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<title>
Entry
- #611726 - EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3
- OMIM
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<span class="h4">#611726</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/611726"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS256730,PS254800"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH WITHOUT INTRACELLULAR INCLUSIONS) OR (KCTD7)" 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=20066&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>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611726[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>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=263516" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel 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 id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0111446" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/611726" 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>
<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>SNOMEDCT:</strong> 783064000<br />
<strong>ORPHA:</strong> 263516<br />
<strong>DO:</strong> 0111446<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
611726
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CEROID LIPOFUSCINOSIS, NEURONAL, 14; CLN14
</span>
</h4>
</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/7/301?start=-3&limit=10&highlight=301">
7q11.21
</a>
</span>
</td>
<td>
<span class="mim-font">
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611726"> 611726 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
KCTD7
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611725"> 611725 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/611726" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS256730,PS254800" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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&nbsp;
<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>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/611726" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/611726" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly (in 1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Visual loss (in 1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H54.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H54.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/369.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">369.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3665346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665346</a>, <a href="https://bioportal.bioontology.org/search?q=C3665386&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3665386</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</a>]</span><br /> -
Optic atrophy, mild (in 1 patient) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552473&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552473</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br />
</span>
</div>
</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">
- Myoclonic seizures <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4317123&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317123</a>, <a href="https://bioportal.bioontology.org/search?q=C0014550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014550</a> 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> <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 /> -
Secondary generalization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674108&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674108</a>]</span><br /> -
Initial normal development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673258&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673258</a>]</span><br /> -
Neurologic regression following seizure onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673259&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673259</a>]</span><br /> -
Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
Limited expressive language <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673260</a>]</span><br /> -
Truncal ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/250067008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">250067008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427190</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002078</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002078</a>]</span><br /> -
Loss of motor function <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864672&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864672</a>]</span><br /> -
EEG shows slowed dysrhythmia and multifocal discharges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673261&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673261</a>]</span><br /> -
Cerebral atrophy (in 1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
Cerebellar atrophy (in 1 family) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span><br /> -
Thinning of the corpus callosum (in 1 family) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5441562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033725</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Granular osmiophilic cytoplasmic deposits ultrastructurally in cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552474&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552474</a>]</span><br /> -
'Fingerprint profiles' ultrastructurally in cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836851&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836851</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003208" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003208</a>]</span><br /> -
'Rectilinear profiles' ultrastructurally in cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552475&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552475</a>]</span><br />
</span>
</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">
- Onset before age 2 years<br /> -
Two unrelated families have been reported (last curated July 2012)<br /> -
Only 1 family had ultrastructural cellular findings of neuronal ceroid lipofuscinosis<br /> -
Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
Severe phenotype <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8116006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8116006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/363778006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">363778006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0031437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031437</a>, <a href="https://bioportal.bioontology.org/search?q=C1285572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1285572</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the potassium channel tetramerisation domain containing 7 gene (KCTD7, <a href="/entry/611725#0001">611725.0001</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>
Ceroid lipofuscinoses
- <a href="/phenotypicSeries/PS256730">PS256730</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/1/484?start=-3&limit=10&highlight=484"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/256730"> Ceroid lipofuscinosis, neuronal, 1 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/256730"> 256730 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600722"> PPT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600722"> 600722 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/548?start=-3&limit=10&highlight=548"> 4q28.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610951"> Ceroid lipofuscinosis, neuronal, 7 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610951"> 610951 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611124"> MFSD8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611124"> 611124 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/301?start=-3&limit=10&highlight=301"> 7q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611726"> Epilepsy, progressive myoclonic 3, with or without intracellular inclusions </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611726"> 611726 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611725"> KCTD7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611725"> 611725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/9?start=-3&limit=10&highlight=9"> 8p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600143"> Ceroid lipofuscinosis, neuronal, 8 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600143"> 600143 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607837"> CLN8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607837"> 607837 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/9?start=-3&limit=10&highlight=9"> 8p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610003"> Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610003"> 610003 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607837"> CLN8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607837"> 607837 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/63?start=-3&limit=10&highlight=63"> 11p15.5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610127"> Ceroid lipofuscinosis, neuronal, 10 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610127"> 610127 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116840"> CTSD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/116840"> 116840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/136?start=-3&limit=10&highlight=136"> 11p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/204500"> Ceroid lipofuscinosis, neuronal, 2 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/204500"> 204500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607998"> TPP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607998"> 607998 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/641?start=-3&limit=10&highlight=641"> 11q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615362"> Ceroid lipofuscinosis, neuronal, 13 (Kufs type) </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615362"> 615362 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603539"> CTSF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603539"> 603539 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/231?start=-3&limit=10&highlight=231"> 13q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/256731"> Ceroid lipofuscinosis, neuronal, 5 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/256731"> 256731 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608102"> CLN5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608102"> 608102 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/326?start=-3&limit=10&highlight=326"> 15q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/204300"> Ceroid lipofuscinosis, neuronal, 6B (Kufs type) </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/204300"> 204300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606725"> CLN6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606725"> 606725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/326?start=-3&limit=10&highlight=326"> 15q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601780"> Ceroid lipofuscinosis, neuronal, 6A </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601780"> 601780 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606725"> CLN6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606725"> 606725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/301?start=-3&limit=10&highlight=301"> 16p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/204200"> Ceroid lipofuscinosis, neuronal, 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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/204200"> 204200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607042"> CLN3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607042"> 607042 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/638?start=-3&limit=10&highlight=638"> 17q21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614706"> Ceroid lipofuscinosis, neuronal, 11 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614706"> 614706 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138945"> GRN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138945"> 138945 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/487?start=-3&limit=10&highlight=487"> 20q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162350"> Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant </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/162350"> 162350 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611203"> DNAJC5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611203"> 611203 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Not Mapped
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609055"> Ceroid lipofuscinosis, neuronal, 9 </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">
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609055"> 609055 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609055"> CLN9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609055"> 609055 </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, progressive myoclonic
- <a href="/phenotypicSeries/PS254800">PS254800</a>
- 13 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/4/340?start=-3&limit=10&highlight=340"> 4q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254900"> Epilepsy, progressive myoclonic 4, with or without renal failure </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254900"> 254900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602257"> SCARB2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602257"> 602257 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/357?start=-3&limit=10&highlight=357"> 4q21.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616640"> ?Epilepsy, progressive myoclonic, 10 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616640"> 616640 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616639"> PRDM8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616639"> 616639 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/96?start=-3&limit=10&highlight=96"> 6p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620681"> Myoclonic epilepsy of Lafora 2 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620681"> 620681 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608072"> NHLRC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608072"> 608072 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/925?start=-3&limit=10&highlight=925"> 6q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254780"> Myoclonic epilepsy of Lafora 1 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254780"> 254780 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607566"> EPM2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607566"> 607566 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/301?start=-3&limit=10&highlight=301"> 7q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611726"> Epilepsy, progressive myoclonic 3, with or without intracellular inclusions </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611726"> 611726 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611725"> KCTD7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611725"> 611725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/213?start=-3&limit=10&highlight=213"> 11p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616187"> Epilepsy, progressive myoclonic 7 </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/616187"> 616187 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176258"> KCNC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176258"> 176258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/298?start=-3&limit=10&highlight=298"> 12q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612437"> Epilepsy, progressive myoclonic 1B </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612437"> 612437 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608500"> PRICKLE1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608500"> 608500 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/576?start=-3&limit=10&highlight=576"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619191"> Epilepsy, progressive myoclonic, 12 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619191"> 619191 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619192"> SLC7A6OS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619192"> 619192 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/671?start=-3&limit=10&highlight=671"> 17q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614018"> Epilepsy, progressive myoclonic 6 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614018"> 614018 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604027"> GOSR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604027"> 604027 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/89?start=-3&limit=10&highlight=89"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616540"> ?Epilepsy, progressive myoclonic, 9 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616540"> 616540 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150341"> LMNB2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150341"> 150341 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/142?start=-3&limit=10&highlight=142"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618876"> Epilepsy, progressive myoclonic, 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/618876"> 618876 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608873"> SEMA6B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608873"> 608873 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/475?start=-3&limit=10&highlight=475"> 19p13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616230"> Epilepsy, progressive myoclonic, 8 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616230"> 616230 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606919"> CERS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606919"> 606919 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/149?start=-3&limit=10&highlight=149"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254800"> Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254800"> 254800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601145"> CSTB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601145"> 601145 </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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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because progressive myoclonic epilepsy-3 with or without intracellular inclusions (EPM3) is caused by homozygous or compound heterozygous mutation in the KCTD7 gene (<a href="/entry/611725">611725</a>) on chromosome 7q11.</p>
</span>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Description</strong>
</span>
</h4>
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<p>Mutations in the KCTD7 gene cause a severe neurodegenerative phenotype characterized by onset of intractable myoclonic seizures before age 2 years and accompanied by developmental regression. The initial description was consistent with a form of progressive myoclonic epilepsy (designated here as EPM3), whereas a later report identified intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis (designated CLN14). Ultrastructural findings on skin biopsies thus appear to be variable. However, clinical features are generally consistent between reports (summary by <a href="#3" class="mim-tip-reference" title="Staropoli, J. F., Karaa, A., Lim, E. T., Kirby, A., Elbalalesy, N., Romansky, S. G., Leydiker, K. B., Coppel, S. H., Barone, R., Xin, W., Macdonald, M. E., Abdenur, J. E., Daly, M. J., Sims, K. B., Cotman, S. L. &lt;strong&gt;A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.&lt;/strong&gt; Am. J. Hum. Genet. 91: 202-208, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22748208/&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;22748208&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22748208[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.05.023&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="22748208">Staropoli et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22748208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (<a href="/entry/256730">256730</a>).</p>
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<p><a href="#4" class="mim-tip-reference" title="Van Bogaert, P., Azizieh, R., Desir, J., Aeby, A., De Meirleir, L., Laes, J.-F., Christiaens, F., Abramowicz, M. J. &lt;strong&gt;Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.&lt;/strong&gt; Ann. Neurol. 61: 579-586, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17455289/&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;17455289&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21121&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="17455289">Van Bogaert et al. (2007)</a> reported a consanguineous Moroccan family in which 3 members had early-onset progressive myoclonic epilepsy. Multifocal myoclonic seizures began between 16 and 24 months of age after normal initial development. Two patients had secondary generalization. Neurodegeneration and regression occurred with seizure onset. Other features included mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. One patient had several episodes of myoclonic status epilepticus and developed permanent myoclonus affecting the face, tongue, and limbs. Two patients showed transient neurologic improvement when the epilepsy was controlled. EEG showed slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges, and photosensitivity. Ultrastructural analysis of a skin biopsy was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17455289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Staropoli, J. F., Karaa, A., Lim, E. T., Kirby, A., Elbalalesy, N., Romansky, S. G., Leydiker, K. B., Coppel, S. H., Barone, R., Xin, W., Macdonald, M. E., Abdenur, J. E., Daly, M. J., Sims, K. B., Cotman, S. L. &lt;strong&gt;A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.&lt;/strong&gt; Am. J. Hum. Genet. 91: 202-208, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22748208/&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;22748208&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22748208[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.05.023&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="22748208">Staropoli et al. (2012)</a> reported 2 Mexican sibs with onset of severe intractable myoclonic seizures at ages 9 and 8 months, respectively, after normal development. Myoclonic movements involved mainly the face and extremities, and were often precipitated or worsened by fevers. Normal development occurred until about 18 months of age, at which point motor and speech regression were noted. At ages 12 and 10 years, both sibs had microcephaly, were nonverbal, and were without spontaneous motor function. Neither showed a response to visual threat and both had diminished pupillary light reflexes; 1 also had bilateral optic atrophy without retinopathy. Brain imaging showed global cortical and cerebellar atrophy and thinning of the corpus callosum. Skin biopsy of 1 patient showed CLN-type storage material in fibroblasts, neurons, and eccrine secretory epithelial cells. Electron microscopy of lymphocytes showed lysosomal storage material containing fingerprint-like profiles and granular osmiophilic deposits. The axon of a myelinated nerve contained vacuole-bound rectilinear profiles. Immunoblot analysis of lymphocytes showed increased levels of mitochondrial ATP synthase subunit C in fingerprint, rectilinear, and curvilinear storage profiles, similar to that observed in CLN3 (<a href="/entry/204200">204200</a>). Both sibs died from complications of progressive disease in their mid-teens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22748208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E. &lt;strong&gt;Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.&lt;/strong&gt; J. Med. Genet. 49: 391-399, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22693283/&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;22693283&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22693283[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2012-100859&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="22693283">Kousi et al. (2012)</a> reported 9 patients from 6 unrelated Turkish families and 1 Pakistani family with EPM3. Three of the families were consanguineous. All patients were alive at the time of the study and were between 3.2 and 14 years of age. The mean age at presentation was 19 months, and most presented with myoclonic and/or tonic-clonic seizures. One patient presented with ataxia. Six of the 9 patients had a favorable response to antiepileptic drug treatment with multiple agents. Psychomotor decline, including ataxia, became evident soon after onset of seizures and resulted in severe motor and mental retardation. Some patients developed scoliosis. All patients had abnormal EEG findings in various brain regions. None had retinal findings, and none of the patients tested had evidence of neuronal ceroid lipofuscinosis on skin biopsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693283" 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="Mastrangelo, M., Sartori, S., Simonati, A., Brinciotti, M., Moro, F., Nosadini, M., Pezzini, F., Doccini, S., Santorelli, F. M., Leuzzi, V. &lt;strong&gt;Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: the multifaceted phenotypic spectrum of KCTD7-related disorders.&lt;/strong&gt; Europ. J. Med. Genet. 62: 103591, 2019. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30500434/&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;30500434&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2018.11.025&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="30500434">Mastrangelo et al. (2019)</a> reported 2 patients, a 17-year-old Italian girl (patient 1) and a 7-year-old Pakistani girl (patient 2), with EPM3. Patient 1 presented at 10 months of age with action myoclonus and developed epilepsy resembling epilepsia partialis continua at 2 years of age. She had progressive motor and verbal deterioration as well as drug-resistant epilepsy and recurrent status epilepticus. Brain MRI at ages 4, 7, and 10 years were normal, but mild frontoinsular atrophy was seen on brain MRI at age 11 years. There were no ultrastructural features of neuronal ceroid lipofuscinosis on a skin biopsy. Patient 2 presented with failure to thrive, neurologic regression, and slowing of head growth at 8 months of age. At 13 months of age, she had epileptic and nonepileptic myoclonic jerks and severe generalized hypotonia. Brain MRI at age 15 months showed anterior white matter atrophy. At age 7 years, she had absent speech, axial hypotonia, and tetraparesis with limb spasticity. Ultrastructural examination of a skin biopsy showed lysosomal storage material consistent with neuronal ceroid lipofuscinosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30500434" 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>By linkage mapping, <a href="#4" class="mim-tip-reference" title="Van Bogaert, P., Azizieh, R., Desir, J., Aeby, A., De Meirleir, L., Laes, J.-F., Christiaens, F., Abramowicz, M. J. &lt;strong&gt;Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.&lt;/strong&gt; Ann. Neurol. 61: 579-586, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17455289/&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;17455289&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21121&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="17455289">Van Bogaert et al. (2007)</a> identified a locus for EPM3 on chromosome 7q11.2 (maximum multipoint lod score of 4.0 at D7S663). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17455289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a consanguineous Moroccan family with progressive myoclonic epilepsy, <a href="#4" class="mim-tip-reference" title="Van Bogaert, P., Azizieh, R., Desir, J., Aeby, A., De Meirleir, L., Laes, J.-F., Christiaens, F., Abramowicz, M. J. &lt;strong&gt;Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.&lt;/strong&gt; Ann. Neurol. 61: 579-586, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17455289/&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;17455289&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21121&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="17455289">Van Bogaert et al. (2007)</a> identified a homozygous mutation in the KCTD7 gene (R99X; <a href="/entry/611725#0001">611725.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17455289" 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 Mexican sibs with progressive myoclonic epilepsy and pathologic findings of neuronal ceroid lipofuscinosis in multiple cell types, <a href="#3" class="mim-tip-reference" title="Staropoli, J. F., Karaa, A., Lim, E. T., Kirby, A., Elbalalesy, N., Romansky, S. G., Leydiker, K. B., Coppel, S. H., Barone, R., Xin, W., Macdonald, M. E., Abdenur, J. E., Daly, M. J., Sims, K. B., Cotman, S. L. &lt;strong&gt;A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.&lt;/strong&gt; Am. J. Hum. Genet. 91: 202-208, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22748208/&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;22748208&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22748208[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.05.023&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="22748208">Staropoli et al. (2012)</a> identified a homozygous mutation in the KCTD7 gene (R184C; <a href="/entry/611725#0002">611725.0002</a>). The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. KCTD7 mutations were not found in 32 additional CLN samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22748208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 7 unrelated families with progressive myoclonic epilepsy-3, <a href="#1" class="mim-tip-reference" title="Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E. &lt;strong&gt;Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.&lt;/strong&gt; J. Med. Genet. 49: 391-399, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22693283/&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;22693283&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22693283[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2012-100859&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="22693283">Kousi et al. (2012)</a> identified 6 different mutations in the KCTD7 gene (see, e.g., <a href="/entry/611725#0003">611725.0003</a>-<a href="/entry/611725#0007">611725.0007</a>). All mutations were in the homozygous or compound heterozygous state. The initial mutations were found in 2 probands by homozygosity mapping followed by candidate gene sequencing, and the other mutations were found by screening of the gene in 108 Turkish patients and 1 Pakistani patient with the phenotype. Four mutations were missense, 1 was an in-frame deletion, and 1 was truncating. None of 22 additional patients with neuronal ceroid lipofuscinosis carried mutations in the KCTD7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 17-year-old Italian patient and a 7-year-old Pakistani patient with EPM3, <a href="#2" class="mim-tip-reference" title="Mastrangelo, M., Sartori, S., Simonati, A., Brinciotti, M., Moro, F., Nosadini, M., Pezzini, F., Doccini, S., Santorelli, F. M., Leuzzi, V. &lt;strong&gt;Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: the multifaceted phenotypic spectrum of KCTD7-related disorders.&lt;/strong&gt; Europ. J. Med. Genet. 62: 103591, 2019. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30500434/&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;30500434&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2018.11.025&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="30500434">Mastrangelo et al. (2019)</a> identified homozygous missense mutations in the KCTD7 gene (A178V, <a href="/entry/611725#0008">611725.0008</a> and G58R, <a href="/entry/617725#0009">617725.0009</a>, respectively). The mutations were identified by next-generation sequencing of a panel of 95 genes associated with early-onset epilepsies. The mutation segregated with the phenotype in both families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30500434" 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="Kousi2012" class="mim-anchor"></a>
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Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E.
<strong>Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.</strong>
J. Med. Genet. 49: 391-399, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693283[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmedgenet-2012-100859" target="_blank">Full Text</a>]
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<a id="Mastrangelo2019" class="mim-anchor"></a>
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Mastrangelo, M., Sartori, S., Simonati, A., Brinciotti, M., Moro, F., Nosadini, M., Pezzini, F., Doccini, S., Santorelli, F. M., Leuzzi, V.
<strong>Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: the multifaceted phenotypic spectrum of KCTD7-related disorders.</strong>
Europ. J. Med. Genet. 62: 103591, 2019. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30500434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30500434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30500434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ejmg.2018.11.025" target="_blank">Full Text</a>]
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<a id="Staropoli2012" class="mim-anchor"></a>
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Staropoli, J. F., Karaa, A., Lim, E. T., Kirby, A., Elbalalesy, N., Romansky, S. G., Leydiker, K. B., Coppel, S. H., Barone, R., Xin, W., Macdonald, M. E., Abdenur, J. E., Daly, M. J., Sims, K. B., Cotman, S. L.
<strong>A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.</strong>
Am. J. Hum. Genet. 91: 202-208, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22748208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22748208</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22748208[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22748208" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2012.05.023" target="_blank">Full Text</a>]
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<a id="Van Bogaert2007" class="mim-anchor"></a>
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Van Bogaert, P., Azizieh, R., Desir, J., Aeby, A., De Meirleir, L., Laes, J.-F., Christiaens, F., Abramowicz, M. J.
<strong>Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.</strong>
Ann. Neurol. 61: 579-586, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17455289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17455289</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17455289" 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/ana.21121" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 03/01/2024
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Cassandra L. Kniffin - updated : 8/22/2012<br>Cassandra L. Kniffin - updated : 7/31/2012
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Cassandra L. Kniffin : 1/15/2008
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carol : 03/01/2024
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carol : 02/29/2024<br>carol : 01/20/2015<br>carol : 8/22/2012<br>ckniffin : 8/22/2012<br>carol : 8/2/2012<br>ckniffin : 7/31/2012<br>wwang : 6/13/2011<br>wwang : 1/31/2008<br>ckniffin : 1/16/2008
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<strong>#</strong> 611726
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EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3
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<em>Alternative titles; symbols</em>
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CEROID LIPOFUSCINOSIS, NEURONAL, 14; CLN14
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<strong>SNOMEDCT:</strong> 783064000; &nbsp;
<strong>ORPHA:</strong> 263516; &nbsp;
<strong>DO:</strong> 0111446; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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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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7q11.21
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Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
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611726
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Autosomal recessive
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3
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KCTD7
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611725
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because progressive myoclonic epilepsy-3 with or without intracellular inclusions (EPM3) is caused by homozygous or compound heterozygous mutation in the KCTD7 gene (611725) on chromosome 7q11.</p>
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<strong>Description</strong>
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<p>Mutations in the KCTD7 gene cause a severe neurodegenerative phenotype characterized by onset of intractable myoclonic seizures before age 2 years and accompanied by developmental regression. The initial description was consistent with a form of progressive myoclonic epilepsy (designated here as EPM3), whereas a later report identified intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis (designated CLN14). Ultrastructural findings on skin biopsies thus appear to be variable. However, clinical features are generally consistent between reports (summary by Staropoli et al., 2012). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730).</p>
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<strong>Clinical Features</strong>
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<p>Van Bogaert et al. (2007) reported a consanguineous Moroccan family in which 3 members had early-onset progressive myoclonic epilepsy. Multifocal myoclonic seizures began between 16 and 24 months of age after normal initial development. Two patients had secondary generalization. Neurodegeneration and regression occurred with seizure onset. Other features included mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. One patient had several episodes of myoclonic status epilepticus and developed permanent myoclonus affecting the face, tongue, and limbs. Two patients showed transient neurologic improvement when the epilepsy was controlled. EEG showed slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges, and photosensitivity. Ultrastructural analysis of a skin biopsy was normal. </p><p>Staropoli et al. (2012) reported 2 Mexican sibs with onset of severe intractable myoclonic seizures at ages 9 and 8 months, respectively, after normal development. Myoclonic movements involved mainly the face and extremities, and were often precipitated or worsened by fevers. Normal development occurred until about 18 months of age, at which point motor and speech regression were noted. At ages 12 and 10 years, both sibs had microcephaly, were nonverbal, and were without spontaneous motor function. Neither showed a response to visual threat and both had diminished pupillary light reflexes; 1 also had bilateral optic atrophy without retinopathy. Brain imaging showed global cortical and cerebellar atrophy and thinning of the corpus callosum. Skin biopsy of 1 patient showed CLN-type storage material in fibroblasts, neurons, and eccrine secretory epithelial cells. Electron microscopy of lymphocytes showed lysosomal storage material containing fingerprint-like profiles and granular osmiophilic deposits. The axon of a myelinated nerve contained vacuole-bound rectilinear profiles. Immunoblot analysis of lymphocytes showed increased levels of mitochondrial ATP synthase subunit C in fingerprint, rectilinear, and curvilinear storage profiles, similar to that observed in CLN3 (204200). Both sibs died from complications of progressive disease in their mid-teens. </p><p>Kousi et al. (2012) reported 9 patients from 6 unrelated Turkish families and 1 Pakistani family with EPM3. Three of the families were consanguineous. All patients were alive at the time of the study and were between 3.2 and 14 years of age. The mean age at presentation was 19 months, and most presented with myoclonic and/or tonic-clonic seizures. One patient presented with ataxia. Six of the 9 patients had a favorable response to antiepileptic drug treatment with multiple agents. Psychomotor decline, including ataxia, became evident soon after onset of seizures and resulted in severe motor and mental retardation. Some patients developed scoliosis. All patients had abnormal EEG findings in various brain regions. None had retinal findings, and none of the patients tested had evidence of neuronal ceroid lipofuscinosis on skin biopsy. </p><p>Mastrangelo et al. (2019) reported 2 patients, a 17-year-old Italian girl (patient 1) and a 7-year-old Pakistani girl (patient 2), with EPM3. Patient 1 presented at 10 months of age with action myoclonus and developed epilepsy resembling epilepsia partialis continua at 2 years of age. She had progressive motor and verbal deterioration as well as drug-resistant epilepsy and recurrent status epilepticus. Brain MRI at ages 4, 7, and 10 years were normal, but mild frontoinsular atrophy was seen on brain MRI at age 11 years. There were no ultrastructural features of neuronal ceroid lipofuscinosis on a skin biopsy. Patient 2 presented with failure to thrive, neurologic regression, and slowing of head growth at 8 months of age. At 13 months of age, she had epileptic and nonepileptic myoclonic jerks and severe generalized hypotonia. Brain MRI at age 15 months showed anterior white matter atrophy. At age 7 years, she had absent speech, axial hypotonia, and tetraparesis with limb spasticity. Ultrastructural examination of a skin biopsy showed lysosomal storage material consistent with neuronal ceroid lipofuscinosis. </p>
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<strong>Mapping</strong>
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<p>By linkage mapping, Van Bogaert et al. (2007) identified a locus for EPM3 on chromosome 7q11.2 (maximum multipoint lod score of 4.0 at D7S663). </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a consanguineous Moroccan family with progressive myoclonic epilepsy, Van Bogaert et al. (2007) identified a homozygous mutation in the KCTD7 gene (R99X; 611725.0001). </p><p>In 2 Mexican sibs with progressive myoclonic epilepsy and pathologic findings of neuronal ceroid lipofuscinosis in multiple cell types, Staropoli et al. (2012) identified a homozygous mutation in the KCTD7 gene (R184C; 611725.0002). The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. KCTD7 mutations were not found in 32 additional CLN samples. </p><p>In affected members of 7 unrelated families with progressive myoclonic epilepsy-3, Kousi et al. (2012) identified 6 different mutations in the KCTD7 gene (see, e.g., 611725.0003-611725.0007). All mutations were in the homozygous or compound heterozygous state. The initial mutations were found in 2 probands by homozygosity mapping followed by candidate gene sequencing, and the other mutations were found by screening of the gene in 108 Turkish patients and 1 Pakistani patient with the phenotype. Four mutations were missense, 1 was an in-frame deletion, and 1 was truncating. None of 22 additional patients with neuronal ceroid lipofuscinosis carried mutations in the KCTD7 gene. </p><p>In a 17-year-old Italian patient and a 7-year-old Pakistani patient with EPM3, Mastrangelo et al. (2019) identified homozygous missense mutations in the KCTD7 gene (A178V, 611725.0008 and G58R, 617725.0009, respectively). The mutations were identified by next-generation sequencing of a panel of 95 genes associated with early-onset epilepsies. The mutation segregated with the phenotype in both families. </p>
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topcu, M., Gokben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O., Lehesjoki, A.-E.
<strong>Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.</strong>
J. Med. Genet. 49: 391-399, 2012.
[PubMed: 22693283]
[Full Text: https://doi.org/10.1136/jmedgenet-2012-100859]
</p>
</li>
<li>
<p class="mim-text-font">
Mastrangelo, M., Sartori, S., Simonati, A., Brinciotti, M., Moro, F., Nosadini, M., Pezzini, F., Doccini, S., Santorelli, F. M., Leuzzi, V.
<strong>Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: the multifaceted phenotypic spectrum of KCTD7-related disorders.</strong>
Europ. J. Med. Genet. 62: 103591, 2019. Note: Electronic Article.
[PubMed: 30500434]
[Full Text: https://doi.org/10.1016/j.ejmg.2018.11.025]
</p>
</li>
<li>
<p class="mim-text-font">
Staropoli, J. F., Karaa, A., Lim, E. T., Kirby, A., Elbalalesy, N., Romansky, S. G., Leydiker, K. B., Coppel, S. H., Barone, R., Xin, W., Macdonald, M. E., Abdenur, J. E., Daly, M. J., Sims, K. B., Cotman, S. L.
<strong>A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.</strong>
Am. J. Hum. Genet. 91: 202-208, 2012.
[PubMed: 22748208]
[Full Text: https://doi.org/10.1016/j.ajhg.2012.05.023]
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</li>
<li>
<p class="mim-text-font">
Van Bogaert, P., Azizieh, R., Desir, J., Aeby, A., De Meirleir, L., Laes, J.-F., Christiaens, F., Abramowicz, M. J.
<strong>Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.</strong>
Ann. Neurol. 61: 579-586, 2007.
[PubMed: 17455289]
[Full Text: https://doi.org/10.1002/ana.21121]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Hilary J. Vernon - updated : 03/01/2024<br>Cassandra L. Kniffin - updated : 8/22/2012<br>Cassandra L. Kniffin - updated : 7/31/2012
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Creation Date:
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Cassandra L. Kniffin : 1/15/2008
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Edit History:
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carol : 03/01/2024<br>carol : 02/29/2024<br>carol : 01/20/2015<br>carol : 8/22/2012<br>ckniffin : 8/22/2012<br>carol : 8/2/2012<br>ckniffin : 7/31/2012<br>wwang : 6/13/2011<br>wwang : 1/31/2008<br>ckniffin : 1/16/2008
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