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Entry
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- #121201 - SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2
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- OMIM
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<p>
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<span class="h4">#121201</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/121201"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS121200"> <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="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<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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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=SEIZURES, BENIGN FAMILIAL NEONATAL" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=990&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK201978/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7806" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/benign-familial-neonatal-seizures" 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=121201[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=1949" 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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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:14264" 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/121201" 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://omia.org/results?search_type=advanced&omia_id=000344,001757" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:14264" 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> 1949<br />
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<strong>DO:</strong> 14264<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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121201
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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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SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2
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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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</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, BENIGN FAMILIAL NEONATAL, 2; BFNC2
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/8/562?start=-3&limit=10&highlight=562">
|
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8q24.22
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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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Seizures, benign neonatal, 2
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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/121201"> 121201 </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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</td>
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<td>
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<span class="mim-font">
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KCNQ3
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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/602232"> 602232 </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/121201" 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/PS121200" class="btn btn-info" role="button"> Phenotypic Series </a>
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|
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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/121201" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/121201" 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">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Focal clonic seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1269363000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1269363000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0752323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0752323</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002266</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002266</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 /> -
|
|
Increased risk of seizures in childhood or adulthood (11-16%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852582&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852582</a>]</span><br /> -
|
|
Normal psychomotor development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9908006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9908006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0520948&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0520948</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
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</div>
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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 of seizures at 2-8 days of life<br /> -
|
|
Most remit by 2 months<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 potassium voltage-gated channel, KQT-like subfamily, member 3 gene (KCNQ3, <a href="/entry/602232#0001">602232.0001</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">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Seizures, benign familial neonatal
|
|
- <a href="/phenotypicSeries/PS121200">PS121200</a>
|
|
- 4 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/8/562?start=-3&limit=10&highlight=562"> 8q24.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121201"> Seizures, benign neonatal, 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/121201"> 121201 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602232"> KCNQ3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602232"> 602232 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/471?start=-3&limit=10&highlight=471"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121200"> Myokymia </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/121200"> 121200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602235"> KCNQ2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602235"> 602235 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/471?start=-3&limit=10&highlight=471"> 20q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121200"> Seizures, benign neonatal, 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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121200"> 121200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602235"> KCNQ2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602235"> 602235 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
Not Mapped
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608217"> Seizures, benign neonatal, 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">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608217"> 608217 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608217"> BFNS3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608217"> 608217 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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</div>
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<p>A number sign (#) is used with this entry because benign familial neonatal seizures-2 (BFNS2) is caused by heterozygous mutation in the KCNQ3 gene (<a href="/entry/602232">602232</a>) on chromosome 8q24.</p>
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<p>Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by <a href="#2" class="mim-tip-reference" title="Fister, P., Soltirovska-Salamon, A., Debeljak, M., Paro-Panjan, D. <strong>Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.</strong> Europ. J. Paediat. Neurol. 17: 308-310, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23146207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23146207</a>] [<a href="https://doi.org/10.1016/j.ejpn.2012.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23146207">Fister et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23146207" 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 benign familial neonatal seizures, see BFNS1 (<a href="/entry/121200">121200</a>).</p>
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<p><a href="#6" class="mim-tip-reference" title="Ryan, S. G., Wiznitzer, M., Hollman, C. H., Torres, M. C., Szekeresova, M., Schneider, S. <strong>Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity.</strong> Ann. Neurol. 29: 469-473, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1859177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1859177</a>] [<a href="https://doi.org/10.1002/ana.410290504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1859177">Ryan et al. (1991)</a> reported a large 3-generation family of Mexican American origin in which 14 individuals had benign neonatal epilepsy manifest as clonic seizures. All affected individuals had onset of seizures between the second and fourteenth day of life, and none had seizures after 2 months of age. EEG and brain imaging were normal, and all patients showed normal intellectual development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1859177" 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="Hirose, S., Zenri, F., Akiyoshi, H., Fukuma, G., Iwata, H., Inoue, T., Yonetani, M., Tsutsumi, M., Muranaka, H., Kurokawa, T., Hanai, T., Wada, K., Kaneko, S., Mitsudome, A. <strong>A novel mutation of KCNQ3 (c.925T-C) in a Japanese family with benign familial neonatal convulsions.</strong> Ann. Neurol. 47: 822-826, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10852552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10852552</a>]" pmid="10852552">Hirose et al. (2000)</a> reported a Japanese family in which several members had onset of clonic or tonic-clonic seizures in the first week of life. Seizures disappeared by 2 weeks of life in all affected individuals except 2: these 2 patients had complex partial seizures with occasional secondary generalization at ages 6 months and 3 years, respectively. None of the patients showed intellectual delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10852552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Li, H., Li, N., Shen, L., Jiang, H., Yang, Q., Song, Y., Guo, J., Xia, K., Pan, Q., Tang, B. <strong>A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.</strong> Epilepsy Res. 79: 1-5, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18249525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18249525</a>] [<a href="https://doi.org/10.1016/j.eplepsyres.2007.12.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18249525">Li et al. (2008)</a> reported a 3-generation Chinese family in which 7 individuals had benign neonatal seizures. Affected individuals developed afebrile seizures between 2 and 3 days after birth, followed by remission during 1 month without recurrence. Most patients had partial clonic seizures that lasted from 30 seconds to 1 minute and occurred from 1 to 10 times a day. One patient had paroxysmal squeals. EEG and brain imaging were normal in all patients studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18249525" 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="Fister, P., Soltirovska-Salamon, A., Debeljak, M., Paro-Panjan, D. <strong>Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.</strong> Europ. J. Paediat. Neurol. 17: 308-310, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23146207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23146207</a>] [<a href="https://doi.org/10.1016/j.ejpn.2012.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23146207">Fister et al. (2013)</a> reported a mother and daughter of Slovenian descent with BFNS2. The patients developed focal clonic seizures on the third and fifth days of life, respectively. The seizures in the daughter lasted from thirty seconds to 2 minutes. At age 2.5 years, she was seizure-free and developing normally. The mother had recurrence of seizures at age 3 weeks, but thereafter was seizure-free and had normal development. The seizures in both patients were responsive to phenobarbital. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23146207" 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 benign neonatal seizures in the families reported by <a href="#6" class="mim-tip-reference" title="Ryan, S. G., Wiznitzer, M., Hollman, C. H., Torres, M. C., Szekeresova, M., Schneider, S. <strong>Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity.</strong> Ann. Neurol. 29: 469-473, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1859177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1859177</a>] [<a href="https://doi.org/10.1002/ana.410290504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1859177">Ryan et al. (1991)</a>, <a href="#3" class="mim-tip-reference" title="Hirose, S., Zenri, F., Akiyoshi, H., Fukuma, G., Iwata, H., Inoue, T., Yonetani, M., Tsutsumi, M., Muranaka, H., Kurokawa, T., Hanai, T., Wada, K., Kaneko, S., Mitsudome, A. <strong>A novel mutation of KCNQ3 (c.925T-C) in a Japanese family with benign familial neonatal convulsions.</strong> Ann. Neurol. 47: 822-826, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10852552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10852552</a>]" pmid="10852552">Hirose et al. (2000)</a>, and <a href="#5" class="mim-tip-reference" title="Li, H., Li, N., Shen, L., Jiang, H., Yang, Q., Song, Y., Guo, J., Xia, K., Pan, Q., Tang, B. <strong>A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.</strong> Epilepsy Res. 79: 1-5, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18249525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18249525</a>] [<a href="https://doi.org/10.1016/j.eplepsyres.2007.12.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18249525">Li et al. (2008)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18249525+1859177+10852552" 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>Using dinucleotide repeat markers distributed throughout the genome to analyze an affected family reported by <a href="#6" class="mim-tip-reference" title="Ryan, S. G., Wiznitzer, M., Hollman, C. H., Torres, M. C., Szekeresova, M., Schneider, S. <strong>Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity.</strong> Ann. Neurol. 29: 469-473, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1859177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1859177</a>] [<a href="https://doi.org/10.1002/ana.410290504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1859177">Ryan et al. (1991)</a>, <a href="#4" class="mim-tip-reference" title="Lewis, T. B., Leach, R. J., Ward, K., O'Connell, P., Ryan, S. G. <strong>Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.</strong> Am. J. Hum. Genet. 53: 670-675, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8102508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8102508</a>]" pmid="8102508">Lewis et al. (1993)</a> demonstrated linkage of benign neonatal epilepsy to markers D8S284 and D8S256 on chromosome 8q (maximum pairwise lod score of 4.43). Multipoint analysis placed the BFNS2 locus in the interval spanned by D8S198-D8S274. The kindred was of Mexican American ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1859177+8102508" 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 an affected member of the large BFNC family previously reported by <a href="#6" class="mim-tip-reference" title="Ryan, S. G., Wiznitzer, M., Hollman, C. H., Torres, M. C., Szekeresova, M., Schneider, S. <strong>Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity.</strong> Ann. Neurol. 29: 469-473, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1859177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1859177</a>] [<a href="https://doi.org/10.1002/ana.410290504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1859177">Ryan et al. (1991)</a> and <a href="#4" class="mim-tip-reference" title="Lewis, T. B., Leach, R. J., Ward, K., O'Connell, P., Ryan, S. G. <strong>Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.</strong> Am. J. Hum. Genet. 53: 670-675, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8102508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8102508</a>]" pmid="8102508">Lewis et al. (1993)</a>, <a href="#1" class="mim-tip-reference" title="Charlier, C., Singh, N. A., Ryan, S. G., Lewis, T. B., Reus, B. E., Leach, R. J., Leppert, M. <strong>A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.</strong> Nature Genet. 18: 53-55, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425900</a>] [<a href="https://doi.org/10.1038/ng0198-53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425900">Charlier et al. (1998)</a> identified a mutation in the KCNQ3 gene (G263V; <a href="/entry/602232#0001">602232.0001</a>) that cosegregated with the BFNC phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1859177+9425900+8102508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a Japanese family with BFNS2, <a href="#3" class="mim-tip-reference" title="Hirose, S., Zenri, F., Akiyoshi, H., Fukuma, G., Iwata, H., Inoue, T., Yonetani, M., Tsutsumi, M., Muranaka, H., Kurokawa, T., Hanai, T., Wada, K., Kaneko, S., Mitsudome, A. <strong>A novel mutation of KCNQ3 (c.925T-C) in a Japanese family with benign familial neonatal convulsions.</strong> Ann. Neurol. 47: 822-826, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10852552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10852552</a>]" pmid="10852552">Hirose et al. (2000)</a> identified a heterozygous missense mutation in the KCNQ3 gene (W309R; <a href="/entry/602232#0002">602232.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10852552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a Chinese family with benign neonatal seizures, <a href="#5" class="mim-tip-reference" title="Li, H., Li, N., Shen, L., Jiang, H., Yang, Q., Song, Y., Guo, J., Xia, K., Pan, Q., Tang, B. <strong>A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.</strong> Epilepsy Res. 79: 1-5, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18249525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18249525</a>] [<a href="https://doi.org/10.1016/j.eplepsyres.2007.12.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18249525">Li et al. (2008)</a> identified a heterozygous mutation in the KCNQ3 gene (R330C; <a href="/entry/602232#0003">602232.0003</a>). The mutation, which was found by linkage analysis followed by candidate gene sequencing, segregated with the disorder in the family. <a href="#2" class="mim-tip-reference" title="Fister, P., Soltirovska-Salamon, A., Debeljak, M., Paro-Panjan, D. <strong>Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.</strong> Europ. J. Paediat. Neurol. 17: 308-310, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23146207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23146207</a>] [<a href="https://doi.org/10.1016/j.ejpn.2012.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23146207">Fister et al. (2013)</a> identified a heterozygous R330C mutation in the KCNQ3 gene in a Slovenian mother and daughter with benign neonatal seizures-2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18249525+23146207" 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="1" class="mim-anchor"></a>
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<a id="Charlier1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Charlier, C., Singh, N. A., Ryan, S. G., Lewis, T. B., Reus, B. E., Leach, R. J., Leppert, M.
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<strong>A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.</strong>
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Nature Genet. 18: 53-55, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425900</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425900" 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/ng0198-53" target="_blank">Full Text</a>]
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<a id="Fister2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fister, P., Soltirovska-Salamon, A., Debeljak, M., Paro-Panjan, D.
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<strong>Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.</strong>
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Europ. J. Paediat. Neurol. 17: 308-310, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23146207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23146207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23146207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejpn.2012.10.007" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Hirose2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hirose, S., Zenri, F., Akiyoshi, H., Fukuma, G., Iwata, H., Inoue, T., Yonetani, M., Tsutsumi, M., Muranaka, H., Kurokawa, T., Hanai, T., Wada, K., Kaneko, S., Mitsudome, A.
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<strong>A novel mutation of KCNQ3 (c.925T-C) in a Japanese family with benign familial neonatal convulsions.</strong>
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Ann. Neurol. 47: 822-826, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10852552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10852552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10852552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Lewis1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lewis, T. B., Leach, R. J., Ward, K., O'Connell, P., Ryan, S. G.
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<strong>Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.</strong>
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Am. J. Hum. Genet. 53: 670-675, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8102508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8102508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8102508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Li2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Li, H., Li, N., Shen, L., Jiang, H., Yang, Q., Song, Y., Guo, J., Xia, K., Pan, Q., Tang, B.
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<strong>A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.</strong>
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Epilepsy Res. 79: 1-5, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18249525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18249525</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18249525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.eplepsyres.2007.12.005" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Ryan1991" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ryan, S. G., Wiznitzer, M., Hollman, C. H., Torres, M. C., Szekeresova, M., Schneider, S.
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<strong>Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity.</strong>
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Ann. Neurol. 29: 469-473, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1859177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1859177</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1859177" 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.410290504" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/30/2014
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - reorganized : 6/23/2004<br>Victor A. McKusick - updated : 12/30/1997
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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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Victor A. McKusick : 9/17/1993
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 05/09/2017
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<span class="mim-text-font">
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carol : 01/31/2014<br>ckniffin : 1/30/2014<br>carol : 7/20/2011<br>wwang : 4/8/2011<br>ckniffin : 2/10/2011<br>carol : 6/23/2004<br>ckniffin : 6/14/2004<br>ckniffin : 2/5/2003<br>carol : 6/30/1999<br>alopez : 1/7/1998<br>terry : 1/6/1998<br>mimadm : 6/25/1994<br>carol : 9/17/1993
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<span class="mim-font">
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<strong>#</strong> 121201
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SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2
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<em>Alternative titles; symbols</em>
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CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2; BFNC2
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<strong>ORPHA:</strong> 1949;
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<strong>DO:</strong> 14264;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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8q24.22
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<span class="mim-font">
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Seizures, benign neonatal, 2
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<span class="mim-font">
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121201
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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KCNQ3
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<span class="mim-font">
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602232
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because benign familial neonatal seizures-2 (BFNS2) is caused by heterozygous mutation in the KCNQ3 gene (602232) on chromosome 8q24.</p>
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<div>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by Fister et al., 2013). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 (121200).</p>
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<h4>
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<strong>Clinical Features</strong>
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<p>Ryan et al. (1991) reported a large 3-generation family of Mexican American origin in which 14 individuals had benign neonatal epilepsy manifest as clonic seizures. All affected individuals had onset of seizures between the second and fourteenth day of life, and none had seizures after 2 months of age. EEG and brain imaging were normal, and all patients showed normal intellectual development. </p><p>Hirose et al. (2000) reported a Japanese family in which several members had onset of clonic or tonic-clonic seizures in the first week of life. Seizures disappeared by 2 weeks of life in all affected individuals except 2: these 2 patients had complex partial seizures with occasional secondary generalization at ages 6 months and 3 years, respectively. None of the patients showed intellectual delay. </p><p>Li et al. (2008) reported a 3-generation Chinese family in which 7 individuals had benign neonatal seizures. Affected individuals developed afebrile seizures between 2 and 3 days after birth, followed by remission during 1 month without recurrence. Most patients had partial clonic seizures that lasted from 30 seconds to 1 minute and occurred from 1 to 10 times a day. One patient had paroxysmal squeals. EEG and brain imaging were normal in all patients studied. </p><p>Fister et al. (2013) reported a mother and daughter of Slovenian descent with BFNS2. The patients developed focal clonic seizures on the third and fifth days of life, respectively. The seizures in the daughter lasted from thirty seconds to 2 minutes. At age 2.5 years, she was seizure-free and developing normally. The mother had recurrence of seizures at age 3 weeks, but thereafter was seizure-free and had normal development. The seizures in both patients were responsive to phenobarbital. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of benign neonatal seizures in the families reported by Ryan et al. (1991), Hirose et al. (2000), and Li et al. (2008) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using dinucleotide repeat markers distributed throughout the genome to analyze an affected family reported by Ryan et al. (1991), Lewis et al. (1993) demonstrated linkage of benign neonatal epilepsy to markers D8S284 and D8S256 on chromosome 8q (maximum pairwise lod score of 4.43). Multipoint analysis placed the BFNS2 locus in the interval spanned by D8S198-D8S274. The kindred was of Mexican American ancestry. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<p>In an affected member of the large BFNC family previously reported by Ryan et al. (1991) and Lewis et al. (1993), Charlier et al. (1998) identified a mutation in the KCNQ3 gene (G263V; 602232.0001) that cosegregated with the BFNC phenotype. </p><p>In affected members of a Japanese family with BFNS2, Hirose et al. (2000) identified a heterozygous missense mutation in the KCNQ3 gene (W309R; 602232.0002). </p><p>In affected members of a Chinese family with benign neonatal seizures, Li et al. (2008) identified a heterozygous mutation in the KCNQ3 gene (R330C; 602232.0003). The mutation, which was found by linkage analysis followed by candidate gene sequencing, segregated with the disorder in the family. Fister et al. (2013) identified a heterozygous R330C mutation in the KCNQ3 gene in a Slovenian mother and daughter with benign neonatal seizures-2. </p>
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<strong>REFERENCES</strong>
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Charlier, C., Singh, N. A., Ryan, S. G., Lewis, T. B., Reus, B. E., Leach, R. J., Leppert, M.
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<strong>A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.</strong>
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Nature Genet. 18: 53-55, 1998.
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[PubMed: 9425900]
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[Full Text: https://doi.org/10.1038/ng0198-53]
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Fister, P., Soltirovska-Salamon, A., Debeljak, M., Paro-Panjan, D.
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<strong>Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.</strong>
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Europ. J. Paediat. Neurol. 17: 308-310, 2013.
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[PubMed: 23146207]
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[Full Text: https://doi.org/10.1016/j.ejpn.2012.10.007]
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</li>
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<li>
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Hirose, S., Zenri, F., Akiyoshi, H., Fukuma, G., Iwata, H., Inoue, T., Yonetani, M., Tsutsumi, M., Muranaka, H., Kurokawa, T., Hanai, T., Wada, K., Kaneko, S., Mitsudome, A.
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<strong>A novel mutation of KCNQ3 (c.925T-C) in a Japanese family with benign familial neonatal convulsions.</strong>
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Ann. Neurol. 47: 822-826, 2000.
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[PubMed: 10852552]
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</p>
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</li>
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<li>
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Lewis, T. B., Leach, R. J., Ward, K., O'Connell, P., Ryan, S. G.
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<strong>Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.</strong>
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Am. J. Hum. Genet. 53: 670-675, 1993.
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[PubMed: 8102508]
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</li>
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<li>
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<p class="mim-text-font">
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Li, H., Li, N., Shen, L., Jiang, H., Yang, Q., Song, Y., Guo, J., Xia, K., Pan, Q., Tang, B.
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<strong>A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.</strong>
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Epilepsy Res. 79: 1-5, 2008.
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[PubMed: 18249525]
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[Full Text: https://doi.org/10.1016/j.eplepsyres.2007.12.005]
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Ryan, S. G., Wiznitzer, M., Hollman, C. H., Torres, M. C., Szekeresova, M., Schneider, S.
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<strong>Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity.</strong>
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Ann. Neurol. 29: 469-473, 1991.
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[PubMed: 1859177]
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[Full Text: https://doi.org/10.1002/ana.410290504]
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Cassandra L. Kniffin - updated : 1/30/2014<br>Cassandra L. Kniffin - reorganized : 6/23/2004<br>Victor A. McKusick - updated : 12/30/1997
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Victor A. McKusick : 9/17/1993
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