2476 lines
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Entry
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- #617080 - SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5
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- OMIM
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<p>
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<span class="h4">#617080</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/617080"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS601764"> <strong>Phenotypic Series</strong> </a>
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<li role="presentation">
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=SEIZURES, BENIGN FAMILIAL INFANTILE" 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=3651&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/NBK379665/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=617080[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=306" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0081118" 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/617080" 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/OMIA002194/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 306<br />
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<strong>DO:</strong> 0081118<br />
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">ICD+</a>
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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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617080
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</span>
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</span>
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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 INFANTILE, 5; BFIS5
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5; BFIC5
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/12/390?start=-3&limit=10&highlight=390">
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12q13.13
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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 familial infantile, 5
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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/617080"> 617080 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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SCN8A
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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/600702"> 600702 </a>
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</span>
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</td>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/617080" 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="sr-only">Toggle Dropdown</span>
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<a href="/phenotypicSeries/PS601764" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/617080" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/617080" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Seizures, 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 /> -
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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 /> -
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Focal seizures with impaired consciousness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4313855&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4313855</a>]</span><br /> -
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|
Paroxysmal kinesigenic choreoathetosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/609221008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">609221008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868682</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
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- Onset between 6 and 12 months<br /> -
|
|
Seizures are well-controlled by sodium channel blockers<br /> -
|
|
Seizures tend to remit by age 2 years<br /> -
|
|
Some patients may have single seizures later in childhood<br /> -
|
|
Favorable prognosis<br />
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </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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|
|
- Caused by mutation in the sodium channel, voltage-gated type VIII, alpha subunit gene (SCN8A, <a href="/entry/600702#0010">600702.0010</a>)<br />
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|
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
|
</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">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Seizures, benign familial infantile
|
|
- <a href="/phenotypicSeries/PS601764">PS601764</a>
|
|
- 6 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/237?start=-3&limit=10&highlight=237"> 1p36.12-p35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612627"> Seizures, benign familial infantile, 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612627"> 612627 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612627"> BFIS4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612627"> 612627 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/736?start=-3&limit=10&highlight=736"> 2q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607745"> Seizures, benign familial infantile, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607745"> 607745 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182390"> SCN2A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/182390"> 182390 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/151?start=-3&limit=10&highlight=151"> 8p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610353"> Epilepsy, nocturnal frontal lobe, type 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610353"> 610353 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118502"> CHRNA2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118502"> 118502 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/390?start=-3&limit=10&highlight=390"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617080"> Seizures, benign familial infantile, 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617080"> 617080 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600702"> SCN8A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600702"> 600702 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/330?start=-3&limit=10&highlight=330"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605751"> Seizures, benign familial infantile, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605751"> 605751 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614386"> PRRT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614386"> 614386 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/519?start=-3&limit=10&highlight=519"> 19q </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601764"> Seizures, benign familial infantile, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
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<p>A number sign (#) is used with this entry because of evidence that benign familial infantile seizures-5 (BFIS5) is caused by heterozygous mutation in the SCN8A gene (<a href="/entry/600702">600702</a>) on chromosome 12q13.</p><p>Heterozygous mutation in the SCN8A gene can also cause the more severe disorder developmental and epileptic encephalopathy-13 (DEE13; <a href="/entry/614558">614558</a>).</p>
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<p>Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by <a href="#2" class="mim-tip-reference" title="Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmuller, J., Syrbe, S., Merkenschlager, A., and 16 others. <strong>Benign infantile seizure and paroxysmal dyskinesia caused by an SCN8A mutation.</strong> Ann. Neurol. 79: 428-436, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26677014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26677014</a>] [<a href="https://doi.org/10.1002/ana.24580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26677014">Gardella et al., 2016</a> and <a href="#1" class="mim-tip-reference" title="Anand, G., Collett-White, F., Orsini, A., Thomas, S., Jayapal, S., Trump, N., Zaiwalla, Z., Jayawant, S. <strong>Autosomal dominant SCN8A mutation with an unusually mild phenotype.</strong> Europ. J. Paediat. Neurol. 20: 761-765, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27210545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27210545</a>] [<a href="https://doi.org/10.1016/j.ejpn.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27210545">Anand et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27210545+26677014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (<a href="/entry/601764">601764</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmuller, J., Syrbe, S., Merkenschlager, A., and 16 others. <strong>Benign infantile seizure and paroxysmal dyskinesia caused by an SCN8A mutation.</strong> Ann. Neurol. 79: 428-436, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26677014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26677014</a>] [<a href="https://doi.org/10.1002/ana.24580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26677014">Gardella et al. (2016)</a> reported 16 individuals from 3 unrelated families with a benign seizure disorder beginning in most patients between 6 and 12 months of age. Only 1 patient had later onset of seizures at age 7 years. Most seizures were generalized tonic-clonic, and some were focal with impaired consciousness. The seizures were well-controlled and remitted in almost all patients by 14 months of age. Four patients had single seizures later in childhood or in their teens, and 1 had several additional seizures during young adulthood. Five patients from 2 families also developed paroxysmal kinesigenic dyskinesia with shivering or dystonia around puberty. <a href="#2" class="mim-tip-reference" title="Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmuller, J., Syrbe, S., Merkenschlager, A., and 16 others. <strong>Benign infantile seizure and paroxysmal dyskinesia caused by an SCN8A mutation.</strong> Ann. Neurol. 79: 428-436, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26677014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26677014</a>] [<a href="https://doi.org/10.1002/ana.24580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26677014">Gardella et al. (2016)</a> noted that the dyskinesia was reminiscent of 'infantile convulsions and paroxysmal choreoathetosis' (ICCA; <a href="/entry/602066">602066</a>), caused by mutation in the PRRT2 gene (<a href="/entry/614386">614386</a>). All patients had normal cognitive function and normal neurologic examinations, except for 1 child who had a mild learning disability. Brain imaging was normal in all 6 patients who underwent imaging. Video-EEG of 1 of the patients with dyskinesia suggested focal cortical impairment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26677014" 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="Anand, G., Collett-White, F., Orsini, A., Thomas, S., Jayapal, S., Trump, N., Zaiwalla, Z., Jayawant, S. <strong>Autosomal dominant SCN8A mutation with an unusually mild phenotype.</strong> Europ. J. Paediat. Neurol. 20: 761-765, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27210545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27210545</a>] [<a href="https://doi.org/10.1016/j.ejpn.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27210545">Anand et al. (2016)</a> reported a father and son with BFIS5. The son, who was the proband, was a 16-month-old Caucasian boy who presented with afebrile seizures at 5 months of age. Brain imaging was normal. The seizures were responsive to carbamazepine treatment, and he had normal psychomotor development. His 42-year-old father presented with seizures at age 4 months, and he has remained seizure-free on sodium valproate. He had normal psychomotor development and cognition. <a href="#1" class="mim-tip-reference" title="Anand, G., Collett-White, F., Orsini, A., Thomas, S., Jayapal, S., Trump, N., Zaiwalla, Z., Jayawant, S. <strong>Autosomal dominant SCN8A mutation with an unusually mild phenotype.</strong> Europ. J. Paediat. Neurol. 20: 761-765, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27210545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27210545</a>] [<a href="https://doi.org/10.1016/j.ejpn.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27210545">Anand et al. (2016)</a> noted that both patients responded well to sodium channel blockers, which is the precise treatment for SCN8A epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27210545" 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 BFIS5 in the families reported by <a href="#2" class="mim-tip-reference" title="Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmuller, J., Syrbe, S., Merkenschlager, A., and 16 others. <strong>Benign infantile seizure and paroxysmal dyskinesia caused by an SCN8A mutation.</strong> Ann. Neurol. 79: 428-436, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26677014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26677014</a>] [<a href="https://doi.org/10.1002/ana.24580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26677014">Gardella et al. (2016)</a> was consistent with autosomal dominant inheritance and incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26677014" 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 16 patients from 3 unrelated families with BFIS5, <a href="#2" class="mim-tip-reference" title="Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmuller, J., Syrbe, S., Merkenschlager, A., and 16 others. <strong>Benign infantile seizure and paroxysmal dyskinesia caused by an SCN8A mutation.</strong> Ann. Neurol. 79: 428-436, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26677014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26677014</a>] [<a href="https://doi.org/10.1002/ana.24580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26677014">Gardella et al. (2016)</a> identified the same heterozygous missense mutation in the SCN8A gene (E1483K; <a href="/entry/600702#0010">600702.0010</a>). The mutation in 2 families was found by exome sequencing; the mutation segregated with the disorder in all families. Linkage analysis excluded a founder effect. Although functional studies of the mutation were not performed, <a href="#2" class="mim-tip-reference" title="Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmuller, J., Syrbe, S., Merkenschlager, A., and 16 others. <strong>Benign infantile seizure and paroxysmal dyskinesia caused by an SCN8A mutation.</strong> Ann. Neurol. 79: 428-436, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26677014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26677014</a>] [<a href="https://doi.org/10.1002/ana.24580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26677014">Gardella et al. (2016)</a> postulated that it caused a small gain-of-function effect resulting from impaired channel inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26677014" 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 father and son with BFIS5, <a href="#1" class="mim-tip-reference" title="Anand, G., Collett-White, F., Orsini, A., Thomas, S., Jayapal, S., Trump, N., Zaiwalla, Z., Jayawant, S. <strong>Autosomal dominant SCN8A mutation with an unusually mild phenotype.</strong> Europ. J. Paediat. Neurol. 20: 761-765, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27210545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27210545</a>] [<a href="https://doi.org/10.1016/j.ejpn.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27210545">Anand et al. (2016)</a> identified a heterozygous missense mutation in the SCN8A gene (N1877S; <a href="/entry/600702#0011">600702.0011</a>). Functional studies of the variant were not performed, but <a href="#1" class="mim-tip-reference" title="Anand, G., Collett-White, F., Orsini, A., Thomas, S., Jayapal, S., Trump, N., Zaiwalla, Z., Jayawant, S. <strong>Autosomal dominant SCN8A mutation with an unusually mild phenotype.</strong> Europ. J. Paediat. Neurol. 20: 761-765, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27210545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27210545</a>] [<a href="https://doi.org/10.1016/j.ejpn.2016.04.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27210545">Anand et al. (2016)</a> noted that the same variant has been identified in patients with a more severe disorder, including developmental delay, epileptic encephalopathy, and intellectual disability (DEE13). The benign phenotype in the father and son suggested that they may carry additional variants in other genes that offer a protective effect. Sanger sequencing excluded somatic mosaicism for the SCN8A mutation in the father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27210545" 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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Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmuller, J., Syrbe, S., Merkenschlager, A., and 16 others.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26677014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26677014</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26677014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin : 08/17/2016
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carol : 03/30/2021
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carol : 12/04/2020<br>carol : 08/22/2016<br>ckniffin : 08/18/2016
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<strong>#</strong> 617080
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SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5
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CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5; BFIC5
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<strong>ORPHA:</strong> 306;
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<strong>DO:</strong> 0081118;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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12q13.13
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Seizures, benign familial infantile, 5
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617080
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Autosomal dominant
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3
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SCN8A
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600702
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<p>A number sign (#) is used with this entry because of evidence that benign familial infantile seizures-5 (BFIS5) is caused by heterozygous mutation in the SCN8A gene (600702) on chromosome 12q13.</p><p>Heterozygous mutation in the SCN8A gene can also cause the more severe disorder developmental and epileptic encephalopathy-13 (DEE13; 614558).</p>
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<strong>Description</strong>
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<p>Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by Gardella et al., 2016 and Anand et al., 2016). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764).</p>
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<p>Gardella et al. (2016) reported 16 individuals from 3 unrelated families with a benign seizure disorder beginning in most patients between 6 and 12 months of age. Only 1 patient had later onset of seizures at age 7 years. Most seizures were generalized tonic-clonic, and some were focal with impaired consciousness. The seizures were well-controlled and remitted in almost all patients by 14 months of age. Four patients had single seizures later in childhood or in their teens, and 1 had several additional seizures during young adulthood. Five patients from 2 families also developed paroxysmal kinesigenic dyskinesia with shivering or dystonia around puberty. Gardella et al. (2016) noted that the dyskinesia was reminiscent of 'infantile convulsions and paroxysmal choreoathetosis' (ICCA; 602066), caused by mutation in the PRRT2 gene (614386). All patients had normal cognitive function and normal neurologic examinations, except for 1 child who had a mild learning disability. Brain imaging was normal in all 6 patients who underwent imaging. Video-EEG of 1 of the patients with dyskinesia suggested focal cortical impairment. </p><p>Anand et al. (2016) reported a father and son with BFIS5. The son, who was the proband, was a 16-month-old Caucasian boy who presented with afebrile seizures at 5 months of age. Brain imaging was normal. The seizures were responsive to carbamazepine treatment, and he had normal psychomotor development. His 42-year-old father presented with seizures at age 4 months, and he has remained seizure-free on sodium valproate. He had normal psychomotor development and cognition. Anand et al. (2016) noted that both patients responded well to sodium channel blockers, which is the precise treatment for SCN8A epilepsy. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of BFIS5 in the families reported by Gardella et al. (2016) was consistent with autosomal dominant inheritance and incomplete penetrance. </p>
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<strong>Molecular Genetics</strong>
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<p>In 16 patients from 3 unrelated families with BFIS5, Gardella et al. (2016) identified the same heterozygous missense mutation in the SCN8A gene (E1483K; 600702.0010). The mutation in 2 families was found by exome sequencing; the mutation segregated with the disorder in all families. Linkage analysis excluded a founder effect. Although functional studies of the mutation were not performed, Gardella et al. (2016) postulated that it caused a small gain-of-function effect resulting from impaired channel inactivation. </p><p>In a father and son with BFIS5, Anand et al. (2016) identified a heterozygous missense mutation in the SCN8A gene (N1877S; 600702.0011). Functional studies of the variant were not performed, but Anand et al. (2016) noted that the same variant has been identified in patients with a more severe disorder, including developmental delay, epileptic encephalopathy, and intellectual disability (DEE13). The benign phenotype in the father and son suggested that they may carry additional variants in other genes that offer a protective effect. Sanger sequencing excluded somatic mosaicism for the SCN8A mutation in the father. </p>
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<strong>REFERENCES</strong>
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Anand, G., Collett-White, F., Orsini, A., Thomas, S., Jayapal, S., Trump, N., Zaiwalla, Z., Jayawant, S.
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<strong>Autosomal dominant SCN8A mutation with an unusually mild phenotype.</strong>
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Europ. J. Paediat. Neurol. 20: 761-765, 2016.
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[PubMed: 27210545]
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[Full Text: https://doi.org/10.1016/j.ejpn.2016.04.015]
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Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmuller, J., Syrbe, S., Merkenschlager, A., and 16 others.
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<strong>Benign infantile seizure and paroxysmal dyskinesia caused by an SCN8A mutation.</strong>
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Ann. Neurol. 79: 428-436, 2016.
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[PubMed: 26677014]
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[Full Text: https://doi.org/10.1002/ana.24580]
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Cassandra L. Kniffin : 08/17/2016
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carol : 03/30/2021<br>carol : 12/04/2020<br>carol : 08/22/2016<br>ckniffin : 08/18/2016
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</body>
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</html>
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