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Entry
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- #121200 - SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1
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- OMIM
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<p>
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<span class="h4">#121200</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/121200"><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="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#history">History</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="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-cell;">Clinical Resources</div>
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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/NBK32534/" 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/1892" 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=121200[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/121200" 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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121200
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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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SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1
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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="includedTitles" 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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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED
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</span>
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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">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/20/471?start=-3&limit=10&highlight=471">
|
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20q13.33
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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, 1
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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/121200"> 121200 </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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KCNQ2
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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/602235"> 602235 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/20/471?start=-3&limit=10&highlight=471">
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20q13.33
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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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Myokymia
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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/121200"> 121200 </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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KCNQ2
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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/602235"> 602235 </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/121200" 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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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/121200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/121200" 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> RESPIRATORY </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Apnea during seizures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805452</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
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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> 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, 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 /> -
|
|
Start with tonic posturing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852588</a>]</span><br /> -
|
|
Motor automatisms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852589&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852589</a>]</span><br /> -
|
|
Febrile seizures may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843235&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843235</a>]</span> <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">[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 /> -
|
|
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 /> -
|
|
Epileptic encephalopathy with psychomotor retardation (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852590&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852590</a>]</span><br /> -
|
|
Drug-resistent seizures (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852591</a>]</span><br /> -
|
|
Myokymia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27678003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27678003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0684219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0684219</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002411</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002411</a>]</span><br /> -
|
|
Finger twitching <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847992&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847992</a>]</span><br /> -
|
|
EMG with spontaneous discharge of normal motor unit potentials <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847993&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847993</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
|
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|
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|
|
|
|
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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 of seizures at 2-8 days of life<br /> -
|
|
Most remit by 6 weeks (1-6 months)<br /> -
|
|
Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
|
|
Some patients may have isolated myokymia<br /> -
|
|
Genetic heterogeneity (see EBN2 <a href="/entry/121201">121201</a>, EBN3 <a href="/entry/608217">608217</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 /> -
|
|
An autosomal recessive form has been reported (<a href="/entry/269720">269720</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
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|
|
</div>
|
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|
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|
|
<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 2 gene (KCNQ2, <a href="/entry/602235#0001">602235.0001</a>)<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 class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
|
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
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Seizures, benign familial neonatal
|
|
- <a href="/phenotypicSeries/PS121200">PS121200</a>
|
|
- 4 Entries
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
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<a href="/geneMap/8/562?start=-3&limit=10&highlight=562"> 8q24.22 </a>
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<span class="mim-font">
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<a href="/entry/121201"> Seizures, benign neonatal, 2 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/121201"> 121201 </a>
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<span class="mim-font">
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<a href="/entry/602232"> KCNQ3 </a>
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<span class="mim-font">
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<a href="/entry/602232"> 602232 </a>
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<a href="/geneMap/20/471?start=-3&limit=10&highlight=471"> 20q13.33 </a>
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<span class="mim-font">
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<a href="/entry/121200"> Myokymia </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/121200"> 121200 </a>
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<span class="mim-font">
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<a href="/entry/602235"> KCNQ2 </a>
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<span class="mim-font">
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<a href="/entry/602235"> 602235 </a>
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<span class="mim-font">
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<a href="/geneMap/20/471?start=-3&limit=10&highlight=471"> 20q13.33 </a>
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<span class="mim-font">
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<a href="/entry/121200"> Seizures, benign neonatal, 1 </a>
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</span>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/121200"> 121200 </a>
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<span class="mim-font">
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<a href="/entry/602235"> KCNQ2 </a>
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<span class="mim-font">
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<a href="/entry/602235"> 602235 </a>
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<span class="mim-font">
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Not Mapped
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<span class="mim-font">
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<a href="/entry/608217"> Seizures, benign neonatal, 3 </a>
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</span>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<span class="mim-font">
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<a href="/entry/608217"> 608217 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/608217"> BFNS3 </a>
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<span class="mim-font">
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<a href="/entry/608217"> 608217 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that benign familial neonatal seizures-1 (BFNS1) is caused by heterozygous mutation in the KCNQ2 gene (<a href="/entry/602235">602235</a>) on chromosome 20q13.</p><p>Some patients with KCNQ2 mutations have a more severe seizure disorder, consistent with developmental and epileptic encephalopathy-7 (DEE7; <a href="/entry/613720">613720</a>).</p>
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<strong>Description</strong>
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<p>Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1; <a href="/entry/601764">601764</a>) by an earlier age at onset.</p><p><a href="#9" class="mim-tip-reference" title="Deprez, L., Jansen, A., De Jonghe, P. <strong>Genetics of epilepsy syndromes starting in the first year of life.</strong> Neurology 72: 273-281, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19153375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19153375</a>] [<a href="https://doi.org/10.1212/01.wnl.0000339494.76377.d6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19153375">Deprez et al. (2009)</a> provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19153375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Benign Familial Neonatal Seizures</em></strong></p><p>
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See also BFNS2 (<a href="/entry/121201">121201</a>), which is caused by mutation in the KCNQ3 gene (<a href="/entry/602232">602232</a>) on chromosome 8q24, and BFNS3 (<a href="/entry/608217">608217</a>), which has been associated with a pericentric inversion on chromosome 5. See <a href="/entry/269720">269720</a> for a possible autosomal recessive form.</p>
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<strong>Clinical Features</strong>
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<p><a href="#18" class="mim-tip-reference" title="Rett, A., Teubel, R. <strong>Neugeborenenkraempfe im Rahmen einer epileptisch belasteten Familie.</strong> Wien. Klin. Wschr. 76: 609-613, 1964."None>Rett and Teubel (1964)</a> and <a href="#5" class="mim-tip-reference" title="Bjerre, I., Corelius, E. <strong>Benign familial neonatal convulsions.</strong> Acta Paediat. Scand. 57: 557-561, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5706374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5706374</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1968.tb06980.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5706374">Bjerre and Corelius (1968)</a> reported families in which multiple persons had neonatal convulsions that cleared spontaneously after a few weeks and were followed by normal psychomotor development. Inheritance was autosomal dominant. Pyridoxine dependency was excluded in all. <a href="#25" class="mim-tip-reference" title="Zimprich, F., Ronen, G. M., Stogmann, W., Baumgartner, C., Stogmann, E., Rett, B., Pappas, C., Leppert, M., Singh, N., Anderson, V. E. <strong>Andreas Rett and benign familial neonatal convulsions revisited.</strong> Neurology 67: 864-866, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16966552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16966552</a>] [<a href="https://doi.org/10.1212/01.wnl.0000234066.46806.90" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16966552">Zimprich et al. (2006)</a> provided follow-up of the original family reported by <a href="#18" class="mim-tip-reference" title="Rett, A., Teubel, R. <strong>Neugeborenenkraempfe im Rahmen einer epileptisch belasteten Familie.</strong> Wien. Klin. Wschr. 76: 609-613, 1964."None>Rett and Teubel (1964)</a>. There were 9 affected individuals spanning 4 generations. The 2 index patients had their first seizures on the third day of life. Seizures recurred 15 to 20 times daily for the first few weeks and then remitted. Seizures started uniformly with brief generalized tonic posturing and cyanosis followed by a generalized clonic phase including facial and ocular manifestations. Unilateral or focal features were not observed, and 9 of 10 seizures occurred during sleep. Later in childhood, 3 of the 9 affected individuals developed nocturnal generalized tonic-clonic seizures; 2 of the 3 also had simple focal orofacial seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16966552+5706374" 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 the case reported by <a href="#6" class="mim-tip-reference" title="Carton, D. <strong>Benign familial neonatal convulsions.</strong> Neuropadiatrie 9: 167-171, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/581220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">581220</a>] [<a href="https://doi.org/10.1055/s-0028-1085421" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="581220">Carton (1978)</a>, strong paroxysmal fetal movements were perceived during the last 2 months of pregnancy, possibly indicating intrauterine convulsions. <a href="#12" class="mim-tip-reference" title="Herranz, J. L., Arce, J. L. <strong>Convulsiones neonatales familiares benignas.</strong> An. Esp. Pediat. 12: 457-462, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/464415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">464415</a>]" pmid="464415">Herranz and Arce (1979)</a> reported 13 affected persons in 5 generations of a family. No convulsions occurred after the 40th day of life, and development in all but one was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=464415+581220" 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="#17" class="mim-tip-reference" title="Pettit, R. E., Fenichel, G. M. <strong>Benign familial neonatal seizures.</strong> Arch. Neurol. 37: 47-48, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7350900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7350900</a>] [<a href="https://doi.org/10.1001/archneur.1980.00500500077012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7350900">Pettit and Fenichel (1980)</a> reported a family with 5 affected members. One patient died during a cyanotic spell, and the remainder were developmentally and neurologically normal, although 3 continued to have seizure disorders as adults. <a href="#23" class="mim-tip-reference" title="Tibbles, J. A. R. <strong>Dominant benign neonatal seizures.</strong> Dev. Med. Child Neurol. 22: 664-667, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7439556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7439556</a>]" pmid="7439556">Tibbles (1980)</a> described 3 families with benign neonatal seizures with male-to-male transmission in 2 of them. <a href="#23" class="mim-tip-reference" title="Tibbles, J. A. R. <strong>Dominant benign neonatal seizures.</strong> Dev. Med. Child Neurol. 22: 664-667, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7439556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7439556</a>]" pmid="7439556">Tibbles (1980)</a> suggested that persons with this disorder have an increased risk of the later development of epilepsy. <a href="#10" class="mim-tip-reference" title="Dobrescu, O., Larbrisseau, A. <strong>Benign familial neonatal convulsions.</strong> Canad. J. Neurol. Sci. 9: 345-347, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7116243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7116243</a>] [<a href="https://doi.org/10.1017/s0317167100044188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7116243">Dobrescu and Larbrisseau (1982)</a> described a family with 12 affected members in 3 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7116243+7350900+7439556" 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="#26" class="mim-tip-reference" title="Zonana, J., Silvey, K., Strimling, B. <strong>Familial neonatal and infantile seizures: an autosomal-dominant disorder.</strong> Am. J. Med. Genet. 18: 455-459, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6476007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6476007</a>] [<a href="https://doi.org/10.1002/ajmg.1320180315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6476007">Zonana et al. (1984)</a> reported a family with 6 affected individuals in 3 generations. Analysis of the clinical features of their family and of 15 previously reported families (116 patients total) revealed a typical clinical phenotype with onset of seizures by 2 to 8 days of life and cessation of seizures by 1 to 6 months. Long-term neurodevelopmental outcome was normal, except for an increased rate (11%) of subsequent seizures in childhood or adulthood. <a href="#7" class="mim-tip-reference" title="Cunniff, C., Wiedlin, N., Jones, K. L. <strong>Autosomal dominant benign neonatal seizures.</strong> Am. J. Med. Genet. 30: 963-966, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3189416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3189416</a>] [<a href="https://doi.org/10.1002/ajmg.1320300414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3189416">Cunniff et al. (1988)</a> described a family with 8 affected persons in 2 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3189416+6476007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Ryan, S. G., Wiznitzer, M., Hollman, C., 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 an affected family with a variable phenotype: seizures frequently did not remit until 6 to 24 months; febrile convulsions occurred in at least 2 patients; apparent audiogenic seizures occurred in 4 patients; and 1 individual had refractory epilepsy until late adolescence. The family showed linkage to chromosome 20q. <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>On the basis of a kindred with 69 affected individuals, <a href="#19" class="mim-tip-reference" title="Ronen, G. M., Rosales, T. O., Connolly, M., Anderson, V. E., Leppert, M. <strong>Seizure characteristics in chromosome 20 benign familial neonatal convulsions.</strong> Neurology 43: 1355-1360, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8327138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8327138</a>] [<a href="https://doi.org/10.1212/wnl.43.7.1355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8327138">Ronen et al. (1993)</a> defined the seizure characteristics in chromosome 20-linked BFNC. Seizure onset occurred on day 3 in 42%, and remission took place in 68% during the first 6 weeks. Seizures were brief and of a mixed type, starting with tonic posture, ocular symptoms, apnea, and other autonomic features. The seizure often progressed to clonic movements and motor automatisms. The postictal state was brief, and interictally the neonates looked well. The ictal EEG pattern showed with generalized suppression of amplitude on onset. Neurocognitive outcome was usually normal, but the risk for subsequent epilepsy was 16%. Most of the later epilepsy was generalized tonic or tonic-clonic, and some seizures were provoked, raising the possibility of an unusual form of reflex epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8327138" 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 large family in which 13 individuals had benign neonatal convulsions, <a href="#3" class="mim-tip-reference" title="Berkovic, S. F., Kennerson, M. L., Howell, R. A., Scheffer, I. E., Hwang, P. A., Nicholson, G. A. <strong>Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.</strong> Arch. Neurol. 51: 1125-1128, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7980108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7980108</a>] [<a href="https://doi.org/10.1001/archneur.1994.00540230063014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7980108">Berkovic et al. (1994)</a> found that 10 patients had neonatal seizures and 4 had febrile seizures, including 2 without neonatal convulsions. Two individuals had afebrile seizures later, 1 of whom had not previously demonstrated neonatal or febrile seizures. Three obligate carriers had no known seizures. The authors emphasized the phenotypic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7980108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bassi, M. T., Balottin, U., Panzeri, C., Piccinelli, P., Castaldo, P., Barrese, V., Soldovieri, M. V., Miceli, F., Colombo, M., Bresolin, N., Borgatti, R., Taglialatela, M. <strong>Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).</strong> Neurogenetics 6: 185-193, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16235065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16235065</a>] [<a href="https://doi.org/10.1007/s10048-005-0012-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16235065">Bassi et al. (2005)</a> reported a large Italian family in which 8 individuals had BFNS1. A ninth family member developed severe epilepsy associated with mild mental retardation and persistent neurologic problems in adult life; this phenotypic variability was considered by the authors to be consistent with the fact that 10 to 15% of BFNC individuals experience seizures later in life. Genetic analysis identified a heterozygous truncating mutation in the KCNQ2 gene (<a href="/entry/602235#0009">602235.0009</a>) in all 9 members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16235065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Benign Familial Neonatal Seizures 1 and/or Myokymia</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Dedek, K., Kunath, B., Kananura, C., Reuner, U., Jentsch, T. J., Steinlein, O. K. <strong>Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K(+) channel.</strong> Proc. Nat. Acad. Sci. 98: 12272-12277, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11572947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11572947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11572947[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.211431298" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11572947">Dedek et al. (2001)</a> reported a German family in which twin sisters had BFNS. Both later had grand mal seizures at ages 2 and 12 to 13 years, some of which were associated with fever. Both complained about exercise-induced myalgia in preschool, but this resolved by adolescence. Both girls also developed myokymia later in childhood, characterized by involuntary movements of the limbs, fingers, and toes, and spontaneous repetitive discharges on EMG. Both had mild learning disabilities. A half-sister had recurrent neonatal convulsions with tonic and/or clonic limb movements in infancy. Myokymia became apparent at age 3 years. A son of 1 of the twins had neonatal convulsions without neurologic abnormalities or myokymia at age 1 year. However, EMG showed spontaneous discharges of grouped motor unit potentials, consistent with myokymic discharges. Inheritance was autosomal dominant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11572947" 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="#24" class="mim-tip-reference" title="Wuttke, T. V., Jurkat-Rott, K., Paulus, W., Garncarek, M., Lehmann-Horn, F., Lerche, H. <strong>Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.</strong> Neurology 69: 2045-2053, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17872363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17872363</a>] [<a href="https://doi.org/10.1212/01.wnl.0000275523.95103.36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17872363">Wuttke et al. (2007)</a> reported a 25-year-old Egyptian man with isolated myokymia and no history of neonatal seizures. There was no family history of epilepsy or peripheral nerve hyperexcitability. Clinically, the patient had had permanent muscle overactivity in the distal upper extremities and small amplitude movements of the fingers, which were not disabling. However, he also reported exercise-induced cramps of both hands since childhood and 4 episodes of exercise-induced generalized muscle stiffness. EMG showed spontaneous irregular discharges consistent with myokymia. He showed a favorable response to treatment with retigabine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17872363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage to RFLP markers, <a href="#15" class="mim-tip-reference" title="Leppert, M., Anderson, V. E., Quattlebaum, T., Stauffer, D., O'Connell, P., Nakamura, Y., Lalouel, J.-M., White, R. <strong>Benign familial neonatal convulsions linked to genetic markers on chromosome 20.</strong> Nature 337: 647-648, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2918897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2918897</a>] [<a href="https://doi.org/10.1038/337647a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2918897">Leppert et al. (1989)</a> demonstrated that a gene for benign neonatal seizures is located on chromosome 20. <a href="#16" class="mim-tip-reference" title="Malafosse, A., Leboyer, M., Dulac, O., Navelet, Y., Plouin, P., Beck, C., Laklou, H., Mouchnino, G., Grandscene, P., Vallee, L., Guilloud-Bataille, M., Samolyk, D., Baldy-Moulinier, M., Feingold, J., Mallet, J. <strong>Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.</strong> Hum. Genet. 89: 54-58, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1577466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1577466</a>] [<a href="https://doi.org/10.1007/BF00207042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1577466">Malafosse et al. (1992)</a> confirmed the assignment to 20q by demonstrating linkage to D20S19 and D20S20 in 6 French pedigrees. In the families studied, there were several cases of febrile convulsions. <a href="#16" class="mim-tip-reference" title="Malafosse, A., Leboyer, M., Dulac, O., Navelet, Y., Plouin, P., Beck, C., Laklou, H., Mouchnino, G., Grandscene, P., Vallee, L., Guilloud-Bataille, M., Samolyk, D., Baldy-Moulinier, M., Feingold, J., Mallet, J. <strong>Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.</strong> Hum. Genet. 89: 54-58, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1577466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1577466</a>] [<a href="https://doi.org/10.1007/BF00207042" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1577466">Malafosse et al. (1992)</a> concluded that different susceptibility genes are responsible for febrile convulsions and benign neonatal seizures. <a href="#22" class="mim-tip-reference" title="Steinlein, O., Fischer, C., Keil, R., Smigrodzki, R., Vogel, F. <strong>D20S19, linked to low voltage EEG, benign neonatal convulsions, and Fanconi anaemia, maps to a region of enhanced recombination and is localized between CpG islands.</strong> Hum. Molec. Genet. 1: 325-329, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303209</a>] [<a href="https://doi.org/10.1093/hmg/1.5.325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303209">Steinlein et al. (1992)</a> pointed out that BFNS is in the same region of chromosome 20 (20q13.2-q13.3) as EEGV1 (<a href="/entry/130180">130180</a>) and Fanconi anemia (FA; <a href="/entry/227650">227650</a>) because all 3 loci are linked to the VNTR marker CMM6 (D20S19). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1577466+2918897+1303209" 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 family with a heterogeneous phenotype of neonatal seizures, <a href="#3" class="mim-tip-reference" title="Berkovic, S. F., Kennerson, M. L., Howell, R. A., Scheffer, I. E., Hwang, P. A., Nicholson, G. A. <strong>Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.</strong> Arch. Neurol. 51: 1125-1128, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7980108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7980108</a>] [<a href="https://doi.org/10.1001/archneur.1994.00540230063014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7980108">Berkovic et al. (1994)</a> demonstrated linkage to chromosome 20q (maximum lod score of 3.13 at markers CMM6 and RMR6). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7980108" 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 BFNS1 in the family reported by <a href="#25" class="mim-tip-reference" title="Zimprich, F., Ronen, G. M., Stogmann, W., Baumgartner, C., Stogmann, E., Rett, B., Pappas, C., Leppert, M., Singh, N., Anderson, V. E. <strong>Andreas Rett and benign familial neonatal convulsions revisited.</strong> Neurology 67: 864-866, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16966552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16966552</a>] [<a href="https://doi.org/10.1212/01.wnl.0000234066.46806.90" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16966552">Zimprich et al. (2006)</a>, originally reported by <a href="#18" class="mim-tip-reference" title="Rett, A., Teubel, R. <strong>Neugeborenenkraempfe im Rahmen einer epileptisch belasteten Familie.</strong> Wien. Klin. Wschr. 76: 609-613, 1964."None>Rett and Teubel (1964)</a>, was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16966552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of the family reported by <a href="#3" class="mim-tip-reference" title="Berkovic, S. F., Kennerson, M. L., Howell, R. A., Scheffer, I. E., Hwang, P. A., Nicholson, G. A. <strong>Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.</strong> Arch. Neurol. 51: 1125-1128, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7980108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7980108</a>] [<a href="https://doi.org/10.1001/archneur.1994.00540230063014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7980108">Berkovic et al. (1994)</a>, <a href="#4" class="mim-tip-reference" title="Biervert, C., Schroeder, B. C., Kubisch, C., Berkovic, S. F., Propping, P., Jentsch, T. J., Steinlein, O. K. <strong>A potassium channel mutation in neonatal human epilepsy.</strong> Science 279: 403-406, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9430594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9430594</a>] [<a href="https://doi.org/10.1126/science.279.5349.403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9430594">Biervert et al. (1998)</a> identified a heterozygous truncating mutation in the KCNQ2 gene (<a href="/entry/602235#0003">602235.0003</a>). One mutation carrier was unaffected, consistent with reduced penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9430594+7980108" 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 from 6 families with BFNS, <a href="#21" class="mim-tip-reference" title="Singh, N. A., Charlier, C., Stauffer, D., DuPont, B. R., Leach, R. J., Melis, R., Ronen, G. M., Bjerre, I., Quattlebaum, T., Murphy, J. V., McHarg, M. L., Gagnon, D., Rosales, T. O., Peiffer, A., Anderson, V. E., Leppert, M. <strong>A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.</strong> Nature Genet. 18: 25-29, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9425895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9425895</a>] [<a href="https://doi.org/10.1038/ng0198-25" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9425895">Singh et al. (1998)</a> identified 6 different mutations in the KCNQ2 gene (see, e.g., <a href="/entry/602235#0001">602235.0001</a>-<a href="/entry/602235#0002">602235.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425895" 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 German family with familial neonatal convulsions followed by myokymia, <a href="#8" class="mim-tip-reference" title="Dedek, K., Kunath, B., Kananura, C., Reuner, U., Jentsch, T. J., Steinlein, O. K. <strong>Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K(+) channel.</strong> Proc. Nat. Acad. Sci. 98: 12272-12277, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11572947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11572947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11572947[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.211431298" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11572947">Dedek et al. (2001)</a> identified a heterozygous mutation in the KCNQ2 gene (R207W; <a href="/entry/602235#0006">602235.0006</a>). One of the patients had isolated myokymia without seizures. <a href="#8" class="mim-tip-reference" title="Dedek, K., Kunath, B., Kananura, C., Reuner, U., Jentsch, T. J., Steinlein, O. K. <strong>Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K(+) channel.</strong> Proc. Nat. Acad. Sci. 98: 12272-12277, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11572947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11572947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11572947[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.211431298" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11572947">Dedek et al. (2001)</a> noted that 1 of the main pathophysiologic mechanisms of peripheral nerve hyperexcitability in myokymia is suppression of outward potassium currents (<a href="#14" class="mim-tip-reference" title="Lee, E. K., Maselli, R. A., Ellis, W. G., Agius, M. A. <strong>Morvan's fibrillary chorea: a paraneoplastic manifestation of thymoma.</strong> J. Neurol. Neurosurg. Psychiat. 65: 857-862, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9854961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9854961</a>] [<a href="https://doi.org/10.1136/jnnp.65.6.857" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9854961">Lee et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9854961+11572947" 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 patient with isolated myokymia, <a href="#24" class="mim-tip-reference" title="Wuttke, T. V., Jurkat-Rott, K., Paulus, W., Garncarek, M., Lehmann-Horn, F., Lerche, H. <strong>Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.</strong> Neurology 69: 2045-2053, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17872363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17872363</a>] [<a href="https://doi.org/10.1212/01.wnl.0000275523.95103.36" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17872363">Wuttke et al. (2007)</a> identified a heterozygous mutation in the KCNQ2 gene (R207Q; <a href="/entry/602235#0011">602235.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17872363" 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 the original BFNS1 family reported by <a href="#18" class="mim-tip-reference" title="Rett, A., Teubel, R. <strong>Neugeborenenkraempfe im Rahmen einer epileptisch belasteten Familie.</strong> Wien. Klin. Wschr. 76: 609-613, 1964."None>Rett and Teubel (1964)</a>, <a href="#25" class="mim-tip-reference" title="Zimprich, F., Ronen, G. M., Stogmann, W., Baumgartner, C., Stogmann, E., Rett, B., Pappas, C., Leppert, M., Singh, N., Anderson, V. E. <strong>Andreas Rett and benign familial neonatal convulsions revisited.</strong> Neurology 67: 864-866, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16966552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16966552</a>] [<a href="https://doi.org/10.1212/01.wnl.0000234066.46806.90" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16966552">Zimprich et al. (2006)</a> identified a heterozygous mutation in the KCNQ2 gene (<a href="/entry/602235#0010">602235.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16966552" 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="#11" class="mim-tip-reference" title="Heron, S. E., Cox, K., Grinton, B. E., Zuberi, S. M., Kivity, S., Afawi, Z., Straussberg, R., Berkovic, S. F., Scheffer, I. E., Mulley, J. C. <strong>Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. (Letter)</strong> J. Med. Genet. 44: 791-796, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17675531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17675531</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17675531[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/10.1136/jmg.2007.051938" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17675531">Heron et al. (2007)</a> identified 3 deletions and 1 duplication of more than 1 exon of the KCNQ2 gene in 4 (44%) of 9 unrelated families with benign familial neonatal seizures who had previously tested negative for coding or splice site mutations. The changes were predicted to result in haploinsufficiency. The authors suggested that multiplex ligation-dependent probe amplification (MLPA) should be a second-tier testing strategy in candidate cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17675531" 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 multiplex ligation-dependent probe amplification (MLPA) and FISH analysis, <a href="#13" class="mim-tip-reference" title="Kurahashi, H., Wang, J.-W., Ishii, A., Kojima, T., Wakai, S., Kizawa, T., Fujimoto, Y., Kikkawa, K., Yoshimura, K., Inoue, T., Yasumoto, S., Ogawa, A., Kaneko, S., Hirose, S. <strong>Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures.</strong> Neurology 73: 1214-1217, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19822871/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19822871</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181bc0158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19822871">Kurahashi et al. (2009)</a> identified heterozygous multiple exonic deletions involving the KCNQ2 gene in 4 of 22 probands with BFNS1. The deletions segregated within families, and the phenotypes were typical of BFNS1. In 2 families, the respective 136.4- and 171.8-kb deletions also involved the CHRNA4 gene (<a href="/entry/118504">118504</a>), which is centromeric to the KCNQ2 gene. The phenotype in these 2 families was indistinguishable from those with deletions of KCNQ2 only, and none of these patients showed signs of nocturnal frontal lobe epilepsy (<a href="/entry/600513">600513</a>), which is caused by mutation in the CHRNA4 gene. The findings indicated that haploinsufficiency of KCNQ2 is the underlying mechanism of autosomal dominant BFNS1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19822871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Beck, C., Moulard, B., Steinlein, O., Guipponi, M., Vallee, L., Montpied, P., Baldy-Moulnier, M., Malafosse, A. <strong>A nonsense mutation in the alpha-4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBN1).</strong> Neurobiol. Dis. 1: 95-99, 1994. Note: Erratum: Neurobiol. Dis. 2: 189 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9216991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9216991</a>] [<a href="https://doi.org/10.1006/nbdi.1994.0012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9216991">Beck et al. (1994)</a> noted that the CHRNA4 gene (<a href="/entry/118504">118504</a>) maps to the same region of 20q as the locus for BFNS1, which they referred to as 'EBN1.' They claimed to have detected a nonsense mutation in the CHRNA4 gene that cosegregated with the disorder, but this appears to have been in error because a considerable number of mutations in the KCNQ2 gene have been identified in BFNS1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9216991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Zimprich, F., Ronen, G. M., Stogmann, W., Baumgartner, C., Stogmann, E., Rett, B., Pappas, C., Leppert, M., Singh, N., Anderson, V. E. <strong>Andreas Rett and benign familial neonatal convulsions revisited.</strong> Neurology 67: 864-866, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16966552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16966552</a>] [<a href="https://doi.org/10.1212/01.wnl.0000234066.46806.90" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16966552">Zimprich et al. (2006)</a> provided a historical perspective of the work of Andreas Rett (1924-1997), a pediatric neurologist and social reformer in postwar Austria, who first described BFNC and later delineated Rett syndrome (<a href="/entry/312750">312750</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16966552" 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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Bassi, M. T., Balottin, U., Panzeri, C., Piccinelli, P., Castaldo, P., Barrese, V., Soldovieri, M. V., Miceli, F., Colombo, M., Bresolin, N., Borgatti, R., Taglialatela, M.
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<strong>Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).</strong>
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Neurogenetics 6: 185-193, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16235065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16235065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16235065" 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/s10048-005-0012-2" target="_blank">Full Text</a>]
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Beck, C., Moulard, B., Steinlein, O., Guipponi, M., Vallee, L., Montpied, P., Baldy-Moulnier, M., Malafosse, A.
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<strong>A nonsense mutation in the alpha-4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBN1).</strong>
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Neurobiol. Dis. 1: 95-99, 1994. Note: Erratum: Neurobiol. Dis. 2: 189 only, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9216991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9216991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9216991" 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/10.1006/nbdi.1994.0012" target="_blank">Full Text</a>]
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Berkovic, S. F., Kennerson, M. L., Howell, R. A., Scheffer, I. E., Hwang, P. A., Nicholson, G. A.
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<strong>Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.</strong>
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Arch. Neurol. 51: 1125-1128, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7980108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7980108</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7980108" 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/10.1001/archneur.1994.00540230063014" target="_blank">Full Text</a>]
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Biervert, C., Schroeder, B. C., Kubisch, C., Berkovic, S. F., Propping, P., Jentsch, T. J., Steinlein, O. K.
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<strong>A potassium channel mutation in neonatal human epilepsy.</strong>
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Science 279: 403-406, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9430594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9430594</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9430594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Benign familial neonatal convulsions.</strong>
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Acta Paediat. Scand. 57: 557-561, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5706374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5706374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5706374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1968.tb06980.x" target="_blank">Full Text</a>]
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Wuttke, T. V., Jurkat-Rott, K., Paulus, W., Garncarek, M., Lehmann-Horn, F., Lerche, H.
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<strong>Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.</strong>
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Neurology 69: 2045-2053, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17872363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17872363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17872363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000275523.95103.36" target="_blank">Full Text</a>]
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Zimprich, F., Ronen, G. M., Stogmann, W., Baumgartner, C., Stogmann, E., Rett, B., Pappas, C., Leppert, M., Singh, N., Anderson, V. E.
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<strong>Andreas Rett and benign familial neonatal convulsions revisited.</strong>
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Neurology 67: 864-866, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16966552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16966552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16966552" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000234066.46806.90" target="_blank">Full Text</a>]
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Zonana, J., Silvey, K., Strimling, B.
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<strong>Familial neonatal and infantile seizures: an autosomal-dominant disorder.</strong>
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Am. J. Med. Genet. 18: 455-459, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6476007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6476007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6476007" 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/ajmg.1320180315" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 3/24/2011
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Cassandra L. Kniffin - updated : 10/15/2009<br>Cassandra L. Kniffin - updated : 1/9/2008<br>Cassandra L. Kniffin - updated : 7/31/2007<br>Cassandra L. Kniffin - updated : 2/22/2005<br>Cassandra L. Kniffin - reorganized : 6/23/2004<br>Victor A. McKusick - updated : 10/29/2001<br>Victor A. McKusick - updated : 12/30/1997<br>Victor A. McKusick - updated : 4/18/1997
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Victor A. McKusick : 6/4/1986
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alopez : 12/15/2022
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carol : 12/07/2020<br>carol : 12/04/2020<br>ckniffin : 10/13/2020<br>carol : 04/21/2018<br>carol : 04/20/2018<br>carol : 08/09/2016<br>carol : 08/05/2016<br>wwang : 04/08/2011<br>ckniffin : 3/24/2011<br>carol : 2/10/2011<br>ckniffin : 2/9/2011<br>wwang : 11/13/2009<br>ckniffin : 10/15/2009<br>carol : 10/5/2009<br>ckniffin : 9/11/2009<br>wwang : 1/23/2008<br>ckniffin : 1/9/2008<br>wwang : 8/20/2007<br>ckniffin : 7/31/2007<br>wwang : 2/25/2005<br>ckniffin : 2/23/2005<br>ckniffin : 2/22/2005<br>carol : 6/23/2004<br>ckniffin : 6/14/2004<br>tkritzer : 10/31/2003<br>ckniffin : 10/31/2003<br>alopez : 11/1/2001<br>terry : 10/29/2001<br>carol : 6/30/1999<br>alopez : 1/7/1998<br>terry : 1/6/1998<br>joanna : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>jenny : 4/15/1997<br>mark : 5/18/1995<br>carol : 2/17/1995<br>davew : 8/17/1994<br>mimadm : 6/25/1994<br>carol : 9/17/1993<br>carol : 11/12/1992
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<strong>#</strong> 121200
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SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1
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Other entities represented in this entry:
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EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED
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SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED
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<strong>ORPHA:</strong> 1949;
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<strong>DO:</strong> 14264;
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Phenotype
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Inheritance
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20q13.33
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Seizures, benign neonatal, 1
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121200
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Autosomal dominant
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3
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KCNQ2
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602235
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20q13.33
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Myokymia
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121200
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Autosomal dominant
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3
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KCNQ2
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602235
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that benign familial neonatal seizures-1 (BFNS1) is caused by heterozygous mutation in the KCNQ2 gene (602235) on chromosome 20q13.</p><p>Some patients with KCNQ2 mutations have a more severe seizure disorder, consistent with developmental and epileptic encephalopathy-7 (DEE7; 613720).</p>
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<strong>Description</strong>
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<p>Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1; 601764) by an earlier age at onset.</p><p>Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. </p><p><strong><em>Genetic Heterogeneity of Benign Familial Neonatal Seizures</em></strong></p><p>
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See also BFNS2 (121201), which is caused by mutation in the KCNQ3 gene (602232) on chromosome 8q24, and BFNS3 (608217), which has been associated with a pericentric inversion on chromosome 5. See 269720 for a possible autosomal recessive form.</p>
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<strong>Clinical Features</strong>
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<p>Rett and Teubel (1964) and Bjerre and Corelius (1968) reported families in which multiple persons had neonatal convulsions that cleared spontaneously after a few weeks and were followed by normal psychomotor development. Inheritance was autosomal dominant. Pyridoxine dependency was excluded in all. Zimprich et al. (2006) provided follow-up of the original family reported by Rett and Teubel (1964). There were 9 affected individuals spanning 4 generations. The 2 index patients had their first seizures on the third day of life. Seizures recurred 15 to 20 times daily for the first few weeks and then remitted. Seizures started uniformly with brief generalized tonic posturing and cyanosis followed by a generalized clonic phase including facial and ocular manifestations. Unilateral or focal features were not observed, and 9 of 10 seizures occurred during sleep. Later in childhood, 3 of the 9 affected individuals developed nocturnal generalized tonic-clonic seizures; 2 of the 3 also had simple focal orofacial seizures. </p><p>In the case reported by Carton (1978), strong paroxysmal fetal movements were perceived during the last 2 months of pregnancy, possibly indicating intrauterine convulsions. Herranz and Arce (1979) reported 13 affected persons in 5 generations of a family. No convulsions occurred after the 40th day of life, and development in all but one was normal. </p><p>Pettit and Fenichel (1980) reported a family with 5 affected members. One patient died during a cyanotic spell, and the remainder were developmentally and neurologically normal, although 3 continued to have seizure disorders as adults. Tibbles (1980) described 3 families with benign neonatal seizures with male-to-male transmission in 2 of them. Tibbles (1980) suggested that persons with this disorder have an increased risk of the later development of epilepsy. Dobrescu and Larbrisseau (1982) described a family with 12 affected members in 3 generations. </p><p>Zonana et al. (1984) reported a family with 6 affected individuals in 3 generations. Analysis of the clinical features of their family and of 15 previously reported families (116 patients total) revealed a typical clinical phenotype with onset of seizures by 2 to 8 days of life and cessation of seizures by 1 to 6 months. Long-term neurodevelopmental outcome was normal, except for an increased rate (11%) of subsequent seizures in childhood or adulthood. Cunniff et al. (1988) described a family with 8 affected persons in 2 generations. </p><p>Ryan et al. (1991) reported an affected family with a variable phenotype: seizures frequently did not remit until 6 to 24 months; febrile convulsions occurred in at least 2 patients; apparent audiogenic seizures occurred in 4 patients; and 1 individual had refractory epilepsy until late adolescence. The family showed linkage to chromosome 20q. </p><p>On the basis of a kindred with 69 affected individuals, Ronen et al. (1993) defined the seizure characteristics in chromosome 20-linked BFNC. Seizure onset occurred on day 3 in 42%, and remission took place in 68% during the first 6 weeks. Seizures were brief and of a mixed type, starting with tonic posture, ocular symptoms, apnea, and other autonomic features. The seizure often progressed to clonic movements and motor automatisms. The postictal state was brief, and interictally the neonates looked well. The ictal EEG pattern showed with generalized suppression of amplitude on onset. Neurocognitive outcome was usually normal, but the risk for subsequent epilepsy was 16%. Most of the later epilepsy was generalized tonic or tonic-clonic, and some seizures were provoked, raising the possibility of an unusual form of reflex epilepsy. </p><p>In a large family in which 13 individuals had benign neonatal convulsions, Berkovic et al. (1994) found that 10 patients had neonatal seizures and 4 had febrile seizures, including 2 without neonatal convulsions. Two individuals had afebrile seizures later, 1 of whom had not previously demonstrated neonatal or febrile seizures. Three obligate carriers had no known seizures. The authors emphasized the phenotypic heterogeneity. </p><p>Bassi et al. (2005) reported a large Italian family in which 8 individuals had BFNS1. A ninth family member developed severe epilepsy associated with mild mental retardation and persistent neurologic problems in adult life; this phenotypic variability was considered by the authors to be consistent with the fact that 10 to 15% of BFNC individuals experience seizures later in life. Genetic analysis identified a heterozygous truncating mutation in the KCNQ2 gene (602235.0009) in all 9 members. </p><p><strong><em>Benign Familial Neonatal Seizures 1 and/or Myokymia</em></strong></p><p>
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Dedek et al. (2001) reported a German family in which twin sisters had BFNS. Both later had grand mal seizures at ages 2 and 12 to 13 years, some of which were associated with fever. Both complained about exercise-induced myalgia in preschool, but this resolved by adolescence. Both girls also developed myokymia later in childhood, characterized by involuntary movements of the limbs, fingers, and toes, and spontaneous repetitive discharges on EMG. Both had mild learning disabilities. A half-sister had recurrent neonatal convulsions with tonic and/or clonic limb movements in infancy. Myokymia became apparent at age 3 years. A son of 1 of the twins had neonatal convulsions without neurologic abnormalities or myokymia at age 1 year. However, EMG showed spontaneous discharges of grouped motor unit potentials, consistent with myokymic discharges. Inheritance was autosomal dominant. </p><p>Wuttke et al. (2007) reported a 25-year-old Egyptian man with isolated myokymia and no history of neonatal seizures. There was no family history of epilepsy or peripheral nerve hyperexcitability. Clinically, the patient had had permanent muscle overactivity in the distal upper extremities and small amplitude movements of the fingers, which were not disabling. However, he also reported exercise-induced cramps of both hands since childhood and 4 episodes of exercise-induced generalized muscle stiffness. EMG showed spontaneous irregular discharges consistent with myokymia. He showed a favorable response to treatment with retigabine. </p>
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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>By linkage to RFLP markers, Leppert et al. (1989) demonstrated that a gene for benign neonatal seizures is located on chromosome 20. Malafosse et al. (1992) confirmed the assignment to 20q by demonstrating linkage to D20S19 and D20S20 in 6 French pedigrees. In the families studied, there were several cases of febrile convulsions. Malafosse et al. (1992) concluded that different susceptibility genes are responsible for febrile convulsions and benign neonatal seizures. Steinlein et al. (1992) pointed out that BFNS is in the same region of chromosome 20 (20q13.2-q13.3) as EEGV1 (130180) and Fanconi anemia (FA; 227650) because all 3 loci are linked to the VNTR marker CMM6 (D20S19). </p><p>In a family with a heterogeneous phenotype of neonatal seizures, Berkovic et al. (1994) demonstrated linkage to chromosome 20q (maximum lod score of 3.13 at markers CMM6 and RMR6). </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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<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 BFNS1 in the family reported by Zimprich et al. (2006), originally reported by Rett and Teubel (1964), 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>Molecular Genetics</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>In affected members of the family reported by Berkovic et al. (1994), Biervert et al. (1998) identified a heterozygous truncating mutation in the KCNQ2 gene (602235.0003). One mutation carrier was unaffected, consistent with reduced penetrance. </p><p>In affected members from 6 families with BFNS, Singh et al. (1998) identified 6 different mutations in the KCNQ2 gene (see, e.g., 602235.0001-602235.0002). </p><p>In affected members of a German family with familial neonatal convulsions followed by myokymia, Dedek et al. (2001) identified a heterozygous mutation in the KCNQ2 gene (R207W; 602235.0006). One of the patients had isolated myokymia without seizures. Dedek et al. (2001) noted that 1 of the main pathophysiologic mechanisms of peripheral nerve hyperexcitability in myokymia is suppression of outward potassium currents (Lee et al., 1998). </p><p>In a patient with isolated myokymia, Wuttke et al. (2007) identified a heterozygous mutation in the KCNQ2 gene (R207Q; 602235.0011). </p><p>In affected members of the original BFNS1 family reported by Rett and Teubel (1964), Zimprich et al. (2006) identified a heterozygous mutation in the KCNQ2 gene (602235.0010). </p><p>Heron et al. (2007) identified 3 deletions and 1 duplication of more than 1 exon of the KCNQ2 gene in 4 (44%) of 9 unrelated families with benign familial neonatal seizures who had previously tested negative for coding or splice site mutations. The changes were predicted to result in haploinsufficiency. The authors suggested that multiplex ligation-dependent probe amplification (MLPA) should be a second-tier testing strategy in candidate cases. </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>Cytogenetics</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 multiplex ligation-dependent probe amplification (MLPA) and FISH analysis, Kurahashi et al. (2009) identified heterozygous multiple exonic deletions involving the KCNQ2 gene in 4 of 22 probands with BFNS1. The deletions segregated within families, and the phenotypes were typical of BFNS1. In 2 families, the respective 136.4- and 171.8-kb deletions also involved the CHRNA4 gene (118504), which is centromeric to the KCNQ2 gene. The phenotype in these 2 families was indistinguishable from those with deletions of KCNQ2 only, and none of these patients showed signs of nocturnal frontal lobe epilepsy (600513), which is caused by mutation in the CHRNA4 gene. The findings indicated that haploinsufficiency of KCNQ2 is the underlying mechanism of autosomal dominant BFNS1. </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>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Beck et al. (1994) noted that the CHRNA4 gene (118504) maps to the same region of 20q as the locus for BFNS1, which they referred to as 'EBN1.' They claimed to have detected a nonsense mutation in the CHRNA4 gene that cosegregated with the disorder, but this appears to have been in error because a considerable number of mutations in the KCNQ2 gene have been identified in BFNS1. </p><p>Zimprich et al. (2006) provided a historical perspective of the work of Andreas Rett (1924-1997), a pediatric neurologist and social reformer in postwar Austria, who first described BFNC and later delineated Rett syndrome (312750). </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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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<p class="mim-text-font">
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Wuttke, T. V., Jurkat-Rott, K., Paulus, W., Garncarek, M., Lehmann-Horn, F., Lerche, H.
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<p class="mim-text-font">
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Zimprich, F., Ronen, G. M., Stogmann, W., Baumgartner, C., Stogmann, E., Rett, B., Pappas, C., Leppert, M., Singh, N., Anderson, V. E.
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<strong>Andreas Rett and benign familial neonatal convulsions revisited.</strong>
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[Full Text: https://doi.org/10.1212/01.wnl.0000234066.46806.90]
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Zonana, J., Silvey, K., Strimling, B.
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<strong>Familial neonatal and infantile seizures: an autosomal-dominant disorder.</strong>
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Am. J. Med. Genet. 18: 455-459, 1984.
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[PubMed: 6476007]
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[Full Text: https://doi.org/10.1002/ajmg.1320180315]
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Cassandra L. Kniffin - updated : 3/24/2011<br>Cassandra L. Kniffin - updated : 10/15/2009<br>Cassandra L. Kniffin - updated : 1/9/2008<br>Cassandra L. Kniffin - updated : 7/31/2007<br>Cassandra L. Kniffin - updated : 2/22/2005<br>Cassandra L. Kniffin - reorganized : 6/23/2004<br>Victor A. McKusick - updated : 10/29/2001<br>Victor A. McKusick - updated : 12/30/1997<br>Victor A. McKusick - updated : 4/18/1997
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Victor A. McKusick : 6/4/1986
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alopez : 12/15/2022<br>carol : 12/07/2020<br>carol : 12/04/2020<br>ckniffin : 10/13/2020<br>carol : 04/21/2018<br>carol : 04/20/2018<br>carol : 08/09/2016<br>carol : 08/05/2016<br>wwang : 04/08/2011<br>ckniffin : 3/24/2011<br>carol : 2/10/2011<br>ckniffin : 2/9/2011<br>wwang : 11/13/2009<br>ckniffin : 10/15/2009<br>carol : 10/5/2009<br>ckniffin : 9/11/2009<br>wwang : 1/23/2008<br>ckniffin : 1/9/2008<br>wwang : 8/20/2007<br>ckniffin : 7/31/2007<br>wwang : 2/25/2005<br>ckniffin : 2/23/2005<br>ckniffin : 2/22/2005<br>carol : 6/23/2004<br>ckniffin : 6/14/2004<br>tkritzer : 10/31/2003<br>ckniffin : 10/31/2003<br>alopez : 11/1/2001<br>terry : 10/29/2001<br>carol : 6/30/1999<br>alopez : 1/7/1998<br>terry : 1/6/1998<br>joanna : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>mark : 4/18/1997<br>jenny : 4/15/1997<br>mark : 5/18/1995<br>carol : 2/17/1995<br>davew : 8/17/1994<br>mimadm : 6/25/1994<br>carol : 9/17/1993<br>carol : 11/12/1992
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