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Entry
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- #605375 - EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3
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- OMIM
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<p>
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<span class="h4">#605375</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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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="/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="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=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/8332" 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=605375[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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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060684" 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/605375" 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://wormbase.org/resources/disease/DOID:0060684" 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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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 98784<br />
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<strong>DO:</strong> 0060684<br />
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">ICD+</a>
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</div>
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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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605375
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/1/1193?start=-3&limit=10&highlight=1193">
|
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1q21.3
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Epilepsy, nocturnal frontal lobe, 3
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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/605375"> 605375 </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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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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CHRNB2
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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/118507"> 118507 </a>
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</span>
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</td>
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</tbody>
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</table>
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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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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/605375" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/605375" 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 class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Epilepsy, nocturnal frontal lobe
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- <a href="/phenotypicSeries/PS600513">PS600513</a>
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- 5 Entries
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</h5>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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<tbody>
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<span class="mim-font">
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<a href="/geneMap/1/1193?start=-3&limit=10&highlight=1193"> 1q21.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605375"> Epilepsy, nocturnal frontal lobe, 3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605375"> 605375 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/118507"> CHRNB2 </a>
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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/118507"> 118507 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/8/151?start=-3&limit=10&highlight=151"> 8p21.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610353"> Epilepsy, nocturnal frontal lobe, type 4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610353"> 610353 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/118502"> CHRNA2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/118502"> 118502 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/9/642?start=-3&limit=10&highlight=642"> 9q34.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615005"> Epilepsy nocturnal frontal lobe, 5 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/615005"> 615005 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/608167"> KCNT1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/608167"> 608167 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/15/355?start=-3&limit=10&highlight=355"> 15q24 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603204"> Epilepsy, nocturnal frontal lobe, type 2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603204"> 603204 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603204"> ENFL2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603204"> 603204 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/20/470?start=-3&limit=10&highlight=470"> 20q13.33 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/600513"> Epilepsy, nocturnal frontal lobe, 1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/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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<a href="/entry/118504"> CHRNA4 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/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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</table>
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that nocturnal frontal lobe epilepsy-3 (ENFL3) is caused by heterozygous mutation in the gene encoding the beta-2 nicotinic acetylcholine receptor (nAChR) subunit (CHRNB2; <a href="/entry/118507">118507</a>) on chromosome 1q21.</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Clustered attacks of epileptic episodes originating from the frontal lobe during sleep represent the main manifestation of autosomal dominant frontal lobe epilepsy (ENFL, ADNFLE) (summary by <a href="#1" class="mim-tip-reference" title="De Fusco, M., Becchetti, A., Patrignani, A., Annesi, G., Gambardella, A., Quattrone, A., Ballabio, A., Wanke, E., Casari, G. <strong>The nicotinic receptor beta-2 subunit is mutant in nocturnal frontal lobe epilepsy.</strong> Nature Genet. 26: 275-276, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062464</a>] [<a href="https://doi.org/10.1038/81566" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062464">De Fusco et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description of autosomal dominant nocturnal frontal lobe epilepsy, see <a href="/entry/600513">600513</a>.</p>
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<br />
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<strong>Clinical Features</strong>
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<p><a href="#2" class="mim-tip-reference" title="Gambardella, A., Annesi, G., De Fusco, M., Patrignani, A., Aguglia, U., Annesi, F., Pasqua, A. A., Spadafora, P., Oliveri, R. L., Valentino, P., Zappia, M., Ballabio, A., Casari, G., Quattrone, A. <strong>A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.</strong> Neurology 55: 1467-1471, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11094099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11094099</a>] [<a href="https://doi.org/10.1212/wnl.55.10.1467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11094099">Gambardella et al. (2000)</a> reported a large 3-generation Italian family segregating autosomal dominant nocturnal frontal lobe epilepsy. The age at onset of seizures was around 9 years of age and all affected individuals manifested nocturnal partial seizures of frontal lobe origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11094099" 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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<strong>Mapping</strong>
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<p>In a large Italian family segregating ADNFLE, <a href="#2" class="mim-tip-reference" title="Gambardella, A., Annesi, G., De Fusco, M., Patrignani, A., Aguglia, U., Annesi, F., Pasqua, A. A., Spadafora, P., Oliveri, R. L., Valentino, P., Zappia, M., Ballabio, A., Casari, G., Quattrone, A. <strong>A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.</strong> Neurology 55: 1467-1471, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11094099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11094099</a>] [<a href="https://doi.org/10.1212/wnl.55.10.1467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11094099">Gambardella et al. (2000)</a> excluded linkage to known loci on chromosome 20 (<a href="/entry/600513">600513</a>) and chromosome 15 (<a href="/entry/603204">603204</a>) and established linkage to chromosome 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11094099" 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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<strong>Inheritance</strong>
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<p>The transmission pattern of ADNFLE in the family reported by <a href="#2" class="mim-tip-reference" title="Gambardella, A., Annesi, G., De Fusco, M., Patrignani, A., Aguglia, U., Annesi, F., Pasqua, A. A., Spadafora, P., Oliveri, R. L., Valentino, P., Zappia, M., Ballabio, A., Casari, G., Quattrone, A. <strong>A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.</strong> Neurology 55: 1467-1471, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11094099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11094099</a>] [<a href="https://doi.org/10.1212/wnl.55.10.1467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11094099">Gambardella et al. (2000)</a> and <a href="#1" class="mim-tip-reference" title="De Fusco, M., Becchetti, A., Patrignani, A., Annesi, G., Gambardella, A., Quattrone, A., Ballabio, A., Wanke, E., Casari, G. <strong>The nicotinic receptor beta-2 subunit is mutant in nocturnal frontal lobe epilepsy.</strong> Nature Genet. 26: 275-276, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062464</a>] [<a href="https://doi.org/10.1038/81566" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062464">De Fusco et al. (2000)</a> was consistent with autosomal dominant inheritance with incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11094099+11062464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of the Italian family with ADNFLE reported by <a href="#2" class="mim-tip-reference" title="Gambardella, A., Annesi, G., De Fusco, M., Patrignani, A., Aguglia, U., Annesi, F., Pasqua, A. A., Spadafora, P., Oliveri, R. L., Valentino, P., Zappia, M., Ballabio, A., Casari, G., Quattrone, A. <strong>A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.</strong> Neurology 55: 1467-1471, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11094099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11094099</a>] [<a href="https://doi.org/10.1212/wnl.55.10.1467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11094099">Gambardella et al. (2000)</a>, <a href="#1" class="mim-tip-reference" title="De Fusco, M., Becchetti, A., Patrignani, A., Annesi, G., Gambardella, A., Quattrone, A., Ballabio, A., Wanke, E., Casari, G. <strong>The nicotinic receptor beta-2 subunit is mutant in nocturnal frontal lobe epilepsy.</strong> Nature Genet. 26: 275-276, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062464</a>] [<a href="https://doi.org/10.1038/81566" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062464">De Fusco et al. (2000)</a> identified a heterozygous mutation in the CHRNB2 gene (V287L; <a href="/entry/118507#0001">118507.0001</a>). Eight members were affected and 5 were asymptomatic, suggesting incomplete penetrance of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11094099+11062464" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a Scottish family with ADNFL3, <a href="#4" class="mim-tip-reference" title="Phillips, H. A., Favre, I., Kirkpatrick, M., Zuberi, S. M., Goudie, D., Heron, S. E., Scheffer, I. E., Sutherland, G. R., Berkovic, S. F., Bertrand, D., Mulley, J. C. <strong>CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.</strong> Am. J. Hum. Genet. 68: 225-231, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11104662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11104662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11104662[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/316946" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11104662">Phillips et al. (2001)</a> identified a different heterozygous mutation at the same codon in the CHRNB2 gene (V287M; <a href="/entry/118507#0002">118507.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11104662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Manfredi, I., Zani, A. D., Rampoldi, L., Pegorini, S., Bernascone, I., Moretti, M., Gotti, C., Croci, L., Consalez, G. G., Ferini-Strambi, L., Sala, M., Pattini, L., Casari, G. <strong>Expression of mutant beta-2 nicotinic receptors during development is crucial for epileptogenesis.</strong> Hum. Molec. Genet. 18: 1075-1088, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19153075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19153075</a>] [<a href="https://doi.org/10.1093/hmg/ddp004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19153075">Manfredi et al. (2009)</a> developed and characterized a mouse model of ENFL3 carrying the V287L mutation (<a href="/entry/118507#0001">118507.0001</a>) of the CHRNB2 gene. Mice expressing mutant receptors showed a spontaneous epileptic phenotype by electroencephalography with very frequent interictal spikes and seizures. Expression of the mutant protein was driven by a neuronal-specific tetracycline-controlled promoter, which allowed reversible planned silencing of transgene expression. Restricted silencing during development was sufficient to prevent the occurrence of epileptic seizures in adulthood. <a href="#3" class="mim-tip-reference" title="Manfredi, I., Zani, A. D., Rampoldi, L., Pegorini, S., Bernascone, I., Moretti, M., Gotti, C., Croci, L., Consalez, G. G., Ferini-Strambi, L., Sala, M., Pattini, L., Casari, G. <strong>Expression of mutant beta-2 nicotinic receptors during development is crucial for epileptogenesis.</strong> Hum. Molec. Genet. 18: 1075-1088, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19153075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19153075</a>] [<a href="https://doi.org/10.1093/hmg/ddp004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19153075">Manfredi et al. (2009)</a> hypothesized that mutant nicotinic receptors are responsible for abnormal formation of neuronal circuits and/or long-lasting alteration of network assembly in the developing brain, thus leading to epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19153075" 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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De Fusco, M., Becchetti, A., Patrignani, A., Annesi, G., Gambardella, A., Quattrone, A., Ballabio, A., Wanke, E., Casari, G.
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<strong>The nicotinic receptor beta-2 subunit is mutant in nocturnal frontal lobe epilepsy.</strong>
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Nature Genet. 26: 275-276, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062464</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11062464" 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/10.1038/81566" target="_blank">Full Text</a>]
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Gambardella, A., Annesi, G., De Fusco, M., Patrignani, A., Aguglia, U., Annesi, F., Pasqua, A. A., Spadafora, P., Oliveri, R. L., Valentino, P., Zappia, M., Ballabio, A., Casari, G., Quattrone, A.
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<strong>A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.</strong>
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Neurology 55: 1467-1471, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11094099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11094099</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11094099" 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/wnl.55.10.1467" target="_blank">Full Text</a>]
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Manfredi, I., Zani, A. D., Rampoldi, L., Pegorini, S., Bernascone, I., Moretti, M., Gotti, C., Croci, L., Consalez, G. G., Ferini-Strambi, L., Sala, M., Pattini, L., Casari, G.
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<strong>Expression of mutant beta-2 nicotinic receptors during development is crucial for epileptogenesis.</strong>
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Hum. Molec. Genet. 18: 1075-1088, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19153075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19153075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19153075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddp004" target="_blank">Full Text</a>]
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Phillips, H. A., Favre, I., Kirkpatrick, M., Zuberi, S. M., Goudie, D., Heron, S. E., Scheffer, I. E., Sutherland, G. R., Berkovic, S. F., Bertrand, D., Mulley, J. C.
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<strong>CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.</strong>
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Am. J. Hum. Genet. 68: 225-231, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11104662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11104662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11104662[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11104662" 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/10.1086/316946" target="_blank">Full Text</a>]
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George E. Tiller - updated : 10/26/2009
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Victor A. McKusick : 10/31/2000
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carol : 01/08/2024<br>carol : 11/16/2016<br>carol : 01/08/2013<br>carol : 3/23/2012<br>carol : 3/21/2012<br>carol : 3/21/2012<br>wwang : 11/10/2009<br>terry : 10/26/2009<br>carol : 6/4/2002<br>alopez : 11/1/2000<br>alopez : 10/31/2000
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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1q21.3
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<span class="mim-font">
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Epilepsy, nocturnal frontal lobe, 3
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</td>
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<td>
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<span class="mim-font">
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605375
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<span class="mim-font">
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<span class="mim-font">
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3
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<span class="mim-font">
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CHRNB2
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<span class="mim-font">
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118507
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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-3 (ENFL3) is caused by heterozygous mutation in the gene encoding the beta-2 nicotinic acetylcholine receptor (nAChR) subunit (CHRNB2; 118507) on chromosome 1q21.</p>
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>Clustered attacks of epileptic episodes originating from the frontal lobe during sleep represent the main manifestation of autosomal dominant frontal lobe epilepsy (ENFL, ADNFLE) (summary by De Fusco et al., 2000). </p><p>For a general phenotypic description of autosomal dominant nocturnal frontal lobe epilepsy, see 600513.</p>
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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>
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<span class="mim-text-font">
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<p>Gambardella et al. (2000) reported a large 3-generation Italian family segregating autosomal dominant nocturnal frontal lobe epilepsy. The age at onset of seizures was around 9 years of age and all affected individuals manifested nocturnal partial seizures of frontal lobe origin. </p>
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</span>
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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 Italian family segregating ADNFLE, Gambardella et al. (2000) excluded linkage to known loci on chromosome 20 (600513) and chromosome 15 (603204) and established linkage to chromosome 1. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of ADNFLE in the family reported by Gambardella et al. (2000) and De Fusco et al. (2000) 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>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of the Italian family with ADNFLE reported by Gambardella et al. (2000), De Fusco et al. (2000) identified a heterozygous mutation in the CHRNB2 gene (V287L; 118507.0001). Eight members were affected and 5 were asymptomatic, suggesting incomplete penetrance of the disorder. </p><p>In affected members of a Scottish family with ADNFL3, Phillips et al. (2001) identified a different heterozygous mutation at the same codon in the CHRNB2 gene (V287M; 118507.0002). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</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>Manfredi et al. (2009) developed and characterized a mouse model of ENFL3 carrying the V287L mutation (118507.0001) of the CHRNB2 gene. Mice expressing mutant receptors showed a spontaneous epileptic phenotype by electroencephalography with very frequent interictal spikes and seizures. Expression of the mutant protein was driven by a neuronal-specific tetracycline-controlled promoter, which allowed reversible planned silencing of transgene expression. Restricted silencing during development was sufficient to prevent the occurrence of epileptic seizures in adulthood. Manfredi et al. (2009) hypothesized that mutant nicotinic receptors are responsible for abnormal formation of neuronal circuits and/or long-lasting alteration of network assembly in the developing brain, thus leading to epilepsy. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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De Fusco, M., Becchetti, A., Patrignani, A., Annesi, G., Gambardella, A., Quattrone, A., Ballabio, A., Wanke, E., Casari, G.
|
|
<strong>The nicotinic receptor beta-2 subunit is mutant in nocturnal frontal lobe epilepsy.</strong>
|
|
Nature Genet. 26: 275-276, 2000.
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[PubMed: 11062464]
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[Full Text: https://doi.org/10.1038/81566]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Gambardella, A., Annesi, G., De Fusco, M., Patrignani, A., Aguglia, U., Annesi, F., Pasqua, A. A., Spadafora, P., Oliveri, R. L., Valentino, P., Zappia, M., Ballabio, A., Casari, G., Quattrone, A.
|
|
<strong>A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.</strong>
|
|
Neurology 55: 1467-1471, 2000.
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[PubMed: 11094099]
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[Full Text: https://doi.org/10.1212/wnl.55.10.1467]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Manfredi, I., Zani, A. D., Rampoldi, L., Pegorini, S., Bernascone, I., Moretti, M., Gotti, C., Croci, L., Consalez, G. G., Ferini-Strambi, L., Sala, M., Pattini, L., Casari, G.
|
|
<strong>Expression of mutant beta-2 nicotinic receptors during development is crucial for epileptogenesis.</strong>
|
|
Hum. Molec. Genet. 18: 1075-1088, 2009.
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[PubMed: 19153075]
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[Full Text: https://doi.org/10.1093/hmg/ddp004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Phillips, H. A., Favre, I., Kirkpatrick, M., Zuberi, S. M., Goudie, D., Heron, S. E., Scheffer, I. E., Sutherland, G. R., Berkovic, S. F., Bertrand, D., Mulley, J. C.
|
|
<strong>CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.</strong>
|
|
Am. J. Hum. Genet. 68: 225-231, 2001.
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|
|
[PubMed: 11104662]
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|
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[Full Text: https://doi.org/10.1086/316946]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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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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George E. Tiller - updated : 10/26/2009<br>Cassandra L. Kniffin - updated : 6/4/2002
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</span>
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</div>
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</div>
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<span class="text-nowrap mim-text-font">
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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 : 10/31/2000
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Edit History:
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carol : 01/09/2024<br>carol : 01/08/2024<br>carol : 11/16/2016<br>carol : 01/08/2013<br>carol : 3/23/2012<br>carol : 3/21/2012<br>carol : 3/21/2012<br>wwang : 11/10/2009<br>terry : 10/26/2009<br>carol : 6/4/2002<br>alopez : 11/1/2000<br>alopez : 10/31/2000
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