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<title>
Entry
- #607628 - EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11
- OMIM
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<span class="h4">#607628</span>
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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/607628"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS600669,PS254770,PS607631"> <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="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
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<li role="presentation">
<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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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(EPILEPSY, IDIOPATHIC GENERALIZED) OR (CLCN2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=102&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/gtr/all/tests/?term=607628[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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="http://www.informatics.jax.org/disease/607628" 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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<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.">
&nbsp;
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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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 307<br />
">ICD+</a>
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<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
607628
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8, INCLUDED; EJM8, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED; EJA2, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918">
3q27.1
</a>
</span>
</td>
<td>
<span class="mim-font">
{Epilepsy, idiopathic generalized, susceptibility to, 11}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> 607628 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
CLCN2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> 600570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918">
3q27.1
</a>
</span>
</td>
<td>
<span class="mim-font">
{Epilepsy, juvenile absence, susceptibility to, 2}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> 607628 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
CLCN2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> 600570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918">
3q27.1
</a>
</span>
</td>
<td>
<span class="mim-font">
{Epilepsy, juvenile myoclonic, susceptibility to, 8}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> 607628 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
CLCN2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> 600570 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<a href="/clinicalSynopsis/607628" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/607628" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/607628" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<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>
<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">
- Generalized tonic-clonic seizures (GTCS) on awakening <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843347&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007193" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007193</a>]</span><br /> -
GTCS during 'leisure' time (evening) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843348&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843348</a>]</span><br /> -
Myoclonic seizures may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843349</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1208991001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1208991001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032794</a>]</span><br /> -
Absence seizures may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843350&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843350</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79631006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79631006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002121</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Variable age of onset (6 to 35 years)<br /> -
Precipitated by sleep deprivation<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 chloride channel-2 gene (CLCN2, <a href="/entry/600570#0001">600570.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;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, myoclonic juvenile
- <a href="/phenotypicSeries/PS254770">PS254770</a>
- 15 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/61?start=-3&limit=10&highlight=61"> 1p36.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613060"> {?Generalized epilepsy with febrile seizures plus, type 5, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613060"> 613060 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137163"> GABRD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137163"> 137163 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/690?start=-3&limit=10&highlight=690"> 2q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607682"> {Epilepsy, juvenile myoclonic, susceptibility to, 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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607682"> 607682 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601949"> CACNB4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601949"> 601949 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/690?start=-3&limit=10&highlight=690"> 2q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607682"> {Epilepsy, idiopathic generalized, susceptibility to, 9} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607682"> 607682 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601949"> CACNB4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601949"> 601949 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/884?start=-3&limit=10&highlight=884"> 2q33-q36 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614280"> {Epilepsy, juvenile myoclonic, susceptibility to, 9} </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/614280"> 614280 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614280"> EJM9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614280"> 614280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> {Epilepsy, juvenile myoclonic, susceptibility to, 8} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> 607628 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> CLCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> 600570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> {Epilepsy, idiopathic generalized, susceptibility to, 11} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> 607628 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> CLCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> 600570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> {Epilepsy, juvenile absence, susceptibility to, 2} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> 607628 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> CLCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> 600570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/188?start=-3&limit=10&highlight=188"> 5q12-q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611364"> Myoclonic epilepsy, juvenile, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611364"> 611364 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611364"> EJM4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611364"> 611364 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/735?start=-3&limit=10&highlight=735"> 5q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611136"> {Epilepsy, childhood absence, susceptibility to, 4} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611136"> 611136 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137160"> GABRA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137160"> 137160 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/735?start=-3&limit=10&highlight=735"> 5q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611136"> {Epilepsy, juvenile myoclonic, susceptibility to, 5} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611136"> 611136 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137160"> GABRA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137160"> 137160 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/246?start=-3&limit=10&highlight=246"> 6p21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608816"> Epilepsy, juvenile myoclonic 3 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608816"> 608816 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608816"> EJM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608816"> 608816 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/588?start=-3&limit=10&highlight=588"> 6p12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254770"> {Myoclonic epilepsy, juvenile, susceptibility to, 1} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254770"> 254770 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608815"> EFHC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608815"> 608815 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/597?start=-3&limit=10&highlight=597"> 6p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617924"> {Epilepsy, juvenile myoclonic, susceptibility to, 10} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617924"> 617924 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612325"> ICK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612325"> 612325 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/65?start=-3&limit=10&highlight=65"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604827"> Epilepsy, juvenile myoclonic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Isolated cases">IC</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/604827"> 604827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604827"> EIG7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604827"> 604827 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/65?start=-3&limit=10&highlight=65"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604827"> {Epilepsy, idiopathic generalized, susceptibility to, 7} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Isolated cases">IC</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/604827"> 604827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604827"> EIG7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604827"> 604827 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Epilepsy, idiopathic generalized
- <a href="/phenotypicSeries/PS600669">PS600669</a>
- 27 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/61?start=-3&limit=10&highlight=61"> 1p36.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613060"> {?Generalized epilepsy with febrile seizures plus, type 5, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613060"> 613060 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137163"> GABRD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137163"> 137163 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/513?start=-3&limit=10&highlight=513"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614847"> {Epilepsy, idiopathic generalized, susceptibility to, 12} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614847"> 614847 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138140"> SLC2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138140"> 138140 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/690?start=-3&limit=10&highlight=690"> 2q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607682"> {Epilepsy, idiopathic generalized, susceptibility to, 9} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607682"> 607682 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601949"> CACNB4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601949"> 601949 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/690?start=-3&limit=10&highlight=690"> 2q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607682"> {Epilepsy, juvenile myoclonic, susceptibility to, 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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607682"> 607682 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601949"> CACNB4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601949"> 601949 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/599?start=-3&limit=10&highlight=599"> 3q13.33-q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612899"> {?Epilepsy idiopathic generalized, susceptibility to, 8} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612899"> 612899 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601199"> CASR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601199"> 601199 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> {Epilepsy, juvenile absence, susceptibility to, 2} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> 607628 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> CLCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> 600570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> {Epilepsy, juvenile myoclonic, susceptibility to, 8} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> 607628 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> CLCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> 600570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> {Epilepsy, idiopathic generalized, susceptibility to, 11} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> 607628 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> CLCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> 600570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/735?start=-3&limit=10&highlight=735"> 5q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611136"> {Epilepsy, childhood absence, susceptibility to, 4} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611136"> 611136 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137160"> GABRA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137160"> 137160 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/735?start=-3&limit=10&highlight=735"> 5q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611136"> {Epilepsy, juvenile myoclonic, susceptibility to, 5} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611136"> 611136 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137160"> GABRA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137160"> 137160 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/495?start=-3&limit=10&highlight=495"> 8q24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600669"> {Epilepsy, idiopathic generalized, susceptibility to, 1} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600669"> 600669 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600669"> EIG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600669"> 600669 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/246?start=-3&limit=10&highlight=246"> 9q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618357"> {Epilepsy, idiopathic generalized, susceptibility to, 15} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618357"> 618357 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601972"> RORB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601972"> 601972 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/417?start=-3&limit=10&highlight=417"> 9q32-q33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608762"> {Epilepsy, idiopathic generalized, susceptibility to, 3} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/608762"> 608762 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608762"> EIG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608762"> 608762 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/135?start=-3&limit=10&highlight=135"> 10p11.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611934"> {Epilepsy, idiopathic generalized, susceptibility to, 5} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611934"> 611934 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611934"> EIG5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611934"> 611934 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/325?start=-3&limit=10&highlight=325"> 10q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618596"> {Epilepsy, idiopathic generalized, susceptibility to, 16} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618596"> 618596 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600150"> KCNMA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600150"> 600150 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/543?start=-3&limit=10&highlight=543"> 10q25-q26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609750"> {Epilepsy, idiopathic generalized, susceptibility to 4} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609750"> 609750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609750"> EIG4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609750"> 609750 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/271?start=-3&limit=10&highlight=271"> 14q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606972"> {Epilepsy, idiopathic generalized, susceptibility to, 2} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606972"> 606972 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606972"> EIG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606972"> 606972 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/65?start=-3&limit=10&highlight=65"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604827"> {Epilepsy, idiopathic generalized, susceptibility to, 7} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Isolated cases">IC</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/604827"> 604827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604827"> EIG7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604827"> 604827 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/65?start=-3&limit=10&highlight=65"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604827"> Epilepsy, juvenile myoclonic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Isolated cases">IC</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/604827"> 604827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604827"> EIG7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604827"> 604827 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/361?start=-3&limit=10&highlight=361"> 15q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619521"> {Epilepsy, idiopathic generalized, susceptibility to, 18} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619521"> 619521 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605206"> HCN4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605206"> 605206 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/51?start=-3&limit=10&highlight=51"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611942"> {Epilepsy, idiopathic generalized, susceptibility to, 6} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611942"> 611942 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607904"> CACNA1H </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607904"> 607904 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/51?start=-3&limit=10&highlight=51"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611942"> {Epilepsy, childhood absence, susceptibility to, 6} </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611942"> 611942 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607904"> CACNA1H </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607904"> 607904 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/21?start=-3&limit=10&highlight=21"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602477"> Febrile seizures, familial, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602477"> 602477 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602781"> HCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602781"> 602781 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/21?start=-3&limit=10&highlight=21"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602477"> Generalized epilepsy with febrile seizures plus, type 11 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602477"> 602477 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602781"> HCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602781"> 602781 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/21?start=-3&limit=10&highlight=21"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602477"> {Epilepsy, idiopathic generalized, susceptibility to, 17} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602477"> 602477 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602781"> HCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602781"> 602781 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/353?start=-3&limit=10&highlight=353"> 20q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616685"> {Epilepsy, idiopathic generalized, susceptibility to, 14} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616685"> 616685 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606726"> SLC12A5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606726"> 606726 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/17?start=-3&limit=10&highlight=17"> 21q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621064"> {Epilepsy, idiopathic generalized, susceptibility to, 19} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621064"> 621064 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604736"> USP25 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604736"> 604736 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Epilepsy, juvenile absence
- <a href="/phenotypicSeries/PS607631">PS607631</a>
- 4 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/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> {Epilepsy, juvenile myoclonic, susceptibility to, 8} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> 607628 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> CLCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> 600570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> {Epilepsy, idiopathic generalized, susceptibility to, 11} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> 607628 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> CLCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> 600570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/918?start=-3&limit=10&highlight=918"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> {Epilepsy, juvenile absence, susceptibility to, 2} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607628"> 607628 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> CLCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600570"> 600570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/588?start=-3&limit=10&highlight=588"> 6p12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607631"> {Epilepsy, juvenile absence, susceptibility to, 1} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607631"> 607631 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608815"> EFHC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608815"> 608815 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<div>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>TEXT</strong>
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</span>
</h4>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because some evidence has suggested that susceptibility to idiopathic generalized epilepsy-11 (EIG11), juvenile myoclonic epilepsy-8 (EJM8), and juvenile absence epilepsy-2 (EJA2) may be conferred by variation in the chloride channel-2 gene (CLCN2; <a href="/entry/600570">600570</a>) on chromosome 3q27. However, there has been some controversy over whether variation in the CLCN2 gene has a role in epilepsy (see MOLECULAR GENETICS).</p>
</span>
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<a id="description" class="mim-anchor"></a>
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<p>Both juvenile myoclonic epilepsy and juvenile absence epilepsy are subtypes of idiopathic generalized epilepsy (EIG).</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of these disorders, see EIG1 (<a href="/entry/600669">600669</a>), EJM1 (<a href="/entry/254770">254770</a>), and EJA1 (<a href="/entry/607631">607631</a>).</p>
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<p><a href="#6" class="mim-tip-reference" title="Sander, T., Schulz, H., Saar, K., Gennaro, E., Riggio, M. C., Bianchi, A., Zara, F., Luna, D., Bulteau, C., Kaminska, A., Ville, D., Cieuta, C., and 14 others. &lt;strong&gt;Genome search for susceptibility loci of common idiopathic generalised epilepsies.&lt;/strong&gt; Hum. Molec. Genet. 9: 1465-1472, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10888596/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10888596&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/9.10.1465&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10888596">Sander et al. (2000)</a> used nonparametric multipoint linkage analysis to identify susceptibility loci among 130 IGE-multiplex families ascertained through a proband with childhood or juvenile absence epilepsy or juvenile myoclonic epilepsy, and 1 or more sibs affected by an IGE trait. They obtained evidence for a novel IGE susceptibility locus on chromosome 3q26 with a peak nonparametric linkage (NPL) score of 4.19 at D3S3725 (p = 0.000017). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888596" 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 2 sibs with juvenile absence epilepsy found by <a href="#6" class="mim-tip-reference" title="Sander, T., Schulz, H., Saar, K., Gennaro, E., Riggio, M. C., Bianchi, A., Zara, F., Luna, D., Bulteau, C., Kaminska, A., Ville, D., Cieuta, C., and 14 others. &lt;strong&gt;Genome search for susceptibility loci of common idiopathic generalised epilepsies.&lt;/strong&gt; Hum. Molec. Genet. 9: 1465-1472, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10888596/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10888596&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/9.10.1465&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10888596">Sander et al. (2000)</a> to be linked to chromosome 3q26, <a href="#1" class="mim-tip-reference" title="Haug, K., Warnstedt, M., Alekov, A. K., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J., Horvath, S., Hallmann, K., and 13 others. &lt;strong&gt;Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.&lt;/strong&gt; Nature Genet. 33: 527-532, 2003. Note: Retraction: Nature Genet. 41: 1043 only, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12612585/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12612585&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1121&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12612585">Haug et al. (2003)</a> identified a heterozygous mutation in the CLCN2 gene (G715E; <a href="/entry/600570#0003">600570.0003</a>). Another sib with generalized spike-wave discharges on EEG also carried the mutation. The father, who also carried the mutation, reportedly had unclassified seizures in childhood, but his severe alcoholism as an adult rendered his disease status uncertain. Functional studies of the mutant channel showed normal current amplitudes, but altered voltage-dependent gating, potentially leading to hyperexcitability. The family structure, diagnosis, and mutation status were confirmed by <a href="#3" class="mim-tip-reference" title="Kleefuss-Lie, A., Friedl, W., Cichon, S., Haug, K., Warnstedt, M., Alekov, A., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., and 15 others. &lt;strong&gt;CLCN2 variants in idiopathic generalized epilepsy. (Letter)&lt;/strong&gt; Nature Genet. 41: 954-955, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19710712/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19710712&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0909-954&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19710712">Kleefuss-Lie et al. (2009)</a>. The mutation was not observed in 4,700 German control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12612585+19710712+10888596" 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 46 unrelated families with IGE localized to 3q26 (including some of the families reported by <a href="#6" class="mim-tip-reference" title="Sander, T., Schulz, H., Saar, K., Gennaro, E., Riggio, M. C., Bianchi, A., Zara, F., Luna, D., Bulteau, C., Kaminska, A., Ville, D., Cieuta, C., and 14 others. &lt;strong&gt;Genome search for susceptibility loci of common idiopathic generalised epilepsies.&lt;/strong&gt; Hum. Molec. Genet. 9: 1465-1472, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10888596/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10888596&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/9.10.1465&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10888596">Sander et al. (2000)</a>), <a href="#1" class="mim-tip-reference" title="Haug, K., Warnstedt, M., Alekov, A. K., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J., Horvath, S., Hallmann, K., and 13 others. &lt;strong&gt;Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.&lt;/strong&gt; Nature Genet. 33: 527-532, 2003. Note: Retraction: Nature Genet. 41: 1043 only, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12612585/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12612585&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1121&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12612585">Haug et al. (2003)</a> identified 3 mutations in the CLCN2 gene (<a href="/entry/600570#0001">600570.0001</a>-<a href="/entry/600570#0003">600570.0003</a>). In a reevaluation of 2 of the families, 1 with juvenile myoclonic epilepsy and 1 with childhood absence epilepsy (<a href="#1" class="mim-tip-reference" title="Haug, K., Warnstedt, M., Alekov, A. K., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J., Horvath, S., Hallmann, K., and 13 others. &lt;strong&gt;Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.&lt;/strong&gt; Nature Genet. 33: 527-532, 2003. Note: Retraction: Nature Genet. 41: 1043 only, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12612585/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12612585&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1121&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12612585">Haug et al., 2003</a>), <a href="#3" class="mim-tip-reference" title="Kleefuss-Lie, A., Friedl, W., Cichon, S., Haug, K., Warnstedt, M., Alekov, A., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., and 15 others. &lt;strong&gt;CLCN2 variants in idiopathic generalized epilepsy. (Letter)&lt;/strong&gt; Nature Genet. 41: 954-955, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19710712/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19710712&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0909-954&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19710712">Kleefuss-Lie et al. (2009)</a> found discrepancies in the family structure, phenotype, and genetic analysis. On this basis, all but one of the original authors retracted the paper. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12612585+19710712+10888596" 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="Niemeyer, M. I., Cid, L. P., Sepulveda, F. V., Blanz, J., Auberson, M., Jentsch, T. J. &lt;strong&gt;No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. (Letter)&lt;/strong&gt; Nature Genet. 42: 3 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20037607/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20037607&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0110-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20037607">Niemeyer et al. (2010)</a> disagreed with the conclusion by <a href="#3" class="mim-tip-reference" title="Kleefuss-Lie, A., Friedl, W., Cichon, S., Haug, K., Warnstedt, M., Alekov, A., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., and 15 others. &lt;strong&gt;CLCN2 variants in idiopathic generalized epilepsy. (Letter)&lt;/strong&gt; Nature Genet. 41: 954-955, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19710712/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19710712&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0909-954&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19710712">Kleefuss-Lie et al. (2009)</a> that some of the work by <a href="#1" class="mim-tip-reference" title="Haug, K., Warnstedt, M., Alekov, A. K., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J., Horvath, S., Hallmann, K., and 13 others. &lt;strong&gt;Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.&lt;/strong&gt; Nature Genet. 33: 527-532, 2003. Note: Retraction: Nature Genet. 41: 1043 only, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12612585/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12612585&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1121&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12612585">Haug et al. (2003)</a> had merit. Based on lack of functional consequences of the variants reported by <a href="#1" class="mim-tip-reference" title="Haug, K., Warnstedt, M., Alekov, A. K., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J., Horvath, S., Hallmann, K., and 13 others. &lt;strong&gt;Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.&lt;/strong&gt; Nature Genet. 33: 527-532, 2003. Note: Retraction: Nature Genet. 41: 1043 only, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12612585/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12612585&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1121&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12612585">Haug et al. (2003)</a> (<a href="/entry/600570#0001">600570.0001</a>-<a href="/entry/600570#0003">600570.0003</a>), <a href="#4" class="mim-tip-reference" title="Niemeyer, M. I., Cid, L. P., Sepulveda, F. V., Blanz, J., Auberson, M., Jentsch, T. J. &lt;strong&gt;No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. (Letter)&lt;/strong&gt; Nature Genet. 42: 3 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20037607/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20037607&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0110-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20037607">Niemeyer et al. (2010)</a> asserted that there is no evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12612585+19710712+20037607" 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 2 sibs of Tunisian origin with juvenile myoclonic epilepsy, <a href="#5" class="mim-tip-reference" title="Saint-Martin, C., Gauvain, G., Teodorescu, G., Gourfinkel-An, I., Fedirko, E., Weber, Y. G., Maljevic, S., Ernst, J.-P., Garcia-Olivares, J., Fahlke, C., Nabbout, R., LeGuern, E., Lerche, H., Poncer, J. C., Depienne, C. &lt;strong&gt;Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.&lt;/strong&gt; Hum. Mutat. 30: 397-405, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19191339/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19191339&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20876&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19191339">Saint-Martin et al. (2009)</a> identified a heterozygous mutation in the CLCN2 gene (R235Q; <a href="/entry/600570#0004">600570.0004</a>). Another sib with JME was not available for genetic analysis. The mutation was not observed in 263 control individuals from North Africa or 183 French controls. <a href="#5" class="mim-tip-reference" title="Saint-Martin, C., Gauvain, G., Teodorescu, G., Gourfinkel-An, I., Fedirko, E., Weber, Y. G., Maljevic, S., Ernst, J.-P., Garcia-Olivares, J., Fahlke, C., Nabbout, R., LeGuern, E., Lerche, H., Poncer, J. C., Depienne, C. &lt;strong&gt;Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.&lt;/strong&gt; Hum. Mutat. 30: 397-405, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19191339/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19191339&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20876&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19191339">Saint-Martin et al. (2009)</a> identified a different heterozygous mutation in the CLCN2 gene (R577Q; <a href="/entry/600570#0005">600570.0005</a>) in 2 German sibs with idiopathic generalized epilepsy. The mutation was not observed in 203 German controls or 183 French controls. In both families, the unaffected father also had the mutation, suggesting either reduced penetrance or that additional unidentified factors are necessary for full phenotypic expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19191339" 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="#2" class="mim-tip-reference" title="Heyne, H. O., Artomov, M., Battke, F., Bianchini, C., Smith, D. R., Liebmann, N., Tadigotla, V., Stanley, C. M., Lal, D., Rehm, H., Lerche, H., Daly, M. J., Helbig, I., Biskup, S., Weber, Y. G., Lemke, J. R. &lt;strong&gt;Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.&lt;/strong&gt; Genet. Med. 21: 2496-2503, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31056551/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31056551&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41436-019-0531-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31056551">Heyne et al. (2019)</a> found identical frequencies of ultrarare CLCN2 variants in 6,994 individuals with neurodevelopmental disorder with epilepsy compared with controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31056551" 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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<a id="nomenclature" class="mim-anchor"></a>
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<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Nomenclature</strong>
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<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>'ECA3' was previously used to designate the locus on 3q26 for childhood absence epilepsy; this had since been removed because the paper was retracted (<a href="#1" class="mim-tip-reference" title="Haug, K., Warnstedt, M., Alekov, A. K., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J., Horvath, S., Hallmann, K., and 13 others. &lt;strong&gt;Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.&lt;/strong&gt; Nature Genet. 33: 527-532, 2003. Note: Retraction: Nature Genet. 41: 1043 only, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12612585/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12612585&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1121&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12612585">Haug et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12612585" 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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<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</h4>
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<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Haug2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Haug, K., Warnstedt, M., Alekov, A. K., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J., Horvath, S., Hallmann, K., and 13 others.
<strong>Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.</strong>
Nature Genet. 33: 527-532, 2003. Note: Retraction: Nature Genet. 41: 1043 only, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12612585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12612585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12612585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1121" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Heyne2019" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heyne, H. O., Artomov, M., Battke, F., Bianchini, C., Smith, D. R., Liebmann, N., Tadigotla, V., Stanley, C. M., Lal, D., Rehm, H., Lerche, H., Daly, M. J., Helbig, I., Biskup, S., Weber, Y. G., Lemke, J. R.
<strong>Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.</strong>
Genet. Med. 21: 2496-2503, 2019.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31056551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31056551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31056551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/s41436-019-0531-0" target="_blank">Full Text</a>]
</p>
</div>
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<a id="3" class="mim-anchor"></a>
<a id="Kleefuss-Lie2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kleefuss-Lie, A., Friedl, W., Cichon, S., Haug, K., Warnstedt, M., Alekov, A., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., and 15 others.
<strong>CLCN2 variants in idiopathic generalized epilepsy. (Letter)</strong>
Nature Genet. 41: 954-955, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19710712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19710712</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19710712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng0909-954" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="4" class="mim-anchor"></a>
<a id="Niemeyer2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Niemeyer, M. I., Cid, L. P., Sepulveda, F. V., Blanz, J., Auberson, M., Jentsch, T. J.
<strong>No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. (Letter)</strong>
Nature Genet. 42: 3 only, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20037607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20037607</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20037607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng0110-3" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Saint-Martin2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Saint-Martin, C., Gauvain, G., Teodorescu, G., Gourfinkel-An, I., Fedirko, E., Weber, Y. G., Maljevic, S., Ernst, J.-P., Garcia-Olivares, J., Fahlke, C., Nabbout, R., LeGuern, E., Lerche, H., Poncer, J. C., Depienne, C.
<strong>Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.</strong>
Hum. Mutat. 30: 397-405, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19191339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19191339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19191339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20876" target="_blank">Full Text</a>]
</p>
</div>
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<a id="6" class="mim-anchor"></a>
<a id="Sander2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sander, T., Schulz, H., Saar, K., Gennaro, E., Riggio, M. C., Bianchi, A., Zara, F., Luna, D., Bulteau, C., Kaminska, A., Ville, D., Cieuta, C., and 14 others.
<strong>Genome search for susceptibility loci of common idiopathic generalised epilepsies.</strong>
Hum. Molec. Genet. 9: 1465-1472, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10888596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10888596</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10888596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/9.10.1465" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
Ada Hamosh - updated : 06/28/2024
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Cassandra L. Kniffin - updated : 1/19/2010<br>Cassandra L. Kniffin - updated : 10/2/2009
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Creation Date:
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Cassandra L. Kniffin : 3/14/2003
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 06/28/2024
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carol : 09/26/2019<br>carol : 07/18/2017<br>carol : 06/13/2016<br>alopez : 1/28/2010<br>ckniffin : 1/19/2010<br>carol : 10/6/2009<br>ckniffin : 10/2/2009<br>carol : 4/9/2003<br>ckniffin : 3/20/2003
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<h3>
<span class="mim-font">
<strong>#</strong> 607628
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<h3>
<span class="mim-font">
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11
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Other entities represented in this entry:
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<span class="h3 mim-font">
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8, INCLUDED; EJM8, INCLUDED
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EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED; EJA2, INCLUDED
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<span class="mim-text-font">
<strong>ORPHA:</strong> 307; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
Location
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<th>
Phenotype
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<th>
Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
3q27.1
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<td>
<span class="mim-font">
{Epilepsy, idiopathic generalized, susceptibility to, 11}
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<span class="mim-font">
607628
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<span class="mim-font">
Autosomal dominant
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<span class="mim-font">
3
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<span class="mim-font">
CLCN2
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</td>
<td>
<span class="mim-font">
600570
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<span class="mim-font">
3q27.1
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<td>
<span class="mim-font">
{Epilepsy, juvenile absence, susceptibility to, 2}
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<span class="mim-font">
607628
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<td>
<span class="mim-font">
Autosomal dominant
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<span class="mim-font">
3
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<span class="mim-font">
CLCN2
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<span class="mim-font">
600570
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<span class="mim-font">
3q27.1
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<td>
<span class="mim-font">
{Epilepsy, juvenile myoclonic, susceptibility to, 8}
</span>
</td>
<td>
<span class="mim-font">
607628
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
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<td>
<span class="mim-font">
3
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<span class="mim-font">
CLCN2
</span>
</td>
<td>
<span class="mim-font">
600570
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</tr>
</tbody>
</table>
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<span class="mim-font">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because some evidence has suggested that susceptibility to idiopathic generalized epilepsy-11 (EIG11), juvenile myoclonic epilepsy-8 (EJM8), and juvenile absence epilepsy-2 (EJA2) may be conferred by variation in the chloride channel-2 gene (CLCN2; 600570) on chromosome 3q27. However, there has been some controversy over whether variation in the CLCN2 gene has a role in epilepsy (see MOLECULAR GENETICS).</p>
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<span class="mim-font">
<strong>Description</strong>
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<p>Both juvenile myoclonic epilepsy and juvenile absence epilepsy are subtypes of idiopathic generalized epilepsy (EIG).</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of these disorders, see EIG1 (600669), EJM1 (254770), and EJA1 (607631).</p>
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<div>
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<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
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<span class="mim-text-font">
<p>Sander et al. (2000) used nonparametric multipoint linkage analysis to identify susceptibility loci among 130 IGE-multiplex families ascertained through a proband with childhood or juvenile absence epilepsy or juvenile myoclonic epilepsy, and 1 or more sibs affected by an IGE trait. They obtained evidence for a novel IGE susceptibility locus on chromosome 3q26 with a peak nonparametric linkage (NPL) score of 4.19 at D3S3725 (p = 0.000017). </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
<p>In 2 sibs with juvenile absence epilepsy found by Sander et al. (2000) to be linked to chromosome 3q26, Haug et al. (2003) identified a heterozygous mutation in the CLCN2 gene (G715E; 600570.0003). Another sib with generalized spike-wave discharges on EEG also carried the mutation. The father, who also carried the mutation, reportedly had unclassified seizures in childhood, but his severe alcoholism as an adult rendered his disease status uncertain. Functional studies of the mutant channel showed normal current amplitudes, but altered voltage-dependent gating, potentially leading to hyperexcitability. The family structure, diagnosis, and mutation status were confirmed by Kleefuss-Lie et al. (2009). The mutation was not observed in 4,700 German control individuals. </p><p>In 3 of 46 unrelated families with IGE localized to 3q26 (including some of the families reported by Sander et al. (2000)), Haug et al. (2003) identified 3 mutations in the CLCN2 gene (600570.0001-600570.0003). In a reevaluation of 2 of the families, 1 with juvenile myoclonic epilepsy and 1 with childhood absence epilepsy (Haug et al., 2003), Kleefuss-Lie et al. (2009) found discrepancies in the family structure, phenotype, and genetic analysis. On this basis, all but one of the original authors retracted the paper. </p><p>Niemeyer et al. (2010) disagreed with the conclusion by Kleefuss-Lie et al. (2009) that some of the work by Haug et al. (2003) had merit. Based on lack of functional consequences of the variants reported by Haug et al. (2003) (600570.0001-600570.0003), Niemeyer et al. (2010) asserted that there is no evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. </p><p>In 2 sibs of Tunisian origin with juvenile myoclonic epilepsy, Saint-Martin et al. (2009) identified a heterozygous mutation in the CLCN2 gene (R235Q; 600570.0004). Another sib with JME was not available for genetic analysis. The mutation was not observed in 263 control individuals from North Africa or 183 French controls. Saint-Martin et al. (2009) identified a different heterozygous mutation in the CLCN2 gene (R577Q; 600570.0005) in 2 German sibs with idiopathic generalized epilepsy. The mutation was not observed in 203 German controls or 183 French controls. In both families, the unaffected father also had the mutation, suggesting either reduced penetrance or that additional unidentified factors are necessary for full phenotypic expression. </p><p>Heyne et al. (2019) found identical frequencies of ultrarare CLCN2 variants in 6,994 individuals with neurodevelopmental disorder with epilepsy compared with controls. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>'ECA3' was previously used to designate the locus on 3q26 for childhood absence epilepsy; this had since been removed because the paper was retracted (Haug et al., 2003). </p>
</span>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<li>
<p class="mim-text-font">
Haug, K., Warnstedt, M., Alekov, A. K., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J., Horvath, S., Hallmann, K., and 13 others.
<strong>Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.</strong>
Nature Genet. 33: 527-532, 2003. Note: Retraction: Nature Genet. 41: 1043 only, 2009.
[PubMed: 12612585]
[Full Text: https://doi.org/10.1038/ng1121]
</p>
</li>
<li>
<p class="mim-text-font">
Heyne, H. O., Artomov, M., Battke, F., Bianchini, C., Smith, D. R., Liebmann, N., Tadigotla, V., Stanley, C. M., Lal, D., Rehm, H., Lerche, H., Daly, M. J., Helbig, I., Biskup, S., Weber, Y. G., Lemke, J. R.
<strong>Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.</strong>
Genet. Med. 21: 2496-2503, 2019.
[PubMed: 31056551]
[Full Text: https://doi.org/10.1038/s41436-019-0531-0]
</p>
</li>
<li>
<p class="mim-text-font">
Kleefuss-Lie, A., Friedl, W., Cichon, S., Haug, K., Warnstedt, M., Alekov, A., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., and 15 others.
<strong>CLCN2 variants in idiopathic generalized epilepsy. (Letter)</strong>
Nature Genet. 41: 954-955, 2009.
[PubMed: 19710712]
[Full Text: https://doi.org/10.1038/ng0909-954]
</p>
</li>
<li>
<p class="mim-text-font">
Niemeyer, M. I., Cid, L. P., Sepulveda, F. V., Blanz, J., Auberson, M., Jentsch, T. J.
<strong>No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy. (Letter)</strong>
Nature Genet. 42: 3 only, 2010.
[PubMed: 20037607]
[Full Text: https://doi.org/10.1038/ng0110-3]
</p>
</li>
<li>
<p class="mim-text-font">
Saint-Martin, C., Gauvain, G., Teodorescu, G., Gourfinkel-An, I., Fedirko, E., Weber, Y. G., Maljevic, S., Ernst, J.-P., Garcia-Olivares, J., Fahlke, C., Nabbout, R., LeGuern, E., Lerche, H., Poncer, J. C., Depienne, C.
<strong>Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.</strong>
Hum. Mutat. 30: 397-405, 2009.
[PubMed: 19191339]
[Full Text: https://doi.org/10.1002/humu.20876]
</p>
</li>
<li>
<p class="mim-text-font">
Sander, T., Schulz, H., Saar, K., Gennaro, E., Riggio, M. C., Bianchi, A., Zara, F., Luna, D., Bulteau, C., Kaminska, A., Ville, D., Cieuta, C., and 14 others.
<strong>Genome search for susceptibility loci of common idiopathic generalised epilepsies.</strong>
Hum. Molec. Genet. 9: 1465-1472, 2000.
[PubMed: 10888596]
[Full Text: https://doi.org/10.1093/hmg/9.10.1465]
</p>
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Ada Hamosh - updated : 06/28/2024<br>Cassandra L. Kniffin - updated : 1/19/2010<br>Cassandra L. Kniffin - updated : 10/2/2009
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carol : 06/28/2024<br>carol : 09/26/2019<br>carol : 07/18/2017<br>carol : 06/13/2016<br>alopez : 1/28/2010<br>ckniffin : 1/19/2010<br>carol : 10/6/2009<br>ckniffin : 10/2/2009<br>carol : 4/9/2003<br>ckniffin : 3/20/2003
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