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- #600512 - EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
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- OMIM
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<p>
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<span class="h4">#600512</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/600512"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS600512"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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 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 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, FAMILIAL TEMPORAL 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=14757&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/NBK1537/" 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/688" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600512[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=101046" 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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</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:0060748" 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/600512" 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 id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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<div id="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:600512" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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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<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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<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>SNOMEDCT:</strong> 784377008<br />
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<strong>ORPHA:</strong> 101046<br />
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<strong>DO:</strong> 0060748<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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600512
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE<br />
|
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EPILEPSY, PARTIAL, WITH AUDITORY FEATURES; ADPEAF
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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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>
|
|
Gene/Locus
|
|
</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/411?start=-3&limit=10&highlight=411">
|
|
10q23.33
|
|
</a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Epilepsy, familial temporal lobe, 1
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/600512"> 600512 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
LGI1
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604619"> 604619 </a>
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/600512" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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')">
|
|
<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
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</div>
|
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|
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<div class="btn-group">
|
|
|
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<a href="/phenotypicSeries/PS600512" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
|
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|
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600512" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600512" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Temporal lobe epilepsy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1287669005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1287669005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193000002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193000002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014556&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014556</a>]</span><br /> -
|
|
Simple partial seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/117891000119100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">117891000119100</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234974&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234974</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002349" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002349</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002349" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002349</a>]</span><br /> -
|
|
Complex partial seizures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002384</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002384</a>]</span><br /> -
|
|
Secondary generalized tonic clonic seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246544003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246544003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0877017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0877017</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007334</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007334</a>]</span><br /> -
|
|
Auditory auras <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61927004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61927004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838063</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011158" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011158</a>]</span><br /> -
|
|
Ictal auditory features commonly include simple unformed sounds (buzzing, ringing, clicking, humming), but may also include complex auditory features (voices, music), distorted auditory features (volume changes, muffling), cognitive auditory features (receptive aphasia), reflex auditory features (seizures precipitated by sounds) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838064&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838064</a>]</span><br /> -
|
|
Other auras may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838065</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
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|
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|
|
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|
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|
|
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|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Age at onset from 3 to 51 years (mean 19.2 years)<br /> -
|
|
Reduced penetrance (approximately 54%) <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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the glioma-inactivated leucine-rich 1 gene (LGI1, <a href="/entry/604619#0001">604619.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Epilepsy, familial temporal lobe
|
|
- <a href="/phenotypicSeries/PS600512">PS600512</a>
|
|
- 8 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/3/770?start=-3&limit=10&highlight=770"> 3q25-q26 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615697"> Epilepsy, familial temporal lobe, 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615697"> 615697 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615697"> ETL6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615697"> 615697 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/251?start=-3&limit=10&highlight=251"> 4q13.2-q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611630"> Epilepsy, familial temporal lobe, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611630"> 611630 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611630"> ETL3 </a>
|
|
</span>
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<a href="/entry/616436"> {Epilepsy, familial temporal lobe, 7} </a>
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<a href="/entry/611631"> Epilepsy, familial temporal lobe, 4 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<a href="/entry/611631"> 611631 </a>
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<a href="/entry/600512"> Epilepsy, familial temporal lobe, 1 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/604619"> LGI1 </a>
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<a href="/entry/604619"> 604619 </a>
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<a href="/geneMap/11/685?start=-3&limit=10&highlight=685"> 11q13.2 </a>
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<span class="mim-font">
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<a href="/entry/616461"> ?Epilepsy, familial temporal lobe, 8 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<a href="/entry/137035"> 137035 </a>
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<a href="/geneMap/12/679?start=-3&limit=10&highlight=679"> 12q22-q23.3 </a>
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<span class="mim-font">
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<a href="/entry/608096"> Epilepsy, familial temporal lobe, 2 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/608096"> 608096 </a>
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<a href="/entry/608096"> ETL2 </a>
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<span class="mim-font">
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<a href="/entry/608096"> 608096 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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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-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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<p>A number sign (#) is used with this entry because autosomal dominant familial temporal lobe epilepsy-1 (ETL1) is caused by heterozygous mutation in the LGI1 gene (<a href="/entry/604619">604619</a>) on chromosome 10q24.</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Autosomal dominant lateral temporal lobe epilepsy is a specific form of temporal lobe epilepsy characterized by partial seizures originating from the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature (summary by <a href="#14" class="mim-tip-reference" title="Winawer, M. R., Ottman, R., Hauser, W. A., Pedley, T. A. <strong>Autosomal dominant partial epilepsy with auditory features: defining the phenotype.</strong> Neurology 54: 2173-2176, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10851389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10851389</a>] [<a href="https://doi.org/10.1212/wnl.54.11.2173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10851389">Winawer et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10851389" 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 Temporal Lobe Epilepsy</em></strong></p><p>
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See also ETL2 (<a href="/entry/608096">608096</a>), which maps to chromosome 12q; ETL3 (<a href="/entry/611630">611630</a>), which maps to chromosome 4q; ETL4 (<a href="/entry/611631">611631</a>), which maps to chromosome 9q; ETL5 (<a href="/entry/614417">614417</a>), caused by mutation in the CPA6 gene (<a href="/entry/609562">609562</a>) on chromosome 8q13; ETL6 (<a href="/entry/615697">615697</a>), which maps to chromosome 3q25-q26; ETL7 (<a href="/entry/616436">616436</a>), caused by mutation in the RELN gene (<a href="/entry/600514">600514</a>) on chromosome 7q22; and ETL8 (<a href="/entry/616461">616461</a>), caused by mutation in the GAL gene (<a href="/entry/137035">137035</a>) on chromosome 11q13.</p>
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<strong>Clinical Features</strong>
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<p>Most partial or focal epilepsies in which seizures begin in a specific brain region are assumed to be nongenetic. However, relatives of probands with partial epilepsy have an increased risk of epilepsy compared with the general population, suggesting a genetic influence on at least some partial epilepsies (<a href="#9" class="mim-tip-reference" title="Ottman, R., Risch, N., Hauser, W. A., Pedley, T. A., Lee, J. H., Barker-Cummings, C., Lustenberger, A., Nagle, K. J., Lee, K. S., Scheuer, M. L., Neystat, M., Susser, M., Wilhelmsen, K. C. <strong>Localization of a gene for partial epilepsy to chromosome 10q.</strong> Nature Genet. 10: 56-60, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647791</a>] [<a href="https://doi.org/10.1038/ng0595-56" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647791">Ottman et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7647791" 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="#9" class="mim-tip-reference" title="Ottman, R., Risch, N., Hauser, W. A., Pedley, T. A., Lee, J. H., Barker-Cummings, C., Lustenberger, A., Nagle, K. J., Lee, K. S., Scheuer, M. L., Neystat, M., Susser, M., Wilhelmsen, K. C. <strong>Localization of a gene for partial epilepsy to chromosome 10q.</strong> Nature Genet. 10: 56-60, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647791</a>] [<a href="https://doi.org/10.1038/ng0595-56" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647791">Ottman et al. (1995)</a> studied a family in which 11 individuals in 3 generations had partial epilepsy classified as idiopathic/cryptogenic. Epilepsy was clearly localization-related in all but 1 of the individuals; the remaining person had only nocturnal seizures and thus could not be classified. In 6 of those with idiopathic/cryptogenic epilepsy and in 1 with remote symptomatic epilepsy, nonspecific auditory disturbances (such as a ringing noise that grew louder or a humming like a machine) were reported as a simple partial component of their seizures. None of the interictal EEGs showed an epileptiform abnormality. The age at onset of epilepsy ranged from 8 to 19 years. All family members had normal intelligence. Seizures occurred infrequently; 7 of the 11 had been free of seizures for 3 years or more before interview. Phenytoin was the primary antiseizure medication prescribed in 10 of the 11 subjects; the remaining subject received carbamazapine. <a href="#9" class="mim-tip-reference" title="Ottman, R., Risch, N., Hauser, W. A., Pedley, T. A., Lee, J. H., Barker-Cummings, C., Lustenberger, A., Nagle, K. J., Lee, K. S., Scheuer, M. L., Neystat, M., Susser, M., Wilhelmsen, K. C. <strong>Localization of a gene for partial epilepsy to chromosome 10q.</strong> Nature Genet. 10: 56-60, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647791</a>] [<a href="https://doi.org/10.1038/ng0595-56" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647791">Ottman et al. (1995)</a> noted that the auditory features suggested a neocortical (or lateral) temporal lobe origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7647791" 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="#14" class="mim-tip-reference" title="Winawer, M. R., Ottman, R., Hauser, W. A., Pedley, T. A. <strong>Autosomal dominant partial epilepsy with auditory features: defining the phenotype.</strong> Neurology 54: 2173-2176, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10851389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10851389</a>] [<a href="https://doi.org/10.1212/wnl.54.11.2173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10851389">Winawer et al. (2000)</a> described the family reported by <a href="#9" class="mim-tip-reference" title="Ottman, R., Risch, N., Hauser, W. A., Pedley, T. A., Lee, J. H., Barker-Cummings, C., Lustenberger, A., Nagle, K. J., Lee, K. S., Scheuer, M. L., Neystat, M., Susser, M., Wilhelmsen, K. C. <strong>Localization of a gene for partial epilepsy to chromosome 10q.</strong> Nature Genet. 10: 56-60, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647791</a>] [<a href="https://doi.org/10.1038/ng0595-56" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647791">Ottman et al. (1995)</a> in further detail. Partial seizures were characterized most frequently by sensory symptoms (73% of subjects), including a high frequency of auditory symptoms (55% of subjects), followed in frequency by cephalic, visual, olfactory, and vertiginous symptoms. Somatosensory auras were not reported. Autonomic symptoms (visceral/epigastric and cardiac palpitations) occurred in 45% of patients. Occasional psychic/emotional symptoms were reported (e.g., fear, deja vu, panic, depersonalization). The auditory symptoms ranged from unformed sounds, such as humming and ringing, to distortions and volume changes. Some reported formed sounds, singing and voices, and one subject's description suggested seizures provoked by auditory stimuli. <a href="#14" class="mim-tip-reference" title="Winawer, M. R., Ottman, R., Hauser, W. A., Pedley, T. A. <strong>Autosomal dominant partial epilepsy with auditory features: defining the phenotype.</strong> Neurology 54: 2173-2176, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10851389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10851389</a>] [<a href="https://doi.org/10.1212/wnl.54.11.2173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10851389">Winawer et al. (2000)</a> emphasized that the features suggested a lateral temporal lobe onset zone. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10851389+7647791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Brodtkorb, E., Gu, W., Nakken, K. O., Fischer, C., Steinlein, O. K. <strong>Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24.</strong> Epilepsia 43: 228, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11906506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11906506</a>] [<a href="https://doi.org/10.1046/j.1528-1157.2002.32001.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11906506">Brodtkorb et al. (2002)</a> reported a large Norwegian family in which 20 members over 5 generations had seizures in an autosomal dominant pattern. Twelve affected members were studied: mean age of onset was 18 years (range 4-42); 11 had simple partial seizures, 8 of which were characterized by aphasic features, and many experienced auditory hallucinations; all had secondary generalized tonic-clonic seizures that improved with age. EEG recordings in 4 patients showed temporal lobe activity and the symptoms suggested localization to the lateral neocortical temporal lobe. Two patients died unexpectedly in their twenties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11906506" 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 3 of 10 families with autosomal dominant partial epilepsy with auditory features, <a href="#11" class="mim-tip-reference" title="Ottman, R., Winawer, M. R., Kalachikov, S., Barker-Cummings, C., Gilliam, T. C., Pedley, T. A., Hauser, W. A. <strong>LGI1 mutations in autosomal dominant partial epilepsy with auditory features.</strong> Neurology 62: 1120-1126, 2004. Note: Erratum: Neurology 62: 2146 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15079011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15079011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15079011[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/10.1212/01.wnl.0000120098.39231.6e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15079011">Ottman et al. (2004)</a> identified different mutations in the LGI1 gene that cosegregated with the disease phenotype. Including data from an earlier report (<a href="#6" class="mim-tip-reference" title="Kalachikov, S., Evgrafov, O., Ross, B., Winawer, M., Barker-Cummings, C., Boneschi, F. M., Choi, C., Morozov, P., Das, K., Teplitskaya, E., Yu, A., Cayanis, E., Penchaszadeh, G., Kottmann, A. H., Pedley, T. A., Hauser, W. A., Ottman, R., Gilliam, T. C. <strong>Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.</strong> Nature Genet. 30: 335-341, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11810107[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/10.1038/ng832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810107">Kalachikov et al., 2002</a>), <a href="#11" class="mim-tip-reference" title="Ottman, R., Winawer, M. R., Kalachikov, S., Barker-Cummings, C., Gilliam, T. C., Pedley, T. A., Hauser, W. A. <strong>LGI1 mutations in autosomal dominant partial epilepsy with auditory features.</strong> Neurology 62: 1120-1126, 2004. Note: Erratum: Neurology 62: 2146 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15079011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15079011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15079011[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/10.1212/01.wnl.0000120098.39231.6e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15079011">Ottman et al. (2004)</a> estimated a disease penetrance of 54% (35 to 73%) and noted that LGI1 mutations had been identified in approximately 50% of families tested, suggesting genetic heterogeneity. There were no specific clinical features unique to those patients with LGI1 mutations, but autonomic symptoms were less common and auditory symptoms more common in those with LGI1 mutations. The most common auditory symptoms were simple, unformed sounds, such as buzzing and ringing. A subset of patients with mutations also had idiopathic generalized epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11810107+15079011" 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 2 of 4 families with ADPEAF, <a href="#1" class="mim-tip-reference" title="Berkovic, S. F., Izzillo, P., McMahon, J. M., Harkin, L. A., McIntosh, A. M., Phillips, H. A., Briellmann, R. S., Wallace, R. H., Mazarib, A., Neufeld, M. Y., Korczyn, A. D., Scheffer, I. E., Mulley, J. C. <strong>LGI1 mutations in temporal lobe epilepsies.</strong> Neurology 62: 1115-1119, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15079010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15079010</a>] [<a href="https://doi.org/10.1212/01.wnl.0000118213.94650.81" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15079010">Berkovic et al. (2004)</a> identified heterozygous mutations in the LGI1 gene. One of the families was of Ashkenazi Jewish descent and the other, previously reported by <a href="#2" class="mim-tip-reference" title="Berkovic, S. F., McIntosh, A., Howell, R. A., Mitchell, A., Sheffield, L. J., Hopper, J. L. <strong>Familial temporal lobe epilepsy: a common disorder identified in twins.</strong> Ann. Neurol. 40: 227-235, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8773604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8773604</a>] [<a href="https://doi.org/10.1002/ana.410400214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8773604">Berkovic et al. (1996)</a>, was Australian of British descent. Age at onset ranged from 8 to 50 years (mean, 19.2 years), and auditory auras occurred in 10 of 14 affected individuals. Five individuals had visual symptoms and 7 had secondarily generalized seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15079010+8773604" 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="#8" class="mim-tip-reference" title="Michelucci, R., Mecarelli, O., Bovo, G., Bisulli, F., Testoni, S., Striano, P., Striano, S., Tinuper, P., Nobile, C. <strong>A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures.</strong> Neurology 68: 2150-2151, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17562837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17562837</a>] [<a href="https://doi.org/10.1212/01.wnl.0000264932.44153.3c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17562837">Michelucci et al. (2007)</a> reported a 36-year-old woman with lateral temporal lobe epilepsy manifest as telephone-induced seizures. She had an 11-year history of recurrent partial complex and secondarily generalized seizures evoked almost exclusively by answering the telephone. Other auditory stimuli could also elicit seizures. The seizures were accompanied by distortion or attenuation of sound, inability to understand language, and inability to speak appropriately, all consistent with lateral temporal lobe involvement. Genetic analysis identified a de novo mutation in the LGI1 gene (<a href="/entry/604619#0010">604619.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17562837" 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>Using high-resolution structural brain MRI, <a href="#10" class="mim-tip-reference" title="Ottman, R., Rosenberger, L., Bagic, A., Kamberakis, K., Ritzl, E. K., Wohlschlager, A. M., Shamim, S., Sato, S., Liew, C., Gaillard, W. D., Wiggs, E., Berl, M. M., Reeves-Tyer, P., Baker, E. H., Butman, J. A., Theodore, W. H. <strong>Altered language processing in autosomal dominant partial epilepsy with auditory features.</strong> Neurology 71: 1973-1980, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19064878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19064878</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19064878[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/10.1212/01.wnl.0000336923.29538.5b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19064878">Ottman et al. (2008)</a> found no evidence for structural brain anomalies in any of 17 affected individuals from 7 families with genetically-confirmed ADPEAF. However, functional MRI and magnetoencephalography indicated that that individuals with ADPEAF have deficits in auditory and language processing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19064878" 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>ADPEAF follows autosomal dominant inheritance with decreased penetrance. By analyzing data from 24 previously published families with ADPEAF and mutations in the LGI gene, <a href="#13" class="mim-tip-reference" title="Rosanoff, M. J., Ottman, R. <strong>Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features.</strong> Neurology 71: 567-571, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711109</a>] [<a href="https://doi.org/10.1212/01.wnl.0000323926.77565.ee" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18711109">Rosanoff and Ottman (2008)</a> found that the overall penetrance of the disorder was 67% and did not vary according to mutation type or location in the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18711109" 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 the family with 11 affected individuals studied by <a href="#9" class="mim-tip-reference" title="Ottman, R., Risch, N., Hauser, W. A., Pedley, T. A., Lee, J. H., Barker-Cummings, C., Lustenberger, A., Nagle, K. J., Lee, K. S., Scheuer, M. L., Neystat, M., Susser, M., Wilhelmsen, K. C. <strong>Localization of a gene for partial epilepsy to chromosome 10q.</strong> Nature Genet. 10: 56-60, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647791</a>] [<a href="https://doi.org/10.1038/ng0595-56" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647791">Ottman et al. (1995)</a>, linkage analysis showed strong evidence for localization of a gene for partial epilepsy on 10q. They obtained a maximum 2-point lod score for D10S192 of 3.99 at theta = 0.0. All affected persons shared a single haplotype for 7 tightly linked contiguous markers; the maximum lod score for this haplotype was 4.83 at theta = 0.0. Key recombinants placed the susceptibility locus within a 10-cM interval. The cytogenetic location of the locus as determined by <a href="#9" class="mim-tip-reference" title="Ottman, R., Risch, N., Hauser, W. A., Pedley, T. A., Lee, J. H., Barker-Cummings, C., Lustenberger, A., Nagle, K. J., Lee, K. S., Scheuer, M. L., Neystat, M., Susser, M., Wilhelmsen, K. C. <strong>Localization of a gene for partial epilepsy to chromosome 10q.</strong> Nature Genet. 10: 56-60, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647791</a>] [<a href="https://doi.org/10.1038/ng0595-56" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647791">Ottman et al. (1995)</a> was 10q22-q24. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7647791" 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="#12" class="mim-tip-reference" title="Poza, J. J., Saenz, A., Martinnez-Gil, A., Cheron, N., Cobo, A. M., Urtasun, M., Marti-Masso, J. F., Grid, D., Beckmann, J. S., Prud'homme, J. F., Lopez de Munain, A. <strong>Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.</strong> Ann. Neurol. 45: 182-188, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9989620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9989620</a>] [<a href="https://doi.org/10.1002/1531-8249(199902)45:2<182::aid-ana8>3.0.co;2-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9989620">Poza et al. (1999)</a> described autosomal dominant lateral temporal epilepsy in a large Basque pedigree showing linkage to 10q. <a href="#7" class="mim-tip-reference" title="Mautner, V.-F., Lindenau, M., Gottesleben, A., Goetze, G., Kluwe, L. <strong>Supporting evidence of a gene for partial epilepsy on 10q.</strong> Neurogenetics 3: 31-34, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11085594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11085594</a>] [<a href="https://doi.org/10.1007/s100480000091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11085594">Mautner et al. (2000)</a> reported findings consistent with linkage to 10q in a 4-generation family with 9 individuals with temporal partial epilepsy. The phenotype was characterized by a short acoustic aura followed by rapid secondary generalization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9989620+11085594" 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>By 2-point linkage analysis in their large Norwegian family, <a href="#3" class="mim-tip-reference" title="Brodtkorb, E., Gu, W., Nakken, K. O., Fischer, C., Steinlein, O. K. <strong>Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24.</strong> Epilepsia 43: 228, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11906506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11906506</a>] [<a href="https://doi.org/10.1046/j.1528-1157.2002.32001.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11906506">Brodtkorb et al. (2002)</a> defined a region on chromosome 10q22-q24 that overlapped with the regions defined by <a href="#9" class="mim-tip-reference" title="Ottman, R., Risch, N., Hauser, W. A., Pedley, T. A., Lee, J. H., Barker-Cummings, C., Lustenberger, A., Nagle, K. J., Lee, K. S., Scheuer, M. L., Neystat, M., Susser, M., Wilhelmsen, K. C. <strong>Localization of a gene for partial epilepsy to chromosome 10q.</strong> Nature Genet. 10: 56-60, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647791</a>] [<a href="https://doi.org/10.1038/ng0595-56" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7647791">Ottman et al. (1995)</a> and <a href="#12" class="mim-tip-reference" title="Poza, J. J., Saenz, A., Martinnez-Gil, A., Cheron, N., Cobo, A. M., Urtasun, M., Marti-Masso, J. F., Grid, D., Beckmann, J. S., Prud'homme, J. F., Lopez de Munain, A. <strong>Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.</strong> Ann. Neurol. 45: 182-188, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9989620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9989620</a>] [<a href="https://doi.org/10.1002/1531-8249(199902)45:2<182::aid-ana8>3.0.co;2-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9989620">Poza et al. (1999)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9989620+11906506+7647791" 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="#6" class="mim-tip-reference" title="Kalachikov, S., Evgrafov, O., Ross, B., Winawer, M., Barker-Cummings, C., Boneschi, F. M., Choi, C., Morozov, P., Das, K., Teplitskaya, E., Yu, A., Cayanis, E., Penchaszadeh, G., Kottmann, A. H., Pedley, T. A., Hauser, W. A., Ottman, R., Gilliam, T. C. <strong>Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.</strong> Nature Genet. 30: 335-341, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11810107[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/10.1038/ng832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810107">Kalachikov et al. (2002)</a> constructed a complete, 4.2-Mb physical map across the genetically implicated disease-gene region, identified 28 putative genes, and resequenced all or part of 21 genes before identifying presumptive mutations in 1 copy of the leucine-rich, glioma-inactivated-1 gene (<a href="/entry/604619#0001">604619.0001</a>-<a href="/entry/604619#0003">604619.0003</a>) in each of 5 families with ADPEAF. Previous studies had indicated that loss of both copies of LGI1 promotes glial tumor progression. <a href="#6" class="mim-tip-reference" title="Kalachikov, S., Evgrafov, O., Ross, B., Winawer, M., Barker-Cummings, C., Boneschi, F. M., Choi, C., Morozov, P., Das, K., Teplitskaya, E., Yu, A., Cayanis, E., Penchaszadeh, G., Kottmann, A. H., Pedley, T. A., Hauser, W. A., Ottman, R., Gilliam, T. C. <strong>Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.</strong> Nature Genet. 30: 335-341, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11810107[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/10.1038/ng832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11810107">Kalachikov et al. (2002)</a> showed that the expression pattern of mouse Lgi1 is predominantly neuronal and is consistent with the anatomic regions involved in temporal lobe epilepsy. Although it was not clear how the homozygous loss of a predominantly neuronal gene resulted in glial tumor progression, it was considered that such an effect is possible because neurons are known to inhibit glial mitosis and because interactions between neurons and glia apparently establish precisely regulated homeostasis in these 2 tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11810107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the Norwegian family reported by <a href="#3" class="mim-tip-reference" title="Brodtkorb, E., Gu, W., Nakken, K. O., Fischer, C., Steinlein, O. K. <strong>Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24.</strong> Epilepsia 43: 228, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11906506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11906506</a>] [<a href="https://doi.org/10.1046/j.1528-1157.2002.32001.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11906506">Brodtkorb et al. (2002)</a>, <a href="#5" class="mim-tip-reference" title="Gu, W., Brodtkorb, E., Steinlein, O. K. <strong>LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.</strong> Ann. Neurol. 52: 364-367, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12205652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12205652</a>] [<a href="https://doi.org/10.1002/ana.10280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12205652">Gu et al. (2002)</a> identified a cys46-to-arg mutation (C46R; <a href="/entry/604619#0004">604619.0004</a>) in the LGI1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11906506+12205652" 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 2 of 4 families with ADPEAF, <a href="#1" class="mim-tip-reference" title="Berkovic, S. F., Izzillo, P., McMahon, J. M., Harkin, L. A., McIntosh, A. M., Phillips, H. A., Briellmann, R. S., Wallace, R. H., Mazarib, A., Neufeld, M. Y., Korczyn, A. D., Scheffer, I. E., Mulley, J. C. <strong>LGI1 mutations in temporal lobe epilepsies.</strong> Neurology 62: 1115-1119, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15079010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15079010</a>] [<a href="https://doi.org/10.1212/01.wnl.0000118213.94650.81" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15079010">Berkovic et al. (2004)</a> identified heterozygous mutations in the LGI1 gene. In affected members of the other 2 unrelated families with ADPEAF, they did not identify mutations in the LGI1, LGI2 (<a href="/entry/608301">608301</a>), LGI3 (<a href="/entry/608302">608302</a>), or LGI4 (<a href="/entry/608303">608303</a>) genes. Furthermore, <a href="#1" class="mim-tip-reference" title="Berkovic, S. F., Izzillo, P., McMahon, J. M., Harkin, L. A., McIntosh, A. M., Phillips, H. A., Briellmann, R. S., Wallace, R. H., Mazarib, A., Neufeld, M. Y., Korczyn, A. D., Scheffer, I. E., Mulley, J. C. <strong>LGI1 mutations in temporal lobe epilepsies.</strong> Neurology 62: 1115-1119, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15079010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15079010</a>] [<a href="https://doi.org/10.1212/01.wnl.0000118213.94650.81" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15079010">Berkovic et al. (2004)</a> did not identify mutations in the LGI1 gene in 50 unrelated families or in 21 individuals with other forms of temporal lobe epilepsy, suggesting that LGI1 mutations are specific for ADPEAF. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15079010" 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="#4" class="mim-tip-reference" title="Fanciulli, M., Santulli, L., Errichiello, L., Barozzi, C., Tomasi, L., Rigon, L., Cubeddu, T., de Falco, A., Rampazzo, A., Michelucci, R., Uzzau, S., Striano, S., de Falco, F. A., Striano, P., Nobile, C. <strong>LGI1 microdeletion in autosomal dominant lateral temporal lobe epilepsy.</strong> Neurology 78: 1299-1303, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22496201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22496201</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22496201[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/10.1212/WNL.0b013e3182518328" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22496201">Fanciulli et al. (2012)</a> identified a heterozygous 81-kb deletion encompassing a portion of the upstream region and the first 4 exons of the LGI1 gene (<a href="/entry/604619#0012">604619.0012</a>) in affected members of a 3-generation Italian family with classic ADLTE. The deletion was found by CNV analysis after exon sequencing of the gene failed to identify a point mutation. The findings suggested that CNV analysis is a useful diagnostic tool for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22496201" 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="#14" class="mim-tip-reference" title="Winawer, M. R., Ottman, R., Hauser, W. A., Pedley, T. A. <strong>Autosomal dominant partial epilepsy with auditory features: defining the phenotype.</strong> Neurology 54: 2173-2176, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10851389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10851389</a>] [<a href="https://doi.org/10.1212/wnl.54.11.2173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10851389">Winawer et al. (2000)</a> referred to the disorder as autosomal dominant partial epilepsy with auditory features (ADPEAF). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10851389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Brodtkorb, E., Gu, W., Nakken, K. O., Fischer, C., Steinlein, O. K. <strong>Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24.</strong> Epilepsia 43: 228, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11906506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11906506</a>] [<a href="https://doi.org/10.1046/j.1528-1157.2002.32001.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11906506">Brodtkorb et al. (2002)</a> suggested the term '10q-linked partial epilepsy' for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11906506" 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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Berkovic, S. F., Izzillo, P., McMahon, J. M., Harkin, L. A., McIntosh, A. M., Phillips, H. A., Briellmann, R. S., Wallace, R. H., Mazarib, A., Neufeld, M. Y., Korczyn, A. D., Scheffer, I. E., Mulley, J. C.
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<strong>LGI1 mutations in temporal lobe epilepsies.</strong>
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Neurology 62: 1115-1119, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15079010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15079010</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15079010" 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.0000118213.94650.81" target="_blank">Full Text</a>]
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Berkovic, S. F., McIntosh, A., Howell, R. A., Mitchell, A., Sheffield, L. J., Hopper, J. L.
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<strong>Familial temporal lobe epilepsy: a common disorder identified in twins.</strong>
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Ann. Neurol. 40: 227-235, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8773604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8773604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8773604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410400214" target="_blank">Full Text</a>]
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Brodtkorb, E., Gu, W., Nakken, K. O., Fischer, C., Steinlein, O. K.
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<strong>Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24.</strong>
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Epilepsia 43: 228, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11906506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11906506</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11906506" 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/10.1046/j.1528-1157.2002.32001.x" target="_blank">Full Text</a>]
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Fanciulli, M., Santulli, L., Errichiello, L., Barozzi, C., Tomasi, L., Rigon, L., Cubeddu, T., de Falco, A., Rampazzo, A., Michelucci, R., Uzzau, S., Striano, S., de Falco, F. A., Striano, P., Nobile, C.
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<strong>LGI1 microdeletion in autosomal dominant lateral temporal lobe epilepsy.</strong>
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Neurology 78: 1299-1303, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22496201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22496201</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22496201[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=22496201" 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.0b013e3182518328" target="_blank">Full Text</a>]
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Gu, W., Brodtkorb, E., Steinlein, O. K.
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<strong>LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.</strong>
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Ann. Neurol. 52: 364-367, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12205652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12205652</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12205652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.10280" target="_blank">Full Text</a>]
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Kalachikov, S., Evgrafov, O., Ross, B., Winawer, M., Barker-Cummings, C., Boneschi, F. M., Choi, C., Morozov, P., Das, K., Teplitskaya, E., Yu, A., Cayanis, E., Penchaszadeh, G., Kottmann, A. H., Pedley, T. A., Hauser, W. A., Ottman, R., Gilliam, T. C.
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<strong>Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.</strong>
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Nature Genet. 30: 335-341, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11810107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11810107</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11810107[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=11810107" 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/ng832" target="_blank">Full Text</a>]
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Mautner, V.-F., Lindenau, M., Gottesleben, A., Goetze, G., Kluwe, L.
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<strong>Supporting evidence of a gene for partial epilepsy on 10q.</strong>
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Neurogenetics 3: 31-34, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11085594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11085594</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11085594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s100480000091" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Michelucci2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Michelucci, R., Mecarelli, O., Bovo, G., Bisulli, F., Testoni, S., Striano, P., Striano, S., Tinuper, P., Nobile, C.
|
|
<strong>A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures.</strong>
|
|
Neurology 68: 2150-2151, 2007.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17562837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17562837</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17562837" 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.0000264932.44153.3c" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Ottman1995" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Ottman, R., Risch, N., Hauser, W. A., Pedley, T. A., Lee, J. H., Barker-Cummings, C., Lustenberger, A., Nagle, K. J., Lee, K. S., Scheuer, M. L., Neystat, M., Susser, M., Wilhelmsen, K. C.
|
|
<strong>Localization of a gene for partial epilepsy to chromosome 10q.</strong>
|
|
Nature Genet. 10: 56-60, 1995.
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|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7647791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7647791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7647791" 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/ng0595-56" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Ottman2008" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Ottman, R., Rosenberger, L., Bagic, A., Kamberakis, K., Ritzl, E. K., Wohlschlager, A. M., Shamim, S., Sato, S., Liew, C., Gaillard, W. D., Wiggs, E., Berl, M. M., Reeves-Tyer, P., Baker, E. H., Butman, J. A., Theodore, W. H.
|
|
<strong>Altered language processing in autosomal dominant partial epilepsy with auditory features.</strong>
|
|
Neurology 71: 1973-1980, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19064878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19064878</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19064878[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=19064878" 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.0000336923.29538.5b" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Ottman2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ottman, R., Winawer, M. R., Kalachikov, S., Barker-Cummings, C., Gilliam, T. C., Pedley, T. A., Hauser, W. A.
|
|
<strong>LGI1 mutations in autosomal dominant partial epilepsy with auditory features.</strong>
|
|
Neurology 62: 1120-1126, 2004. Note: Erratum: Neurology 62: 2146 only, 2004.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15079011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15079011</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15079011[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=15079011" 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.0000120098.39231.6e" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Poza1999" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
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Poza, J. J., Saenz, A., Martinnez-Gil, A., Cheron, N., Cobo, A. M., Urtasun, M., Marti-Masso, J. F., Grid, D., Beckmann, J. S., Prud'homme, J. F., Lopez de Munain, A.
|
|
<strong>Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.</strong>
|
|
Ann. Neurol. 45: 182-188, 1999.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9989620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9989620</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9989620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1531-8249(199902)45:2<182::aid-ana8>3.0.co;2-g" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Rosanoff2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rosanoff, M. J., Ottman, R.
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<strong>Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features.</strong>
|
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Neurology 71: 567-571, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18711109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18711109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18711109" 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.0000323926.77565.ee" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Winawer2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Winawer, M. R., Ottman, R., Hauser, W. A., Pedley, T. A.
|
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<strong>Autosomal dominant partial epilepsy with auditory features: defining the phenotype.</strong>
|
|
Neurology 54: 2173-2176, 2000.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10851389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10851389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10851389" 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.54.11.2173" target="_blank">Full Text</a>]
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</p>
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</div>
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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>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Cassandra L. Kniffin - updated : 2/21/2013
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 : 3/12/2009<br>Cassandra L. Kniffin - updated : 9/25/2008<br>Cassandra L. Kniffin - updated : 12/17/2007<br>Cassandra L. Kniffin - updated : 9/16/2004<br>Cassandra L. Kniffin - reorganized : 11/20/2002<br>Cassandra L. Kniffin - updated : 11/20/2002<br>Victor A. McKusick - updated : 1/29/2002<br>Victor A. McKusick - updated : 5/11/2001<br>Victor A. McKusick - updated : 1/20/1998
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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Victor A. McKusick : 5/3/1995
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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alopez : 02/24/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 06/23/2016<br>carol : 7/10/2015<br>ckniffin : 7/7/2015<br>carol : 6/25/2015<br>ckniffin : 6/24/2015<br>carol : 3/27/2014<br>ckniffin : 3/25/2014<br>carol : 3/8/2013<br>ckniffin : 2/21/2013<br>carol : 1/10/2012<br>ckniffin : 1/9/2012<br>wwang : 3/24/2009<br>ckniffin : 3/12/2009<br>wwang : 10/6/2008<br>ckniffin : 9/25/2008<br>wwang : 2/1/2008<br>ckniffin : 12/17/2007<br>alopez : 1/26/2007<br>terry : 1/25/2007<br>ckniffin : 10/4/2005<br>ckniffin : 1/25/2005<br>tkritzer : 9/17/2004<br>ckniffin : 9/16/2004<br>carol : 11/20/2002<br>carol : 11/20/2002<br>ckniffin : 11/20/2002<br>carol : 11/20/2002<br>ckniffin : 11/13/2002<br>alopez : 3/12/2002<br>alopez : 1/29/2002<br>terry : 1/29/2002<br>mcapotos : 5/22/2001<br>terry : 5/22/2001<br>terry : 5/11/2001<br>mark : 2/1/1998<br>mark : 1/22/1998<br>terry : 1/20/1998<br>terry : 11/11/1997<br>mark : 11/4/1997<br>terry : 11/3/1997<br>terry : 4/9/1997<br>jamie : 12/18/1996<br>mimadm : 11/3/1995<br>terry : 10/30/1995<br>mark : 10/17/1995<br>mark : 5/9/1995<br>mark : 5/4/1995<br>mark : 5/3/1995
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 600512
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
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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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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE<br />
|
|
EPILEPSY, PARTIAL, WITH AUDITORY FEATURES; ADPEAF
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 784377008;
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<strong>ORPHA:</strong> 101046;
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<strong>DO:</strong> 0060748;
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</span>
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</p>
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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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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
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<th>
|
|
Gene/Locus
|
|
</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
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</thead>
|
|
<tbody>
|
|
|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
10q23.33
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Epilepsy, familial temporal lobe, 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
600512
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
LGI1
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
604619
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because autosomal dominant familial temporal lobe epilepsy-1 (ETL1) is caused by heterozygous mutation in the LGI1 gene (604619) on chromosome 10q24.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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<p>Autosomal dominant lateral temporal lobe epilepsy is a specific form of temporal lobe epilepsy characterized by partial seizures originating from the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature (summary by Winawer et al., 2000). </p><p><strong><em>Genetic Heterogeneity of Temporal Lobe Epilepsy</em></strong></p><p>
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See also ETL2 (608096), which maps to chromosome 12q; ETL3 (611630), which maps to chromosome 4q; ETL4 (611631), which maps to chromosome 9q; ETL5 (614417), caused by mutation in the CPA6 gene (609562) on chromosome 8q13; ETL6 (615697), which maps to chromosome 3q25-q26; ETL7 (616436), caused by mutation in the RELN gene (600514) on chromosome 7q22; and ETL8 (616461), caused by mutation in the GAL gene (137035) on chromosome 11q13.</p>
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<strong>Clinical Features</strong>
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<p>Most partial or focal epilepsies in which seizures begin in a specific brain region are assumed to be nongenetic. However, relatives of probands with partial epilepsy have an increased risk of epilepsy compared with the general population, suggesting a genetic influence on at least some partial epilepsies (Ottman et al., 1995). </p><p>Ottman et al. (1995) studied a family in which 11 individuals in 3 generations had partial epilepsy classified as idiopathic/cryptogenic. Epilepsy was clearly localization-related in all but 1 of the individuals; the remaining person had only nocturnal seizures and thus could not be classified. In 6 of those with idiopathic/cryptogenic epilepsy and in 1 with remote symptomatic epilepsy, nonspecific auditory disturbances (such as a ringing noise that grew louder or a humming like a machine) were reported as a simple partial component of their seizures. None of the interictal EEGs showed an epileptiform abnormality. The age at onset of epilepsy ranged from 8 to 19 years. All family members had normal intelligence. Seizures occurred infrequently; 7 of the 11 had been free of seizures for 3 years or more before interview. Phenytoin was the primary antiseizure medication prescribed in 10 of the 11 subjects; the remaining subject received carbamazapine. Ottman et al. (1995) noted that the auditory features suggested a neocortical (or lateral) temporal lobe origin. </p><p>Winawer et al. (2000) described the family reported by Ottman et al. (1995) in further detail. Partial seizures were characterized most frequently by sensory symptoms (73% of subjects), including a high frequency of auditory symptoms (55% of subjects), followed in frequency by cephalic, visual, olfactory, and vertiginous symptoms. Somatosensory auras were not reported. Autonomic symptoms (visceral/epigastric and cardiac palpitations) occurred in 45% of patients. Occasional psychic/emotional symptoms were reported (e.g., fear, deja vu, panic, depersonalization). The auditory symptoms ranged from unformed sounds, such as humming and ringing, to distortions and volume changes. Some reported formed sounds, singing and voices, and one subject's description suggested seizures provoked by auditory stimuli. Winawer et al. (2000) emphasized that the features suggested a lateral temporal lobe onset zone. </p><p>Brodtkorb et al. (2002) reported a large Norwegian family in which 20 members over 5 generations had seizures in an autosomal dominant pattern. Twelve affected members were studied: mean age of onset was 18 years (range 4-42); 11 had simple partial seizures, 8 of which were characterized by aphasic features, and many experienced auditory hallucinations; all had secondary generalized tonic-clonic seizures that improved with age. EEG recordings in 4 patients showed temporal lobe activity and the symptoms suggested localization to the lateral neocortical temporal lobe. Two patients died unexpectedly in their twenties. </p><p>In 3 of 10 families with autosomal dominant partial epilepsy with auditory features, Ottman et al. (2004) identified different mutations in the LGI1 gene that cosegregated with the disease phenotype. Including data from an earlier report (Kalachikov et al., 2002), Ottman et al. (2004) estimated a disease penetrance of 54% (35 to 73%) and noted that LGI1 mutations had been identified in approximately 50% of families tested, suggesting genetic heterogeneity. There were no specific clinical features unique to those patients with LGI1 mutations, but autonomic symptoms were less common and auditory symptoms more common in those with LGI1 mutations. The most common auditory symptoms were simple, unformed sounds, such as buzzing and ringing. A subset of patients with mutations also had idiopathic generalized epilepsy. </p><p>In affected members of 2 of 4 families with ADPEAF, Berkovic et al. (2004) identified heterozygous mutations in the LGI1 gene. One of the families was of Ashkenazi Jewish descent and the other, previously reported by Berkovic et al. (1996), was Australian of British descent. Age at onset ranged from 8 to 50 years (mean, 19.2 years), and auditory auras occurred in 10 of 14 affected individuals. Five individuals had visual symptoms and 7 had secondarily generalized seizures. </p><p>Michelucci et al. (2007) reported a 36-year-old woman with lateral temporal lobe epilepsy manifest as telephone-induced seizures. She had an 11-year history of recurrent partial complex and secondarily generalized seizures evoked almost exclusively by answering the telephone. Other auditory stimuli could also elicit seizures. The seizures were accompanied by distortion or attenuation of sound, inability to understand language, and inability to speak appropriately, all consistent with lateral temporal lobe involvement. Genetic analysis identified a de novo mutation in the LGI1 gene (604619.0010). </p><p>Using high-resolution structural brain MRI, Ottman et al. (2008) found no evidence for structural brain anomalies in any of 17 affected individuals from 7 families with genetically-confirmed ADPEAF. However, functional MRI and magnetoencephalography indicated that that individuals with ADPEAF have deficits in auditory and language processing. </p>
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<strong>Inheritance</strong>
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<p>ADPEAF follows autosomal dominant inheritance with decreased penetrance. By analyzing data from 24 previously published families with ADPEAF and mutations in the LGI gene, Rosanoff and Ottman (2008) found that the overall penetrance of the disorder was 67% and did not vary according to mutation type or location in the gene. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>In the family with 11 affected individuals studied by Ottman et al. (1995), linkage analysis showed strong evidence for localization of a gene for partial epilepsy on 10q. They obtained a maximum 2-point lod score for D10S192 of 3.99 at theta = 0.0. All affected persons shared a single haplotype for 7 tightly linked contiguous markers; the maximum lod score for this haplotype was 4.83 at theta = 0.0. Key recombinants placed the susceptibility locus within a 10-cM interval. The cytogenetic location of the locus as determined by Ottman et al. (1995) was 10q22-q24. </p><p>Poza et al. (1999) described autosomal dominant lateral temporal epilepsy in a large Basque pedigree showing linkage to 10q. Mautner et al. (2000) reported findings consistent with linkage to 10q in a 4-generation family with 9 individuals with temporal partial epilepsy. The phenotype was characterized by a short acoustic aura followed by rapid secondary generalization. </p><p>By 2-point linkage analysis in their large Norwegian family, Brodtkorb et al. (2002) defined a region on chromosome 10q22-q24 that overlapped with the regions defined by Ottman et al. (1995) and Poza et al. (1999). </p>
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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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<p>Kalachikov et al. (2002) constructed a complete, 4.2-Mb physical map across the genetically implicated disease-gene region, identified 28 putative genes, and resequenced all or part of 21 genes before identifying presumptive mutations in 1 copy of the leucine-rich, glioma-inactivated-1 gene (604619.0001-604619.0003) in each of 5 families with ADPEAF. Previous studies had indicated that loss of both copies of LGI1 promotes glial tumor progression. Kalachikov et al. (2002) showed that the expression pattern of mouse Lgi1 is predominantly neuronal and is consistent with the anatomic regions involved in temporal lobe epilepsy. Although it was not clear how the homozygous loss of a predominantly neuronal gene resulted in glial tumor progression, it was considered that such an effect is possible because neurons are known to inhibit glial mitosis and because interactions between neurons and glia apparently establish precisely regulated homeostasis in these 2 tissues. </p><p>In the Norwegian family reported by Brodtkorb et al. (2002), Gu et al. (2002) identified a cys46-to-arg mutation (C46R; 604619.0004) in the LGI1 gene. </p><p>In affected members of 2 of 4 families with ADPEAF, Berkovic et al. (2004) identified heterozygous mutations in the LGI1 gene. In affected members of the other 2 unrelated families with ADPEAF, they did not identify mutations in the LGI1, LGI2 (608301), LGI3 (608302), or LGI4 (608303) genes. Furthermore, Berkovic et al. (2004) did not identify mutations in the LGI1 gene in 50 unrelated families or in 21 individuals with other forms of temporal lobe epilepsy, suggesting that LGI1 mutations are specific for ADPEAF. </p><p>Fanciulli et al. (2012) identified a heterozygous 81-kb deletion encompassing a portion of the upstream region and the first 4 exons of the LGI1 gene (604619.0012) in affected members of a 3-generation Italian family with classic ADLTE. The deletion was found by CNV analysis after exon sequencing of the gene failed to identify a point mutation. The findings suggested that CNV analysis is a useful diagnostic tool for this disorder. </p>
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<h4>
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<strong>Nomenclature</strong>
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</h4>
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<p>Winawer et al. (2000) referred to the disorder as autosomal dominant partial epilepsy with auditory features (ADPEAF). </p><p>Brodtkorb et al. (2002) suggested the term '10q-linked partial epilepsy' for this disorder. </p>
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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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<p />
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</div>
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Berkovic, S. F., Izzillo, P., McMahon, J. M., Harkin, L. A., McIntosh, A. M., Phillips, H. A., Briellmann, R. S., Wallace, R. H., Mazarib, A., Neufeld, M. Y., Korczyn, A. D., Scheffer, I. E., Mulley, J. C.
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<strong>LGI1 mutations in temporal lobe epilepsies.</strong>
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Neurology 62: 1115-1119, 2004.
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Berkovic, S. F., McIntosh, A., Howell, R. A., Mitchell, A., Sheffield, L. J., Hopper, J. L.
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<strong>Familial temporal lobe epilepsy: a common disorder identified in twins.</strong>
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<p class="mim-text-font">
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Brodtkorb, E., Gu, W., Nakken, K. O., Fischer, C., Steinlein, O. K.
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<strong>Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24.</strong>
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Epilepsia 43: 228, 2002.
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Fanciulli, M., Santulli, L., Errichiello, L., Barozzi, C., Tomasi, L., Rigon, L., Cubeddu, T., de Falco, A., Rampazzo, A., Michelucci, R., Uzzau, S., Striano, S., de Falco, F. A., Striano, P., Nobile, C.
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<strong>LGI1 microdeletion in autosomal dominant lateral temporal lobe epilepsy.</strong>
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Neurology 78: 1299-1303, 2012.
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[PubMed: 22496201]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3182518328]
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<p class="mim-text-font">
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Gu, W., Brodtkorb, E., Steinlein, O. K.
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<strong>LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures.</strong>
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Ann. Neurol. 52: 364-367, 2002.
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<p class="mim-text-font">
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Kalachikov, S., Evgrafov, O., Ross, B., Winawer, M., Barker-Cummings, C., Boneschi, F. M., Choi, C., Morozov, P., Das, K., Teplitskaya, E., Yu, A., Cayanis, E., Penchaszadeh, G., Kottmann, A. H., Pedley, T. A., Hauser, W. A., Ottman, R., Gilliam, T. C.
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<strong>Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features.</strong>
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<p class="mim-text-font">
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Mautner, V.-F., Lindenau, M., Gottesleben, A., Goetze, G., Kluwe, L.
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<strong>Supporting evidence of a gene for partial epilepsy on 10q.</strong>
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<p class="mim-text-font">
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Michelucci, R., Mecarelli, O., Bovo, G., Bisulli, F., Testoni, S., Striano, P., Striano, S., Tinuper, P., Nobile, C.
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<strong>A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures.</strong>
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[Full Text: https://doi.org/10.1212/01.wnl.0000264932.44153.3c]
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</p>
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Ottman, R., Risch, N., Hauser, W. A., Pedley, T. A., Lee, J. H., Barker-Cummings, C., Lustenberger, A., Nagle, K. J., Lee, K. S., Scheuer, M. L., Neystat, M., Susser, M., Wilhelmsen, K. C.
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<strong>Localization of a gene for partial epilepsy to chromosome 10q.</strong>
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Nature Genet. 10: 56-60, 1995.
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[Full Text: https://doi.org/10.1038/ng0595-56]
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Ottman, R., Rosenberger, L., Bagic, A., Kamberakis, K., Ritzl, E. K., Wohlschlager, A. M., Shamim, S., Sato, S., Liew, C., Gaillard, W. D., Wiggs, E., Berl, M. M., Reeves-Tyer, P., Baker, E. H., Butman, J. A., Theodore, W. H.
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<strong>Altered language processing in autosomal dominant partial epilepsy with auditory features.</strong>
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[PubMed: 19064878]
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[Full Text: https://doi.org/10.1212/01.wnl.0000336923.29538.5b]
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Ottman, R., Winawer, M. R., Kalachikov, S., Barker-Cummings, C., Gilliam, T. C., Pedley, T. A., Hauser, W. A.
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<strong>LGI1 mutations in autosomal dominant partial epilepsy with auditory features.</strong>
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Neurology 62: 1120-1126, 2004. Note: Erratum: Neurology 62: 2146 only, 2004.
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[PubMed: 15079011]
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[Full Text: https://doi.org/10.1212/01.wnl.0000120098.39231.6e]
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Poza, J. J., Saenz, A., Martinnez-Gil, A., Cheron, N., Cobo, A. M., Urtasun, M., Marti-Masso, J. F., Grid, D., Beckmann, J. S., Prud'homme, J. F., Lopez de Munain, A.
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<strong>Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.</strong>
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Ann. Neurol. 45: 182-188, 1999.
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[PubMed: 9989620]
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[Full Text: https://doi.org/10.1002/1531-8249(199902)45:2<182::aid-ana8>3.0.co;2-g]
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<p class="mim-text-font">
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Rosanoff, M. J., Ottman, R.
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<strong>Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features.</strong>
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Neurology 71: 567-571, 2008.
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[PubMed: 18711109]
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[Full Text: https://doi.org/10.1212/01.wnl.0000323926.77565.ee]
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<p class="mim-text-font">
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Winawer, M. R., Ottman, R., Hauser, W. A., Pedley, T. A.
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<strong>Autosomal dominant partial epilepsy with auditory features: defining the phenotype.</strong>
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Neurology 54: 2173-2176, 2000.
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[PubMed: 10851389]
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[Full Text: https://doi.org/10.1212/wnl.54.11.2173]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin - updated : 2/21/2013<br>Cassandra L. Kniffin - updated : 3/12/2009<br>Cassandra L. Kniffin - updated : 9/25/2008<br>Cassandra L. Kniffin - updated : 12/17/2007<br>Cassandra L. Kniffin - updated : 9/16/2004<br>Cassandra L. Kniffin - reorganized : 11/20/2002<br>Cassandra L. Kniffin - updated : 11/20/2002<br>Victor A. McKusick - updated : 1/29/2002<br>Victor A. McKusick - updated : 5/11/2001<br>Victor A. McKusick - updated : 1/20/1998
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Victor A. McKusick : 5/3/1995
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Edit History:
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