a>, <a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> identified different heterozygous truncating mutations in the STX1B gene (<a href="/entry/601485#0001">601485.0001</a> and <a href="/entry/601485#0002">601485.0002</a>, respectively). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families. Sequencing of the GEFSP9 gene in 3 additional cohorts of patients with seizures identified a mutation in 1 of 299 probands with febrile seizures or epileptic encephalopathies; in 1 of 81 adults with various forms of epilepsy and intellectual disability; and in 1 of 68 patients with epileptic encephalopathies. A de novo microdeletion encompassing the STX1B gene was found in a further patient with myoclonic-astatic epilepsy. <a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> noted the wide phenotypic spectrum of epilepsy associated with STX1B mutations, ranging from incomplete penetrance without symptoms to simple febrile seizures to severe epileptic encephalopathies. The findings implicated the STX1B gene and the presynaptic release machinery in fever-associated epilepsy syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25362483+18479394+11591834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others. <strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong> Nature Genet. 46: 1327-1332, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>] [<a href="https://doi.org/10.1038/ng.3130" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25362483">Schubert et al. (2014)</a> found that morpholino knockout of the stx1b gene in zebrafish resulted in abnormal episodic behavior, including repetitive fin fluttering, increased orofacial movements, and myoclonus-like jerks, as well as abnormal spontaneous epileptiform brain activity with polyspiking discharges and high-frequency oscillations. Elevation of temperature increased the occurrence of epileptiform events, specifically high-frequency oscillations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25362483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Lerche, H., Weber, Y. G., Baier, H., Jurkat-Rott, K., Kraus de Camargo, O., Ludolph, A. C., Bode, H., Lehmann-Horn, F.
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<strong>Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.</strong>
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Neurology 57: 1191-1198, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11591834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11591834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11591834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.57.7.1191" target="_blank">Full Text</a>]
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Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others.
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<strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong>
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Nature Genet. 46: 1327-1332, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25362483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25362483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25362483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.3130" target="_blank">Full Text</a>]
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Weber, Y. G., Jacob, M., Weber, G., Lerche, H.
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<strong>A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</strong>
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Epilepsia 49: 1959-1964, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18479394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18479394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18479394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1528-1167.2008.01646.x" target="_blank">Full Text</a>]
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Cassandra L. Kniffin : 1/7/2015
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carol : 05/09/2017
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carol : 01/09/2015<br>mcolton : 1/8/2015<br>ckniffin : 1/8/2015
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<strong>#</strong> 616172
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GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9; GEFSP9
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GEFS+, TYPE 9; GEFS+9
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<strong>ORPHA:</strong> 36387;
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<strong>DO:</strong> 0111301;
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16p11.2
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Generalized epilepsy with febrile seizures plus, type 9
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616172
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Autosomal dominant
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STX1B
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601485
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<p>A number sign (#) is used with this entry because of evidence that generalized epilepsy with febrile seizures plus-9 (GEFSP9) is caused by heterozygous mutation in the STX1B gene (601485) on chromosome 16p11.</p>
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<p>Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years. Seizure types are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence. Most patients have remission of seizures later in childhood with no residual neurologic deficits, but rare patients may show mild developmental delay or mild intellectual disabilities (summary by Schubert et al., 2014). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233.</p>
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<p>Lerche et al. (2001) reported a large 5-generation German family in which 18 individuals experienced early-onset febrile and/or afebrile seizures, with great variability in presentation and course. Schubert et al. (2014) provided follow-up of the family reported by Lerche et al. (2001), noting that several family members with a slightly atypical phenotype who were thought to be affected did not carry the pathogenic STX1B mutation. Six individuals had the core phenotype and carried the mutation. Five patients had onset of both febrile and afebrile seizures around 2 years of age; 1 patient had only afebrile seizures. Seizure types included generalized tonic-clonic, tonic, atonic, and absence. All patients became seizure-free later in childhood. Two individuals with seizures had been diagnosed with Asperger syndrome, but neurologic and cognitive development was normal in all other patients. </p><p>Weber et al. (2008) reported a large 4-generation German family in which 8 individuals had various forms of febrile and/or afebrile seizures. Six patients had several febrile seizures between the ages of 10 months and 4 years, 5 of whom also developed afebrile seizures, either generalized tonic-clonic, atonic, or complex partial. Two patients only had afebrile atonic and generalized tonic-clonic seizures, respectively. EEG during early childhood showed multifocal and generalized discharges, but these abnormalities tended to disappear between ages 2 and 6 years, except in 1 patient whose EEG was still abnormal at age 15. All patients had a good response to treatment, and most were able to discontinue treatment later in childhood without recurrence of seizures. Neurologic examination was unremarkable in all patients, although 2 had reduced intelligence and concentration deficit. Weber et al. (2008) noted that the phenotype was similar to benign familial infantile seizures, but that there were some distinctive features, including later onset of seizures after 12 months of age and a high rate of febrile seizures. In a follow-up of the family reported by Weber et al. (2008), Schubert et al. (2014) noted that all affected individuals were seizure-free. </p><p>Schubert et al. (2014) reported a Dutch girl with GEFSP9 who developed seizures at age 10 months. She had normal psychomotor development at age 16 months. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Schubert et al. (2014) reported 3 unrelated patients with a more severe phenotype associated with mutation in or deletion of the STX1B gene. An adult Swiss patient developed generalized tonic-clonic seizures at age 3.5 years. He had speech delay and later showed moderate intellectual disability (IQ of 48), ataxia, and cerebellar atrophy. The seizures were highly pharmacoresistant. A German girl developed febrile seizures at age 13 months, severe and frequent myoclonic-astatic seizures at age 19 months, and afebrile seizures associated with status epilepticus at age 3 years. She showed global developmental delay, mild intellectual disability, and mild ataxia. An unrelated German girl, who had a deletion encompassing the STX1B gene, developed seizures consistent with myoclonic-astatic epilepsy at age 13 months after showing mild global developmental delay. At age 2 years, she had hypotonia and was developmentally delayed. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of GEFSP9 in the families reported by Lerche et al. (2001) and Weber et al. (2008) was consistent with autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<p>By linkage analysis of a large German family with early-onset febrile and afebrile seizures, Weber et al. (2008) found evidence suggestive of linkage to chromosome 16p11.2-q12.1 (maximum lod score of 2.1 at marker D16S411). </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of the families with GEFSP9 reported by Lerche et al. (2001) and Weber et al. (2008), Schubert et al. (2014) identified different heterozygous truncating mutations in the STX1B gene (601485.0001 and 601485.0002, respectively). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families. Sequencing of the GEFSP9 gene in 3 additional cohorts of patients with seizures identified a mutation in 1 of 299 probands with febrile seizures or epileptic encephalopathies; in 1 of 81 adults with various forms of epilepsy and intellectual disability; and in 1 of 68 patients with epileptic encephalopathies. A de novo microdeletion encompassing the STX1B gene was found in a further patient with myoclonic-astatic epilepsy. Schubert et al. (2014) noted the wide phenotypic spectrum of epilepsy associated with STX1B mutations, ranging from incomplete penetrance without symptoms to simple febrile seizures to severe epileptic encephalopathies. The findings implicated the STX1B gene and the presynaptic release machinery in fever-associated epilepsy syndromes. </p>
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<p>Schubert et al. (2014) found that morpholino knockout of the stx1b gene in zebrafish resulted in abnormal episodic behavior, including repetitive fin fluttering, increased orofacial movements, and myoclonus-like jerks, as well as abnormal spontaneous epileptiform brain activity with polyspiking discharges and high-frequency oscillations. Elevation of temperature increased the occurrence of epileptiform events, specifically high-frequency oscillations. </p>
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<strong>REFERENCES</strong>
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<li>
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Lerche, H., Weber, Y. G., Baier, H., Jurkat-Rott, K., Kraus de Camargo, O., Ludolph, A. C., Bode, H., Lehmann-Horn, F.
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<strong>Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.</strong>
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Neurology 57: 1191-1198, 2001.
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[PubMed: 11591834]
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[Full Text: https://doi.org/10.1212/wnl.57.7.1191]
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</li>
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<li>
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<p class="mim-text-font">
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Schubert, J., Siekierska, A., Langlois, M., May, P., Huneau, C., Becker, F., Muhle, H., Suls, A., Lemke, J. R., de Kovel, C. G. F., Thiele, H., Konrad, K., and 36 others.
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<strong>Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.</strong>
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Nature Genet. 46: 1327-1332, 2014.
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[PubMed: 25362483]
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[Full Text: https://doi.org/10.1038/ng.3130]
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Weber, Y. G., Jacob, M., Weber, G., Lerche, H.
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<strong>A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.</strong>
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Epilepsia 49: 1959-1964, 2008.
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[PubMed: 18479394]
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[Full Text: https://doi.org/10.1111/j.1528-1167.2008.01646.x]
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 1/7/2015
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carol : 05/09/2017<br>carol : 01/09/2015<br>mcolton : 1/8/2015<br>ckniffin : 1/8/2015
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