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Entry
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- #600513 - EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1
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- OMIM
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<p>
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<span class="h4">#600513</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/600513"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS600513"> <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="#otherFeatures">Other Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</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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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li 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 style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=EPILEPSY, NOCTURNAL FRONTAL LOBE" 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=13801&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/NBK1169/" 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/8331" 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=600513[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=98784" 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="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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<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:0060682" 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/600513" 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/OMIA000344/" 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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<div><a href="https://wormbase.org/resources/disease/DOID:0060682" 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> 98784<br />
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<strong>DO:</strong> 0060682<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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600513
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</span>
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</span>
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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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EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1
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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="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/20/470?start=-3&limit=10&highlight=470">
|
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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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Epilepsy, nocturnal frontal lobe, 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/600513"> 600513 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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CHRNA4
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/118504"> 118504 </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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<div class="btn-group ">
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<a href="/clinicalSynopsis/600513" 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/PS600513" 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/600513" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/600513" 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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- Motor seizures, nocturnal, usually occur in clusters (up to 8 per night) during dozing or on awakening <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677455&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677455</a>]</span><br /> -
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Arm flexion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838053</a>]</span><br /> -
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Tonic head extension <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838054&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838054</a>]</span><br /> -
|
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Unintelligible speech <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289194007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289194007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0566625&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0566625</a>]</span><br /> -
|
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Mouth movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838055</a>]</span><br /> -
|
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Aura may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838056&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838056</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18618006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18618006</a>]</span><br /> -
|
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Ictal EEG showed partial seizures with frontal lobe origin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838057</a>]</span><br /> -
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Mental retardation (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</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">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</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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|
|
- Onset in childhood<br /> -
|
|
May be misdiagnosed as nightmares, night terrors, parasomnias, or psychiatric disorders<br /> -
|
|
Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</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>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the neuronal nicotinic cholinergic receptor, alpha polypeptide 4 gene (CHRNA4, <a href="/entry/118504#0002">118504.0002</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>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Epilepsy, nocturnal frontal lobe
|
|
- <a href="/phenotypicSeries/PS600513">PS600513</a>
|
|
- 5 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/1/1193?start=-3&limit=10&highlight=1193"> 1q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605375"> Epilepsy, nocturnal frontal lobe, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</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/605375"> 605375 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118507"> CHRNB2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/118507"> 118507 </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/9/642?start=-3&limit=10&highlight=642"> 9q34.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615005"> Epilepsy nocturnal frontal lobe, 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/615005"> 615005 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608167"> KCNT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608167"> 608167 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/355?start=-3&limit=10&highlight=355"> 15q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603204"> Epilepsy, nocturnal frontal lobe, type 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<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/603204"> 603204 </a>
|
|
</span>
|
|
</td>
|
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<p>A number sign (#) is used with this entry because of evidence that nocturnal frontal lobe epilepsy-1 (ENFL1) is caused by heterozygous mutation in the gene encoding the neuronal nicotinic acetylcholine receptor (nAChR) alpha-4 subunit (CHRNA4; <a href="/entry/118504">118504</a>) on chromosome 20q13.</p>
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<p>Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life (Scheffer et al. (<a href="#9" class="mim-tip-reference" title="Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, F., Andermann, E., Desbiens, R., Cendes, F., Manson, J. I., Berkovic, S. F. <strong>Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder.</strong> Lancet 343: 515-517, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7906762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7906762</a>] [<a href="https://doi.org/10.1016/s0140-6736(94)91463-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7906762">1994</a>, <a href="#8" class="mim-tip-reference" title="Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, E., Andermann, F., Desbiens, R., Keene, D., Cendes, F., Manson, J. I., Constantinou, J. E. C., McIntosh, A., Berkovic, S. F. <strong>Autosomal dominant nocturnal frontal epilepsy: a distinctive clinical disorder.</strong> Brain 118: 61-73, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7895015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7895015</a>] [<a href="https://doi.org/10.1093/brain/118.1.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7895015">1995</a>)). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families (<a href="#3" class="mim-tip-reference" title="Hayman, M., Scheffer, I. E., Chinvarun, Y., Berlangieri, S. U., Berkovic, S. F. <strong>Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation.</strong> Neurology 49: 969-975, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9339675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9339675</a>] [<a href="https://doi.org/10.1212/wnl.49.4.969" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9339675">Hayman et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7895015+9339675+7906762" 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 Nocturnal Frontal Lobe Epilepsy</em></strong></p><p>
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Nocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 (<a href="/entry/603204">603204</a>), which maps to chromosome 15q24; ENFL3 (<a href="/entry/605375">605375</a>), caused by mutation in the CHRNB2 gene (<a href="/entry/118507">118507</a>) on chromosome 1q21; ENFL4 (<a href="/entry/610353">610353</a>), caused by mutation in the CHRNA2 gene (<a href="/entry/118502">118502</a>) on chromosome 8p21; and ENFL5 (<a href="/entry/615005">615005</a>), caused by mutation in the KCNT1 gene (<a href="/entry/608167">608167</a>) on chromosome 9q34.</p><p>Nocturnal frontal lobe seizures are also observed in some patients with familial focal epilepsy with variable foci (FFEVF; <a href="/entry/604364">604364</a>), caused by mutation in the DEPDC5 gene (<a href="/entry/614191">614191</a>) on chromosome 22q12.</p>
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<p><a href="#9" class="mim-tip-reference" title="Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, F., Andermann, E., Desbiens, R., Cendes, F., Manson, J. I., Berkovic, S. F. <strong>Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder.</strong> Lancet 343: 515-517, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7906762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7906762</a>] [<a href="https://doi.org/10.1016/s0140-6736(94)91463-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7906762">Scheffer et al. (1994)</a> and <a href="#8" class="mim-tip-reference" title="Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, E., Andermann, F., Desbiens, R., Keene, D., Cendes, F., Manson, J. I., Constantinou, J. E. C., McIntosh, A., Berkovic, S. F. <strong>Autosomal dominant nocturnal frontal epilepsy: a distinctive clinical disorder.</strong> Brain 118: 61-73, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7895015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7895015</a>] [<a href="https://doi.org/10.1093/brain/118.1.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7895015">Scheffer et al. (1995)</a> reported 5 families from Australia, Britain, and Canada in which 47 members were affected with ADNFLE. The largest family contained 25 affected individuals spanning 6 generations. Onset was usually in childhood and the disorder persisted through adult life. The disorder was characterized by clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. Seizures occurred in clusters as patients dozed or shortly before awakening. Auras were often experienced, and patients were awake during the aura and seizures. Milder cases were often undiagnosed or misdiagnosed as nightmares or other sleep disorders, whereas more severely affected family members had frequent nocturnal seizures. All had normal psychomotor development and neurologic examination. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7895015+7906762" 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="Thomas, P., Picard, F., Hirsch, E., Chatel, M., Marescaux, C. <strong>Epilepsie frontale nocturne autosomique dominante.</strong> Rev. Neurol. 154: 228-235, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9773047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9773047</a>]" pmid="9773047">Thomas et al. (1998)</a> described one of the first European families with nocturnal frontal lobe epilepsy, including 5 affected individuals spanning 4 generations. In the most severely affected subject, NFLE had onset during the second month of life and persisted through adult life. Seizures were very frequent during infancy, although long-term evolution was relatively benign. Ictal video-EEG studies showed that attacks occurred in clusters during sleep and were partial seizures that were consistent with a frontal origin. Neuroimaging was normal. Carbamazepine was dramatically effective. <a href="#11" class="mim-tip-reference" title="Thomas, P., Picard, F., Hirsch, E., Chatel, M., Marescaux, C. <strong>Epilepsie frontale nocturne autosomique dominante.</strong> Rev. Neurol. 154: 228-235, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9773047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9773047</a>]" pmid="9773047">Thomas et al. (1998)</a> suggested that underestimation of cases is likely; the disorder in their family was perceived as a 'hereditary curse,' and consequently was concealed, including concealment from medical attention. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9773047" 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="Cho, Y.-W., Motamedi, G. K., Laufenberg, I., Sohn, S.-I., Lim, J.-G., Lee, H., Yi, S.-D., Lee, J.-H., Kim, D.-K., Reba, R., Gaillard, W. D., Theodore, W. H., Lesser, R. P., Steinlein, O. K. <strong>A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.</strong> Arch. Neurol. 60: 1625-1632, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14623738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14623738</a>] [<a href="https://doi.org/10.1001/archneur.60.11.1625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14623738">Cho et al. (2003)</a> reported a Korean family with ADNFLE in which 9 members from 3 generations were affected. The mean age at seizure onset was 11 years (range, 4 to 14 years). Seizure frequency ranged from 2 to 3 per year to 4 to 5 per night. All seizures arose from sleep, and no auras were reported. Episodes lasted about 20 to 40 seconds, and consisted of arm flexion, tonic head extension, mouth movements, and unintelligible speech. Ictal EEG and PET scans in some patients showed frontal lobe involvement. Unique features included mental retardation and poor response to carbamazepine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14623738" 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 PET scans, <a href="#2" class="mim-tip-reference" title="Fedi, M., Berkovic, S. F., Scheffer, I. E., O'Keefe, G., Marini, C., Mulligan, R., Gong, S., Tochon-Danguy, H., Reutens, D. C. <strong>Reduced striatal D(1) receptor binding in autosomal dominant nocturnal frontal lobe epilepsy.</strong> Neurology 71: 795-798, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18685138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18685138</a>] [<a href="https://doi.org/10.1212/01.wnl.0000316192.52731.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18685138">Fedi et al. (2008)</a> observed decreased striatal D1 receptor (DRD1; <a href="/entry/126449">126449</a>) binding, particularly in the right putamen, in 12 ADNFLE individuals with the same mutation in the CHRNA4 gene (<a href="/entry/118504#0002">118504.0002</a>) compared to controls. Decreased D1 receptor binding was postulated to represent receptor downregulation from increased extracellular levels of dopamine. Increased dopamine release may result from a gain-of-function in nAChRs with the mutant CHRNA4 subunit, since nAChRs regulate dopamine release. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18685138" 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 nocturnal frontal lobe epilepsy in the large Australian family reported by <a href="#8" class="mim-tip-reference" title="Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, E., Andermann, F., Desbiens, R., Keene, D., Cendes, F., Manson, J. I., Constantinou, J. E. C., McIntosh, A., Berkovic, S. F. <strong>Autosomal dominant nocturnal frontal epilepsy: a distinctive clinical disorder.</strong> Brain 118: 61-73, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7895015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7895015</a>] [<a href="https://doi.org/10.1093/brain/118.1.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7895015">Scheffer et al. (1995)</a> was consistent with autosomal dominant inheritance with incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7895015" 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 a large affected French Canadian family and 2 affected Australian Anglo-Saxon families, <a href="#5" class="mim-tip-reference" title="Lopes-Cendes, I., Phillips, H. A., Scheffer, I. E., Mulley, J. C., Desbiens, R., Andermann, E., Cendes, F., Verret, S., Andermann, F., Berkovic, S. F., Rouleau, G. A. <strong>Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus.</strong> Epilepsy Res. 22: 227-233, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8991790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8991790</a>] [<a href="https://doi.org/10.1016/0920-1211(95)00049-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8991790">Lopes-Cendes et al. (1995)</a> excluded linkage to regions on chromosome 3, 6, and 15 that are homologous to the El1 gene on mouse chromosome 9. The El epileptic mouse is an animal model for partial epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8991790" 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 ENFL Australian kindred with 27 affected individuals spanning 6 generations (Scheffer et al. (<a href="#9" class="mim-tip-reference" title="Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, F., Andermann, E., Desbiens, R., Cendes, F., Manson, J. I., Berkovic, S. F. <strong>Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder.</strong> Lancet 343: 515-517, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7906762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7906762</a>] [<a href="https://doi.org/10.1016/s0140-6736(94)91463-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7906762">1994</a>, <a href="#8" class="mim-tip-reference" title="Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, E., Andermann, F., Desbiens, R., Keene, D., Cendes, F., Manson, J. I., Constantinou, J. E. C., McIntosh, A., Berkovic, S. F. <strong>Autosomal dominant nocturnal frontal epilepsy: a distinctive clinical disorder.</strong> Brain 118: 61-73, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7895015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7895015</a>] [<a href="https://doi.org/10.1093/brain/118.1.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7895015">1995</a>)), <a href="#6" class="mim-tip-reference" title="Phillips, H. A., Scheffer, I. E., Berkovic, S. F., Hollway, G. E., Sutherland, G. R., Mulley, J. C. <strong>Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2.</strong> Nature Genet. 10: 117-118, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647781</a>] [<a href="https://doi.org/10.1038/ng0595-117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647781">Phillips et al. (1995)</a> mapped the disease locus to chromosome 20q13.2. The authors found maximum lod scores with no recombination with the same marker (D20S19) as in benign familial neonatal convulsions type 1 (<a href="/entry/121200">121200</a>) and a normal low-voltage variant of the EEG (<a href="/entry/130180">130180</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7895015+7647781+7906762" 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</em></strong></p><p>
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Genetic heterogeneity has been demonstrated by <a href="#7" class="mim-tip-reference" title="Phillips, H. A., Scheffer, I. E., Crossland, K. M., Bhatia, K. P., Fish, D. R., Marsden, C. D., Howell, S. J. L., Stephenson, J. B. P., Tolmie, J., Plazzi, G., Eeg-Olofsson, O., Singh, R., Lopes-Cendes, I., Andermann, E., Andermann, F., Berkovic, S. F., Mulley, J. C. <strong>Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.</strong> Am. J. Hum. Genet. 63: 1108-1116, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758605</a>] [<a href="https://doi.org/10.1086/302047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758605">Phillips et al. (1998)</a> in a family in which linkage to 20q13.2 was excluded and linkage to 15q24, close to the CHRNA3/CHRNA5/CHRNB4 cluster, was established. In yet other families, both 15q24 and 20q13.2 could be excluded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758605" 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 a large Australian kindred with ADNFLE reported by <a href="#8" class="mim-tip-reference" title="Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, E., Andermann, F., Desbiens, R., Keene, D., Cendes, F., Manson, J. I., Constantinou, J. E. C., McIntosh, A., Berkovic, S. F. <strong>Autosomal dominant nocturnal frontal epilepsy: a distinctive clinical disorder.</strong> Brain 118: 61-73, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7895015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7895015</a>] [<a href="https://doi.org/10.1093/brain/118.1.61" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7895015">Scheffer et al. (1995)</a> and <a href="#6" class="mim-tip-reference" title="Phillips, H. A., Scheffer, I. E., Berkovic, S. F., Hollway, G. E., Sutherland, G. R., Mulley, J. C. <strong>Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2.</strong> Nature Genet. 10: 117-118, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647781</a>] [<a href="https://doi.org/10.1038/ng0595-117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647781">Phillips et al. (1995)</a>, <a href="#10" class="mim-tip-reference" title="Steinlein, O. K., Mulley, J. C., Propping, P., Wallace, R. H., Phillips, H. A., Sutherland, G. R., Scheffer, I. E., Berkovic, S. F. <strong>A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.</strong> Nature Genet. 11: 201-203, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550350</a>] [<a href="https://doi.org/10.1038/ng1095-201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7550350">Steinlein et al. (1995)</a> identified a mutation in the CHRNA4 gene (<a href="/entry/118504#0002">118504.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7895015+7647781+7550350" 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 Japanese family with ADNFLE, <a href="#4" class="mim-tip-reference" title="Hirose, S., Iwata, H., Akiyoshi, H., Kobayashi, K., Ito, M., Wada, K., Kaneko, S., Mitsudome, A. <strong>A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.</strong> Neurology 53: 1749-1753, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10563623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10563623</a>] [<a href="https://doi.org/10.1212/wnl.53.8.1749" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10563623">Hirose et al. (1999)</a> identified a ser252-to-leu mutation in the CHRNA4 gene (S252L; <a href="/entry/118504#0004">118504.0004</a>). <a href="#1" class="mim-tip-reference" title="Cho, Y.-W., Motamedi, G. K., Laufenberg, I., Sohn, S.-I., Lim, J.-G., Lee, H., Yi, S.-D., Lee, J.-H., Kim, D.-K., Reba, R., Gaillard, W. D., Theodore, W. H., Lesser, R. P., Steinlein, O. K. <strong>A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.</strong> Arch. Neurol. 60: 1625-1632, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14623738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14623738</a>] [<a href="https://doi.org/10.1001/archneur.60.11.1625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14623738">Cho et al. (2003)</a> identified the S252L mutation in a Korean family with ADNFLE. They noted that the clinical phenotype in the Korean family was similar to that reported in the Japanese family; shared features included mental retardation and drug resistance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10563623+14623738" 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>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between autosomal dominant nocturnal frontal lobe epilepsy and variation in the CRH gene, see <a href="/entry/122560#0001">122560.0001</a>.</p>
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Cho, Y.-W., Motamedi, G. K., Laufenberg, I., Sohn, S.-I., Lim, J.-G., Lee, H., Yi, S.-D., Lee, J.-H., Kim, D.-K., Reba, R., Gaillard, W. D., Theodore, W. H., Lesser, R. P., Steinlein, O. K.
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<strong>A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.</strong>
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Arch. Neurol. 60: 1625-1632, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14623738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14623738</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14623738" 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.60.11.1625" target="_blank">Full Text</a>]
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Fedi, M., Berkovic, S. F., Scheffer, I. E., O'Keefe, G., Marini, C., Mulligan, R., Gong, S., Tochon-Danguy, H., Reutens, D. C.
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<strong>Reduced striatal D(1) receptor binding in autosomal dominant nocturnal frontal lobe epilepsy.</strong>
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Neurology 71: 795-798, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18685138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18685138</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18685138" 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.0000316192.52731.77" target="_blank">Full Text</a>]
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Hayman, M., Scheffer, I. E., Chinvarun, Y., Berlangieri, S. U., Berkovic, S. F.
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<strong>Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation.</strong>
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Neurology 49: 969-975, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9339675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9339675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9339675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hirose, S., Iwata, H., Akiyoshi, H., Kobayashi, K., Ito, M., Wada, K., Kaneko, S., Mitsudome, A.
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<strong>A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.</strong>
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Neurology 53: 1749-1753, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10563623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10563623</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10563623" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Lopes-Cendes, I., Phillips, H. A., Scheffer, I. E., Mulley, J. C., Desbiens, R., Andermann, E., Cendes, F., Verret, S., Andermann, F., Berkovic, S. F., Rouleau, G. A.
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<strong>Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus.</strong>
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Epilepsy Res. 22: 227-233, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8991790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8991790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8991790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Phillips, H. A., Scheffer, I. E., Berkovic, S. F., Hollway, G. E., Sutherland, G. R., Mulley, J. C.
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<strong>Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2.</strong>
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Nature Genet. 10: 117-118, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647781</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7647781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0595-117" target="_blank">Full Text</a>]
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Phillips, H. A., Scheffer, I. E., Crossland, K. M., Bhatia, K. P., Fish, D. R., Marsden, C. D., Howell, S. J. L., Stephenson, J. B. P., Tolmie, J., Plazzi, G., Eeg-Olofsson, O., Singh, R., Lopes-Cendes, I., Andermann, E., Andermann, F., Berkovic, S. F., Mulley, J. C.
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<strong>Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.</strong>
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Am. J. Hum. Genet. 63: 1108-1116, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758605</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758605" 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/10.1086/302047" target="_blank">Full Text</a>]
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Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, E., Andermann, F., Desbiens, R., Keene, D., Cendes, F., Manson, J. I., Constantinou, J. E. C., McIntosh, A., Berkovic, S. F.
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<strong>Autosomal dominant nocturnal frontal epilepsy: a distinctive clinical disorder.</strong>
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Brain 118: 61-73, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7895015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7895015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7895015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/118.1.61" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Scheffer1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, F., Andermann, E., Desbiens, R., Cendes, F., Manson, J. I., Berkovic, S. F.
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<strong>Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder.</strong>
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Lancet 343: 515-517, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7906762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7906762</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7906762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(94)91463-x" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Steinlein1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Steinlein, O. K., Mulley, J. C., Propping, P., Wallace, R. H., Phillips, H. A., Sutherland, G. R., Scheffer, I. E., Berkovic, S. F.
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<strong>A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.</strong>
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Nature Genet. 11: 201-203, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7550350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7550350</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7550350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1095-201" target="_blank">Full Text</a>]
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</p>
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<a id="11" class="mim-anchor"></a>
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<a id="Thomas1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thomas, P., Picard, F., Hirsch, E., Chatel, M., Marescaux, C.
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<strong>Epilepsie frontale nocturne autosomique dominante.</strong>
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Rev. Neurol. 154: 228-235, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9773047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9773047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9773047" 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="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 1/7/2013
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 4/6/2009<br>Cassandra L. Kniffin - updated : 2/6/2004<br>Victor A. McKusick - updated : 10/22/1998<br>Victor A. McKusick - updated : 10/8/1998<br>Orest Hurko - updated : 4/1/1996
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/4/1995
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 05/18/2017
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carol : 06/22/2015<br>ckniffin : 6/17/2015<br>carol : 6/17/2015<br>ckniffin : 6/16/2014<br>carol : 2/25/2014<br>carol : 1/8/2013<br>ckniffin : 1/7/2013<br>wwang : 4/13/2009<br>ckniffin : 4/6/2009<br>wwang : 8/28/2006<br>ckniffin : 8/24/2006<br>tkritzer : 2/17/2004<br>ckniffin : 2/6/2004<br>carol : 10/26/1998<br>terry : 10/22/1998<br>carol : 10/15/1998<br>terry : 10/8/1998<br>terry : 4/15/1996<br>mark : 4/1/1996<br>terry : 4/1/1996<br>terry : 3/26/1996<br>mimadm : 11/3/1995<br>mark : 10/10/1995<br>terry : 6/7/1995<br>terry : 6/3/1995<br>mark : 5/23/1995
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<span class="mim-font">
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<strong>#</strong> 600513
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EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1
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<strong>ORPHA:</strong> 98784;
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<strong>DO:</strong> 0060682;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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<th>
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Phenotype
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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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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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20q13.33
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<span class="mim-font">
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Epilepsy, nocturnal frontal lobe, 1
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<span class="mim-font">
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600513
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<span class="mim-font">
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Autosomal dominant
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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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3
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<td>
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<span class="mim-font">
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CHRNA4
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</span>
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</td>
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<span class="mim-font">
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118504
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that nocturnal frontal lobe epilepsy-1 (ENFL1) is caused by heterozygous mutation in the gene encoding the neuronal nicotinic acetylcholine receptor (nAChR) alpha-4 subunit (CHRNA4; 118504) on chromosome 20q13.</p>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Autosomal dominant nocturnal frontal lobe epilepsy (ENFL, ADNFLE) is a partial epilepsy with frontal lobe seizure semiology. It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, nightmares, hysteria, or paroxysmal nocturnal dystonia. The condition usually persists through adult life (Scheffer et al. (1994, 1995)). The disorder is clinically distinctive and relatively homogeneous, although seizure severity and specific frontal lobe seizure manifestations vary within families (Hayman et al., 1997). </p><p><strong><em>Genetic Heterogeneity of Nocturnal Frontal Lobe Epilepsy</em></strong></p><p>
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Nocturnal frontal lobe epilepsy is a genetically heterogeneous condition. See also ENFL2 (603204), which maps to chromosome 15q24; ENFL3 (605375), caused by mutation in the CHRNB2 gene (118507) on chromosome 1q21; ENFL4 (610353), caused by mutation in the CHRNA2 gene (118502) on chromosome 8p21; and ENFL5 (615005), caused by mutation in the KCNT1 gene (608167) on chromosome 9q34.</p><p>Nocturnal frontal lobe seizures are also observed in some patients with familial focal epilepsy with variable foci (FFEVF; 604364), caused by mutation in the DEPDC5 gene (614191) on chromosome 22q12.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Scheffer et al. (1994) and Scheffer et al. (1995) reported 5 families from Australia, Britain, and Canada in which 47 members were affected with ADNFLE. The largest family contained 25 affected individuals spanning 6 generations. Onset was usually in childhood and the disorder persisted through adult life. The disorder was characterized by clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. Seizures occurred in clusters as patients dozed or shortly before awakening. Auras were often experienced, and patients were awake during the aura and seizures. Milder cases were often undiagnosed or misdiagnosed as nightmares or other sleep disorders, whereas more severely affected family members had frequent nocturnal seizures. All had normal psychomotor development and neurologic examination. </p><p>Thomas et al. (1998) described one of the first European families with nocturnal frontal lobe epilepsy, including 5 affected individuals spanning 4 generations. In the most severely affected subject, NFLE had onset during the second month of life and persisted through adult life. Seizures were very frequent during infancy, although long-term evolution was relatively benign. Ictal video-EEG studies showed that attacks occurred in clusters during sleep and were partial seizures that were consistent with a frontal origin. Neuroimaging was normal. Carbamazepine was dramatically effective. Thomas et al. (1998) suggested that underestimation of cases is likely; the disorder in their family was perceived as a 'hereditary curse,' and consequently was concealed, including concealment from medical attention. </p><p>Cho et al. (2003) reported a Korean family with ADNFLE in which 9 members from 3 generations were affected. The mean age at seizure onset was 11 years (range, 4 to 14 years). Seizure frequency ranged from 2 to 3 per year to 4 to 5 per night. All seizures arose from sleep, and no auras were reported. Episodes lasted about 20 to 40 seconds, and consisted of arm flexion, tonic head extension, mouth movements, and unintelligible speech. Ictal EEG and PET scans in some patients showed frontal lobe involvement. Unique features included mental retardation and poor response to carbamazepine. </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>Other Features</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 PET scans, Fedi et al. (2008) observed decreased striatal D1 receptor (DRD1; 126449) binding, particularly in the right putamen, in 12 ADNFLE individuals with the same mutation in the CHRNA4 gene (118504.0002) compared to controls. Decreased D1 receptor binding was postulated to represent receptor downregulation from increased extracellular levels of dopamine. Increased dopamine release may result from a gain-of-function in nAChRs with the mutant CHRNA4 subunit, since nAChRs regulate dopamine release. </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>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 nocturnal frontal lobe epilepsy in the large Australian family reported by Scheffer et al. (1995) was consistent with autosomal dominant inheritance with incomplete penetrance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a large affected French Canadian family and 2 affected Australian Anglo-Saxon families, Lopes-Cendes et al. (1995) excluded linkage to regions on chromosome 3, 6, and 15 that are homologous to the El1 gene on mouse chromosome 9. The El epileptic mouse is an animal model for partial epilepsy. </p><p>In a large ENFL Australian kindred with 27 affected individuals spanning 6 generations (Scheffer et al. (1994, 1995)), Phillips et al. (1995) mapped the disease locus to chromosome 20q13.2. The authors found maximum lod scores with no recombination with the same marker (D20S19) as in benign familial neonatal convulsions type 1 (121200) and a normal low-voltage variant of the EEG (130180). </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
|
|
Genetic heterogeneity has been demonstrated by Phillips et al. (1998) in a family in which linkage to 20q13.2 was excluded and linkage to 15q24, close to the CHRNA3/CHRNA5/CHRNB4 cluster, was established. In yet other families, both 15q24 and 20q13.2 could be excluded. </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 a large Australian kindred with ADNFLE reported by Scheffer et al. (1995) and Phillips et al. (1995), Steinlein et al. (1995) identified a mutation in the CHRNA4 gene (118504.0002). </p><p>In a Japanese family with ADNFLE, Hirose et al. (1999) identified a ser252-to-leu mutation in the CHRNA4 gene (S252L; 118504.0004). Cho et al. (2003) identified the S252L mutation in a Korean family with ADNFLE. They noted that the clinical phenotype in the Korean family was similar to that reported in the Japanese family; shared features included mental retardation and drug resistance. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
For discussion of a possible association between autosomal dominant nocturnal frontal lobe epilepsy and variation in the CRH gene, see 122560.0001.</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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<span class="mim-font">
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<strong>REFERENCES</strong>
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Cho, Y.-W., Motamedi, G. K., Laufenberg, I., Sohn, S.-I., Lim, J.-G., Lee, H., Yi, S.-D., Lee, J.-H., Kim, D.-K., Reba, R., Gaillard, W. D., Theodore, W. H., Lesser, R. P., Steinlein, O. K.
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<strong>A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.</strong>
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Arch. Neurol. 60: 1625-1632, 2003.
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[PubMed: 14623738]
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[Full Text: https://doi.org/10.1001/archneur.60.11.1625]
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Fedi, M., Berkovic, S. F., Scheffer, I. E., O'Keefe, G., Marini, C., Mulligan, R., Gong, S., Tochon-Danguy, H., Reutens, D. C.
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<strong>Reduced striatal D(1) receptor binding in autosomal dominant nocturnal frontal lobe epilepsy.</strong>
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Neurology 71: 795-798, 2008.
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[PubMed: 18685138]
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[Full Text: https://doi.org/10.1212/01.wnl.0000316192.52731.77]
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Hayman, M., Scheffer, I. E., Chinvarun, Y., Berlangieri, S. U., Berkovic, S. F.
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<strong>Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation.</strong>
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Neurology 49: 969-975, 1997.
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[PubMed: 9339675]
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[Full Text: https://doi.org/10.1212/wnl.49.4.969]
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Hirose, S., Iwata, H., Akiyoshi, H., Kobayashi, K., Ito, M., Wada, K., Kaneko, S., Mitsudome, A.
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<strong>A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.</strong>
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Neurology 53: 1749-1753, 1999.
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[PubMed: 10563623]
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[Full Text: https://doi.org/10.1212/wnl.53.8.1749]
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<p class="mim-text-font">
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Lopes-Cendes, I., Phillips, H. A., Scheffer, I. E., Mulley, J. C., Desbiens, R., Andermann, E., Cendes, F., Verret, S., Andermann, F., Berkovic, S. F., Rouleau, G. A.
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<strong>Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus.</strong>
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Epilepsy Res. 22: 227-233, 1995.
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[PubMed: 8991790]
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[Full Text: https://doi.org/10.1016/0920-1211(95)00049-6]
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Phillips, H. A., Scheffer, I. E., Berkovic, S. F., Hollway, G. E., Sutherland, G. R., Mulley, J. C.
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<strong>Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2.</strong>
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Nature Genet. 10: 117-118, 1995.
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[PubMed: 7647781]
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[Full Text: https://doi.org/10.1038/ng0595-117]
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Phillips, H. A., Scheffer, I. E., Crossland, K. M., Bhatia, K. P., Fish, D. R., Marsden, C. D., Howell, S. J. L., Stephenson, J. B. P., Tolmie, J., Plazzi, G., Eeg-Olofsson, O., Singh, R., Lopes-Cendes, I., Andermann, E., Andermann, F., Berkovic, S. F., Mulley, J. C.
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<strong>Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.</strong>
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Am. J. Hum. Genet. 63: 1108-1116, 1998.
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[PubMed: 9758605]
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[Full Text: https://doi.org/10.1086/302047]
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Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, E., Andermann, F., Desbiens, R., Keene, D., Cendes, F., Manson, J. I., Constantinou, J. E. C., McIntosh, A., Berkovic, S. F.
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<strong>Autosomal dominant nocturnal frontal epilepsy: a distinctive clinical disorder.</strong>
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Brain 118: 61-73, 1995.
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[PubMed: 7895015]
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[Full Text: https://doi.org/10.1093/brain/118.1.61]
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Scheffer, I. E., Bhatia, K. P., Lopes-Cendes, I., Fish, D. R., Marsden, C. D., Andermann, F., Andermann, E., Desbiens, R., Cendes, F., Manson, J. I., Berkovic, S. F.
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<strong>Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder.</strong>
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Lancet 343: 515-517, 1994.
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[PubMed: 7906762]
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[Full Text: https://doi.org/10.1016/s0140-6736(94)91463-x]
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Steinlein, O. K., Mulley, J. C., Propping, P., Wallace, R. H., Phillips, H. A., Sutherland, G. R., Scheffer, I. E., Berkovic, S. F.
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<strong>A missense mutation in the neuronal nicotinic acetylcholine receptor alpha-4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.</strong>
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Nature Genet. 11: 201-203, 1995.
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[PubMed: 7550350]
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[Full Text: https://doi.org/10.1038/ng1095-201]
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</p>
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<p class="mim-text-font">
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Thomas, P., Picard, F., Hirsch, E., Chatel, M., Marescaux, C.
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<strong>Epilepsie frontale nocturne autosomique dominante.</strong>
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Rev. Neurol. 154: 228-235, 1998.
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[PubMed: 9773047]
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Cassandra L. Kniffin - updated : 1/7/2013<br>Cassandra L. Kniffin - updated : 4/6/2009<br>Cassandra L. Kniffin - updated : 2/6/2004<br>Victor A. McKusick - updated : 10/22/1998<br>Victor A. McKusick - updated : 10/8/1998<br>Orest Hurko - updated : 4/1/1996
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<span class="mim-text-font">
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Victor A. McKusick : 5/4/1995
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carol : 05/18/2017<br>carol : 06/22/2015<br>ckniffin : 6/17/2015<br>carol : 6/17/2015<br>ckniffin : 6/16/2014<br>carol : 2/25/2014<br>carol : 1/8/2013<br>ckniffin : 1/7/2013<br>wwang : 4/13/2009<br>ckniffin : 4/6/2009<br>wwang : 8/28/2006<br>ckniffin : 8/24/2006<br>tkritzer : 2/17/2004<br>ckniffin : 2/6/2004<br>carol : 10/26/1998<br>terry : 10/22/1998<br>carol : 10/15/1998<br>terry : 10/8/1998<br>terry : 4/15/1996<br>mark : 4/1/1996<br>terry : 4/1/1996<br>terry : 3/26/1996<br>mimadm : 11/3/1995<br>mark : 10/10/1995<br>terry : 6/7/1995<br>terry : 6/3/1995<br>mark : 5/23/1995
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