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<title>
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Entry
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- #604352 - FEBRILE SEIZURES, FAMILIAL, 4; FEB4
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- OMIM
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<span class="h4">#604352</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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<a href="/clinicalSynopsis/604352"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS121210"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#heterogeneity">Heterogeneity</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="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</a>
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</span>
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</span>
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<div><a href="https://clinicaltrials.gov/search?cond=(FEBRILE SEIZURES, FAMILIAL) OR (ADGRV1)" 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://www.diseaseinfosearch.org/x/8425" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604352[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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="small">
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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:0111305" 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/604352" 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>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<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>ORPHA:</strong> 36387<br />
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<strong>DO:</strong> 0111305<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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604352
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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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FEBRILE SEIZURES, FAMILIAL, 4; FEB4
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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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CONVULSIONS, FAMILIAL FEBRILE, 4
|
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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>
|
|
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/5/322?start=-3&limit=10&highlight=322">
|
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5q14.3
|
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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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?Febrile seizures, familial, 4
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
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</span>
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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/604352"> 604352 </a>
|
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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ADGRV1
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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/602851"> 602851 </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 ">
|
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<a href="/clinicalSynopsis/604352" 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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|
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<a href="/phenotypicSeries/PS121210" 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>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/604352" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/604352" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</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 />
|
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</div>
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|
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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>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
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<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
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</div>
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</div>
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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">
|
|
|
|
- Seizures, generalized, associated with fever <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> <span class="mim-feature-ids hidden">[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 /> -
|
|
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 /> -
|
|
Hypertonic seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1208969008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1208969008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836508</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010818" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010818</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010818" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010818</a>]</span><br /> -
|
|
Hypotonic 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 /> -
|
|
Seizures occur in absence of intracranial infection or defined pathologic or traumatic cause <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836510</a>]</span><br /> -
|
|
Seizures usually last less than 15 minutes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853347</a>]</span><br /> -
|
|
Seizures recur in 33% of patients <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836512&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836512</a>]</span><br /> -
|
|
Patients show normal psychomotor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853350&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853350</a>]</span><br /> -
|
|
Between 2 and 7% of children will develop afebrile seizure disorders later in life <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836519&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836519</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset 3 months of age up to 5 years<br /> -
|
|
Seizures remit by age 5 years<br /> -
|
|
Genetic heterogeneity (see FEB1 <a href="/entry/121210">121210</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
|
|
Mutation in the MASS1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<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 homolog of the mouse monogenic, audiogenic seizure susceptibility 1 gene (MASS1, <a href="/entry/602851#0001">602851.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Seizures, familial febrile
|
|
- <a href="/phenotypicSeries/PS121210">PS121210</a>
|
|
- 16 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/2/677?start=-3&limit=10&highlight=677"> 2q23-q24 </a>
|
|
|
|
</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>
|
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<span class="mim-font">
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<a href="/entry/613863"> GEFSP7 </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/613863"> 613863 </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/2/740?start=-3&limit=10&highlight=740"> 2q24.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/604403"> Generalized epilepsy with febrile seizures plus, type 2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</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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<a href="/entry/604403"> 604403 </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/182389"> SCN1A </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/182389"> 182389 </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/2/740?start=-3&limit=10&highlight=740"> 2q24.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/604403"> Febrile seizures, familial, 3A </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
|
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</td>
|
|
<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>
|
|
<span class="mim-font">
|
|
<a href="/entry/604403"> 604403 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182389"> SCN1A </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/182389"> 182389 </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/3/118?start=-3&limit=10&highlight=118"> 3p24.2-p23 </a>
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611634"> Febrile seizures, familial, 9 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611634"> 611634 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611634"> FEB9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611634"> 611634 </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">
|
|
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|
<a href="/geneMap/3/846?start=-3&limit=10&highlight=846"> 3q26.2-q26.33 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612637"> Febrile seizures, familial, 10 </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/612637"> 612637 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612637"> FEB10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612637"> 612637 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/322?start=-3&limit=10&highlight=322"> 5q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604352"> ?Febrile seizures, familial, 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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604352"> 604352 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> ADGRV1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602851"> 602851 </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/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/6/790?start=-3&limit=10&highlight=790"> 6q22-q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609255"> Febrile seizures, familial, 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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609255"> 609255 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609255"> FEB5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609255"> 609255 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/307?start=-3&limit=10&highlight=307"> 8q13-q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121210"> Febrile seizures, familial, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121210"> 121210 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121210"> FEB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121210"> 121210 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/326?start=-3&limit=10&highlight=326"> 8q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614418"> Febrile seizures, familial, 11 </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/614418"> 614418 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609562"> CPA6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609562"> 609562 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/40?start=-3&limit=10&highlight=40"> 18p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609253"> Febrile seizures, familial, 6 </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/609253"> 609253 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609253"> FEB6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609253"> 609253 </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>
|
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<p>A number sign (#) is used with this entry because of evidence that familial febrile seizures-4 (FEB4) is caused by a heterozygous mutation in the ADGRV1 gene (<a href="/entry/602851">602851</a>) on chromosome 5q14. One such family has been reported.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 (<a href="/entry/121210">121210</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Han, J. Y., Lee, H. J., Lee, Y.-M., Park, J. <strong>Identification of missense ADGRV1 mutation as a candidate genetic cause of familial febrile seizure 4.</strong> Children 7: 144, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32962041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32962041</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32962041[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/10.3390/children7090144" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32962041">Han et al. (2020)</a> reported a 5-year-old girl who had recurrent febrile and afebrile seizures between 20 and 36 months of age. She received no antiseizure medication, and no seizures occurred after 3 years of age. She had no developmental delay. Her 35-year-old mother reportedly experienced 5 episodes of simple febrile seizures and 2 episodes of unprovoked seizures before age 5 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32962041" 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="Nakayama, J., Fu, Y.-H., Clark, A. M., Nakahara, S., Hamano, K., Iwasaki, N., Matsui, A., Arinami, T., Ptacek, L. J. <strong>A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.</strong> Ann. Neurol. 52: 654-657, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402266</a>] [<a href="https://doi.org/10.1002/ana.10347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12402266">Nakayama et al. (2002)</a> reported a Japanese family (FS17) in which the proband and her brother had febrile seizures and mutation in the ADGRV1 gene, encoding MASS1. The proband was a 12-year-old girl who had a febrile generalized tonic-clonic seizure lasting 5 minutes at age 2 years. At 3 years of age, she also had an afebrile generalized clonic seizure with left side dominance lasting less than 1 minute. Brain magnetic resonance imaging showed no abnormal findings, and electroencephalograph showed sharp waves in the right central area that disappeared by the time she was 10 years of age. Her 11-year-old brother had 2 febrile generalized tonic-clonic seizures, once at age 6 years and once at age 7 years. His electroencephalograph showed single spike and wave discharges in the right hemisphere that disappeared by the time he was 7 years old. Both affected children had normal mental and motor development. The father carried the mutation and was reported to be unaffected; the father's sister had recurrent febrile seizures during childhood but declined to be examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12402266" 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 FEB4 in family FS17 reported by <a href="#3" class="mim-tip-reference" title="Nakayama, J., Fu, Y.-H., Clark, A. M., Nakahara, S., Hamano, K., Iwasaki, N., Matsui, A., Arinami, T., Ptacek, L. J. <strong>A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.</strong> Ann. Neurol. 52: 654-657, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402266</a>] [<a href="https://doi.org/10.1002/ana.10347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12402266">Nakayama et al. (2002)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12402266" 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="#4" class="mim-tip-reference" title="Nakayama, J., Hamano, K., Iwasaki, N., Nakahara, S., Horigome, Y., Saitoh, H., Aoki, T., Maki, T., Kikuchi, M., Migita, T., Ohto, T., Yokouchi, Y., Tanaka, R., Hasegawa, M., Matsui, A., Hamaguchi, H., Arinami, T. <strong>Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.</strong> Hum. Molec. Genet. 9: 87-91, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10587582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10587582</a>] [<a href="https://doi.org/10.1093/hmg/9.1.87" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10587582">Nakayama et al. (2000)</a> conducted a genomewide linkage study for febrile seizures in 1 large family, with subsequent confirmation of linkage in 39 nuclear families. Significant linkage was found at D5S644 by multipoint nonparametric analysis. Significant linkage disequilibrium with febrile seizures was observed at markers D5S644, D5S652, and D5S2079 in 47 families by transmission disequilibrium tests. These findings indicated that there is a gene on chromosome 5q14-q15, which the authors referred to as FEB4, that confers susceptibility to febrile seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10587582" 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>Because mutation in the mouse Mass1 gene was found to be the cause of audiogenic seizure susceptibility in the Frings mouse strain, <a href="#3" class="mim-tip-reference" title="Nakayama, J., Fu, Y.-H., Clark, A. M., Nakahara, S., Hamano, K., Iwasaki, N., Matsui, A., Arinami, T., Ptacek, L. J. <strong>A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.</strong> Ann. Neurol. 52: 654-657, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402266</a>] [<a href="https://doi.org/10.1002/ana.10347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12402266">Nakayama et al. (2002)</a> screened for mutations in the GPR98, or MASS1 (ADGRV1), gene in individuals from 48 families with familial febrile seizures showing suggestive evidence of linkage to 5q14. They identified 25 DNA alterations. None of 9 missense polymorphic alleles was significantly associated with febrile seizures; however, a nonsense mutation (S2652X; <a href="/entry/602851#0001">602851.0001</a>) causing a deletion of the C-terminal 126 amino acid residues was identified in 1 family with febrile and afebrile seizures. The results suggested that a loss-of-function mutation in MASS1 may be responsible for the seizure phenotype, but that mutation in the MASS1 gene is not likely to be a contributing factor in most families with febrile seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12402266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a proband and her mother with febrile seizures, <a href="#2" class="mim-tip-reference" title="Han, J. Y., Lee, H. J., Lee, Y.-M., Park, J. <strong>Identification of missense ADGRV1 mutation as a candidate genetic cause of familial febrile seizure 4.</strong> Children 7: 144, 2020. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32962041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32962041</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32962041[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/10.3390/children7090144" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32962041">Han et al. (2020)</a> identified a heterozygous missense mutation in the ADGRV1 gene (NM_032119.3, c.2039A-G, D180G, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs547076322;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs547076322</a>). The mutation was identified by targeted exome sequencing and confirmed by Sanger sequencing. The variant had an allele frequency of 2.8 x 10(-5) in the gnomAD database. No functional studies were performed. The authors concluded that the mutation may be a cause of FEB4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32962041" 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="#1" class="mim-tip-reference" title="Deprez, L., Claes, L. R. F., Claeys, K. G., Audenaert, D., Van Dyck, T., Goossens, D., Van Paesschen, W., Del-Favero, J., Van Broeckhoven, C., De Jonghe, P. <strong>Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.</strong> Hum. Genet. 118: 618-625, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16273391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16273391</a>] [<a href="https://doi.org/10.1007/s00439-005-0077-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16273391">Deprez et al. (2006)</a> performed a 10-cM density genomewide scan in a multigenerational family with febrile seizures and epilepsy and attained a maximal multipoint lod score of 3.12 with markers on 5q14.3-q23.1. This candidate region overlapped with the FEB4 locus identified in the Japanese population, in which MASS1 was proposed as the disease gene (<a href="#3" class="mim-tip-reference" title="Nakayama, J., Fu, Y.-H., Clark, A. M., Nakahara, S., Hamano, K., Iwasaki, N., Matsui, A., Arinami, T., Ptacek, L. J. <strong>A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.</strong> Ann. Neurol. 52: 654-657, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402266</a>] [<a href="https://doi.org/10.1002/ana.10347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12402266">Nakayama et al., 2002</a>). In mutation analysis of the exons and exon-intron boundaries of MASS1 in their family, <a href="#1" class="mim-tip-reference" title="Deprez, L., Claes, L. R. F., Claeys, K. G., Audenaert, D., Van Dyck, T., Goossens, D., Van Paesschen, W., Del-Favero, J., Van Broeckhoven, C., De Jonghe, P. <strong>Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.</strong> Hum. Genet. 118: 618-625, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16273391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16273391</a>] [<a href="https://doi.org/10.1007/s00439-005-0077-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16273391">Deprez et al. (2006)</a> found no disease-causing mutation. It may be that another gene within or near the FEB4 locus is responsible for seizures in this family. The family resided in Flanders, the Dutch-speaking region of Belgium. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12402266+16273391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Deprez2006" class="mim-anchor"></a>
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Deprez, L., Claes, L. R. F., Claeys, K. G., Audenaert, D., Van Dyck, T., Goossens, D., Van Paesschen, W., Del-Favero, J., Van Broeckhoven, C., De Jonghe, P.
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<strong>Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.</strong>
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Hum. Genet. 118: 618-625, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16273391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16273391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16273391" 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/10.1007/s00439-005-0077-x" target="_blank">Full Text</a>]
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<a id="Han2020" class="mim-anchor"></a>
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Han, J. Y., Lee, H. J., Lee, Y.-M., Park, J.
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<strong>Identification of missense ADGRV1 mutation as a candidate genetic cause of familial febrile seizure 4.</strong>
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Children 7: 144, 2020. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32962041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32962041</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32962041[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=32962041" 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/10.3390/children7090144" target="_blank">Full Text</a>]
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<a id="Nakayama2002" class="mim-anchor"></a>
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Nakayama, J., Fu, Y.-H., Clark, A. M., Nakahara, S., Hamano, K., Iwasaki, N., Matsui, A., Arinami, T., Ptacek, L. J.
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<strong>A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.</strong>
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Ann. Neurol. 52: 654-657, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12402266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12402266</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12402266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.10347" target="_blank">Full Text</a>]
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Nakayama, J., Hamano, K., Iwasaki, N., Nakahara, S., Horigome, Y., Saitoh, H., Aoki, T., Maki, T., Kikuchi, M., Migita, T., Ohto, T., Yokouchi, Y., Tanaka, R., Hasegawa, M., Matsui, A., Hamaguchi, H., Arinami, T.
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<strong>Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.</strong>
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Hum. Molec. Genet. 9: 87-91, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10587582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10587582</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10587582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/9.1.87" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 04/02/2021
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Victor A. McKusick - updated : 3/7/2006<br>Victor A. McKusick - updated : 12/27/2002
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Victor A. McKusick : 12/20/1999
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alopez : 08/13/2024
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carol : 04/02/2021<br>mgross : 08/31/2016<br>carol : 01/04/2016<br>ckniffin : 2/10/2011<br>wwang : 8/27/2007<br>alopez : 3/13/2006<br>terry : 3/7/2006<br>carol : 3/7/2006<br>ckniffin : 3/29/2005<br>ckniffin : 3/14/2005<br>carol : 6/26/2003<br>cwells : 1/2/2003<br>terry : 12/27/2002<br>carol : 12/20/1999<br>carol : 12/20/1999
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<strong>#</strong> 604352
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FEBRILE SEIZURES, FAMILIAL, 4; FEB4
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CONVULSIONS, FAMILIAL FEBRILE, 4
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<strong>ORPHA:</strong> 36387;
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<strong>DO:</strong> 0111305;
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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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5q14.3
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?Febrile seizures, familial, 4
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604352
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Autosomal dominant
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3
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ADGRV1
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602851
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that familial febrile seizures-4 (FEB4) is caused by a heterozygous mutation in the ADGRV1 gene (602851) on chromosome 5q14. One such family has been reported.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 (121210).</p>
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<strong>Clinical Features</strong>
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<p>Han et al. (2020) reported a 5-year-old girl who had recurrent febrile and afebrile seizures between 20 and 36 months of age. She received no antiseizure medication, and no seizures occurred after 3 years of age. She had no developmental delay. Her 35-year-old mother reportedly experienced 5 episodes of simple febrile seizures and 2 episodes of unprovoked seizures before age 5 years. </p><p>Nakayama et al. (2002) reported a Japanese family (FS17) in which the proband and her brother had febrile seizures and mutation in the ADGRV1 gene, encoding MASS1. The proband was a 12-year-old girl who had a febrile generalized tonic-clonic seizure lasting 5 minutes at age 2 years. At 3 years of age, she also had an afebrile generalized clonic seizure with left side dominance lasting less than 1 minute. Brain magnetic resonance imaging showed no abnormal findings, and electroencephalograph showed sharp waves in the right central area that disappeared by the time she was 10 years of age. Her 11-year-old brother had 2 febrile generalized tonic-clonic seizures, once at age 6 years and once at age 7 years. His electroencephalograph showed single spike and wave discharges in the right hemisphere that disappeared by the time he was 7 years old. Both affected children had normal mental and motor development. The father carried the mutation and was reported to be unaffected; the father's sister had recurrent febrile seizures during childhood but declined to be examined. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of FEB4 in family FS17 reported by Nakayama et al. (2002) was consistent with autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<p>Nakayama et al. (2000) conducted a genomewide linkage study for febrile seizures in 1 large family, with subsequent confirmation of linkage in 39 nuclear families. Significant linkage was found at D5S644 by multipoint nonparametric analysis. Significant linkage disequilibrium with febrile seizures was observed at markers D5S644, D5S652, and D5S2079 in 47 families by transmission disequilibrium tests. These findings indicated that there is a gene on chromosome 5q14-q15, which the authors referred to as FEB4, that confers susceptibility to febrile seizures. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Because mutation in the mouse Mass1 gene was found to be the cause of audiogenic seizure susceptibility in the Frings mouse strain, Nakayama et al. (2002) screened for mutations in the GPR98, or MASS1 (ADGRV1), gene in individuals from 48 families with familial febrile seizures showing suggestive evidence of linkage to 5q14. They identified 25 DNA alterations. None of 9 missense polymorphic alleles was significantly associated with febrile seizures; however, a nonsense mutation (S2652X; 602851.0001) causing a deletion of the C-terminal 126 amino acid residues was identified in 1 family with febrile and afebrile seizures. The results suggested that a loss-of-function mutation in MASS1 may be responsible for the seizure phenotype, but that mutation in the MASS1 gene is not likely to be a contributing factor in most families with febrile seizures. </p><p>In a proband and her mother with febrile seizures, Han et al. (2020) identified a heterozygous missense mutation in the ADGRV1 gene (NM_032119.3, c.2039A-G, D180G, rs547076322). The mutation was identified by targeted exome sequencing and confirmed by Sanger sequencing. The variant had an allele frequency of 2.8 x 10(-5) in the gnomAD database. No functional studies were performed. The authors concluded that the mutation may be a cause of FEB4. </p>
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<strong>Heterogeneity</strong>
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<p>Deprez et al. (2006) performed a 10-cM density genomewide scan in a multigenerational family with febrile seizures and epilepsy and attained a maximal multipoint lod score of 3.12 with markers on 5q14.3-q23.1. This candidate region overlapped with the FEB4 locus identified in the Japanese population, in which MASS1 was proposed as the disease gene (Nakayama et al., 2002). In mutation analysis of the exons and exon-intron boundaries of MASS1 in their family, Deprez et al. (2006) found no disease-causing mutation. It may be that another gene within or near the FEB4 locus is responsible for seizures in this family. The family resided in Flanders, the Dutch-speaking region of Belgium. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Deprez, L., Claes, L. R. F., Claeys, K. G., Audenaert, D., Van Dyck, T., Goossens, D., Van Paesschen, W., Del-Favero, J., Van Broeckhoven, C., De Jonghe, P.
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<strong>Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.</strong>
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Hum. Genet. 118: 618-625, 2006.
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[PubMed: 16273391]
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[Full Text: https://doi.org/10.1007/s00439-005-0077-x]
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<li>
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Han, J. Y., Lee, H. J., Lee, Y.-M., Park, J.
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<strong>Identification of missense ADGRV1 mutation as a candidate genetic cause of familial febrile seizure 4.</strong>
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Children 7: 144, 2020. Note: Electronic Article.
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[PubMed: 32962041]
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[Full Text: https://doi.org/10.3390/children7090144]
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<p class="mim-text-font">
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Nakayama, J., Fu, Y.-H., Clark, A. M., Nakahara, S., Hamano, K., Iwasaki, N., Matsui, A., Arinami, T., Ptacek, L. J.
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<strong>A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.</strong>
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Ann. Neurol. 52: 654-657, 2002.
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[PubMed: 12402266]
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[Full Text: https://doi.org/10.1002/ana.10347]
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Nakayama, J., Hamano, K., Iwasaki, N., Nakahara, S., Horigome, Y., Saitoh, H., Aoki, T., Maki, T., Kikuchi, M., Migita, T., Ohto, T., Yokouchi, Y., Tanaka, R., Hasegawa, M., Matsui, A., Hamaguchi, H., Arinami, T.
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<strong>Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.</strong>
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Hum. Molec. Genet. 9: 87-91, 2000.
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[PubMed: 10587582]
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[Full Text: https://doi.org/10.1093/hmg/9.1.87]
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<br />
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 04/02/2021<br>Victor A. McKusick - updated : 3/7/2006<br>Victor A. McKusick - updated : 12/27/2002
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<span class="mim-text-font">
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Victor A. McKusick : 12/20/1999
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