2196 lines
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Entry
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- #605021 - MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME
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- OMIM
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<p>
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<span class="h4">#605021</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/605021"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=MYOCLONIC EPILEPSY, FAMILIAL INFANTILE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=22082&Typ=Pat" title="Familial infantile myoclonic epilepsy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial infantile myoclon… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=22083&Typ=Pat" title="Focal epilepsy-intellectual disability-cerebro-cerebellar malformation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Focal epilepsy-intellectua… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK274566/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8939" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605021[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352582" title="Familial infantile myoclonic epilepsy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial infantile myoclon…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=352587" title="Focal epilepsy-intellectual disability-cerebro-cerebellar malformation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Focal epilepsy-intellectua…</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 784342008<br />
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<strong>ORPHA:</strong> 352582, 352587<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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605021
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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EIM
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/16/108?start=-3&limit=10&highlight=108">
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16p13.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Myoclonic epilepsy, infantile, familial
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/605021"> 605021 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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TBC1D24
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613577"> 613577 </a>
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</span>
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</td>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/605021" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/605021" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/605021" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- 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 />
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Delayed motor and speech development, mild (1 family) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276354</a>]</span><br /> -
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Myoclonic seizures, frequent, long-lasting (many hours) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857959&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857959</a>]</span><br /> -
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Focal seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29753000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29753000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751495&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751495</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007359" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007359</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007359" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007359</a>]</span><br /> -
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Febrile seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R56.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R56.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R56.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R56.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009952&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009952</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002373" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002373</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002373" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002373</a>]</span><br /> -
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Generalized tonic-clonic seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1217136003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1217136003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G40.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G40.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0494475&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0494475</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002069</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025190" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025190</a>]</span><br /> -
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Ictal EEG with bisynchronous spike waves <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857960</a>]</span><br /> -
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Intellectual disabilities (in 1 family) <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> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
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Ataxia, (1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span><br /> -
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Dysarthria, mild (1 family) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549475&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549475</a>]</span> <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">[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 /> -
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Brain MRI shows abnormal cortical thickening in the anteromesial frontal areas (1 family) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276358</a>]</span><br />
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Two unrelated families have been reported (as of October 2010)<br /> -
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Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
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Age of onset 2-8 months<br /> -
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One family had normal cognitive and neurologic development<br /> -
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A second family had mild intellectual disability<br /> -
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Some patients have persistence of seizures to adulthood, but then show remission<br /> -
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Good response to medication <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1137679005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1137679005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5545424&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5545424</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, <a href="/entry/613577#0001">613577.0001</a>)<br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because familial infantile myoclonic epilepsy is caused by homozygous or compound heterozygous mutation in the TBC1D24 gene (<a href="/entry/613577">613577</a>) on chromosome 16p13.</p><p>Mutation in the TBC1D24 gene can also cause developmental and epileptic encephalopathy-16 (DEE16; <a href="/entry/615338">615338</a>), a more severe disorder.</p>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p><a href="#4" class="mim-tip-reference" title="Zara, F., Gennaro, E., Stabile, M., Carbone, I., Malacarne, M., Majello, L., Santangelo, R., Antonio de Falco, F., Bricarelli, F. D. <strong>Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.</strong> Am. J. Hum. Genet. 66: 1552-1557, 2000. Note: Erratum: Am. J. Hum. Genet. 66: 1728 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10741954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10741954</a>] [<a href="https://doi.org/10.1086/302876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10741954">Zara et al. (2000)</a> studied a large Italian pedigree segregating a recessive idiopathic myoclonic epilepsy that started in early infancy and manifest as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. There was a favorable response to antiepileptic medication, and intellectual and neurologic development was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10741954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Corbett, M. A., Bahlo, M., Jolly, L., Afawi, Z., Gardner, A. E., Oliver, K. L., Tan, S., Coffey, A., Mulley, J. C., Dibbens, L. M., Simri, W., Shalata, A., Kivity, S., Jackson, G. D., Berkovic, S. F., Gecz, J. <strong>A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.</strong> Am. J. Hum. Genet. 87: 371-375, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797691</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797691[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797691">Corbett et al. (2010)</a> reported a consanguineous Arab family from northern Israel with early-onset seizures and intellectual disability. Affected individuals had focal seizures with prominent eye blinking and facial and limb jerking beginning around 2 months of age. Generalized convulsive seizures also occurred. The disorder persisted throughout life but could be controlled by antiepileptic medication. Some children had mildly delayed early motor and speech development, and as adults, they showed borderline to moderate intellectual disability associated with mild dysarthria and ataxia. Brain MRI suggested abnormal cortical thickening most obvious in the anteromesial frontal areas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797691" 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="Afawi, Z., Mandelstam, S., Korczyn, A. D., Kivity, S., Walid, S., Shalata, A., Oliver, K. L., Corbett, M., Gecz, J., Berkovic, S. F., Jackson, G. D. <strong>TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.</strong> Epilepsy Res. 105: 240-244, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23517570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23517570</a>] [<a href="https://doi.org/10.1016/j.eplepsyres.2013.02.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23517570">Afawi et al. (2013)</a> reported the clinical and neuroradiologic features of 4 of the Arab sibs with early-onset seizures and intellectual disability reported by <a href="#2" class="mim-tip-reference" title="Corbett, M. A., Bahlo, M., Jolly, L., Afawi, Z., Gardner, A. E., Oliver, K. L., Tan, S., Coffey, A., Mulley, J. C., Dibbens, L. M., Simri, W., Shalata, A., Kivity, S., Jackson, G. D., Berkovic, S. F., Gecz, J. <strong>A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.</strong> Am. J. Hum. Genet. 87: 371-375, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797691</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797691[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797691">Corbett et al. (2010)</a>. The patients ranged in age from 23 to 40 years. All had onset of eye blinking or twitching at 2 months of age and had seizures throughout life, with variably good response to medication. The seizures tended to be focal, with a perirolandic or perisylvian origin; convulsive seizures occurred infrequently. All had delayed psychomotor development, and 2 were unable to run. Additional features included cerebellar signs such as dysarthria, clumsiness, and abnormal gait. Interictal EEG showed mild slowing of background rhythms. Brain MRI of 2 patients showed atrophy of the cerebellar ansiform lobule with signal abnormalities in the cortical and subcortical white matter. There was also cerebral cortical thickening and blurring of the gray/white matter interface. One patient had right hippocampal sclerosis. <a href="#1" class="mim-tip-reference" title="Afawi, Z., Mandelstam, S., Korczyn, A. D., Kivity, S., Walid, S., Shalata, A., Oliver, K. L., Corbett, M., Gecz, J., Berkovic, S. F., Jackson, G. D. <strong>TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.</strong> Epilepsy Res. 105: 240-244, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23517570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23517570</a>] [<a href="https://doi.org/10.1016/j.eplepsyres.2013.02.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23517570">Afawi et al. (2013)</a> noted that the phenotype in this Arab family differed from that reported by <a href="#4" class="mim-tip-reference" title="Zara, F., Gennaro, E., Stabile, M., Carbone, I., Malacarne, M., Majello, L., Santangelo, R., Antonio de Falco, F., Bricarelli, F. D. <strong>Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.</strong> Am. J. Hum. Genet. 66: 1552-1557, 2000. Note: Erratum: Am. J. Hum. Genet. 66: 1728 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10741954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10741954</a>] [<a href="https://doi.org/10.1086/302876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10741954">Zara et al. (2000)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10741954+23517570+20797691" 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 analysis, <a href="#4" class="mim-tip-reference" title="Zara, F., Gennaro, E., Stabile, M., Carbone, I., Malacarne, M., Majello, L., Santangelo, R., Antonio de Falco, F., Bricarelli, F. D. <strong>Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.</strong> Am. J. Hum. Genet. 66: 1552-1557, 2000. Note: Erratum: Am. J. Hum. Genet. 66: 1728 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10741954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10741954</a>] [<a href="https://doi.org/10.1086/302876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10741954">Zara et al. (2000)</a> mapped the disease locus to chromosome 16p13, with a maximum lod score of 4.48 for marker D16S3027 at a recombination fraction of 0.0. Haplotype analysis placed the critical region within a 3.4-cM interval between D16S3024 and D16S423. <a href="#4" class="mim-tip-reference" title="Zara, F., Gennaro, E., Stabile, M., Carbone, I., Malacarne, M., Majello, L., Santangelo, R., Antonio de Falco, F., Bricarelli, F. D. <strong>Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.</strong> Am. J. Hum. Genet. 66: 1552-1557, 2000. Note: Erratum: Am. J. Hum. Genet. 66: 1728 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10741954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10741954</a>] [<a href="https://doi.org/10.1086/302876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10741954">Zara et al. (2000)</a> stated that this was the first report of an idiopathic epilepsy inherited as an autosomal recessive trait. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10741954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of epilepsy in the families reported by <a href="#4" class="mim-tip-reference" title="Zara, F., Gennaro, E., Stabile, M., Carbone, I., Malacarne, M., Majello, L., Santangelo, R., Antonio de Falco, F., Bricarelli, F. D. <strong>Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.</strong> Am. J. Hum. Genet. 66: 1552-1557, 2000. Note: Erratum: Am. J. Hum. Genet. 66: 1728 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10741954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10741954</a>] [<a href="https://doi.org/10.1086/302876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10741954">Zara et al. (2000)</a> and <a href="#2" class="mim-tip-reference" title="Corbett, M. A., Bahlo, M., Jolly, L., Afawi, Z., Gardner, A. E., Oliver, K. L., Tan, S., Coffey, A., Mulley, J. C., Dibbens, L. M., Simri, W., Shalata, A., Kivity, S., Jackson, G. D., Berkovic, S. F., Gecz, J. <strong>A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.</strong> Am. J. Hum. Genet. 87: 371-375, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797691</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797691[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797691">Corbett et al. (2010)</a> indicated autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10741954+20797691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of a large Italian family with infantile myoclonic epilepsy mapping to chromosome 16p13.3 (<a href="#4" class="mim-tip-reference" title="Zara, F., Gennaro, E., Stabile, M., Carbone, I., Malacarne, M., Majello, L., Santangelo, R., Antonio de Falco, F., Bricarelli, F. D. <strong>Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.</strong> Am. J. Hum. Genet. 66: 1552-1557, 2000. Note: Erratum: Am. J. Hum. Genet. 66: 1728 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10741954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10741954</a>] [<a href="https://doi.org/10.1086/302876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10741954">Zara et al., 2000</a>), <a href="#3" class="mim-tip-reference" title="Falace, A., Filipello, F., La Padula, V., Vanni, N., Madia, F., De Pietri Tonelli, D., de Falco, F. A., Striano, P., Dagna Bricarelli, F., Minetti, C., Benfenati, F., Fassio, A., Zara, F. <strong>TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.</strong> Am. J. Hum. Genet. 87: 365-370, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20727515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20727515</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20727515[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.07.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20727515">Falace et al. (2010)</a> identified compound heterozygosity for 2 mutations in the TBC1D24 gene (<a href="/entry/613577#0001">613577.0001</a> and <a href="/entry/613577#0002">613577.0002</a>) that were shown to decrease protein function. The identification of these mutations suggested involvement of the ARF6 (<a href="/entry/600464">600464</a>)-dependent molecular pathway in the generation of brain hyperexcitability and seizures. The findings also suggested a critical role for TBC1D24 in developmentally regulated events essential for the morphologic and functional maturation of neuronal circuitry, disruption of which likely plays a role in the etiology of epileptic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10741954+20727515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By genomewide linkage analysis followed by candidate gene sequencing of a large consanguineous Arab family with seizures and intellectual disability, <a href="#2" class="mim-tip-reference" title="Corbett, M. A., Bahlo, M., Jolly, L., Afawi, Z., Gardner, A. E., Oliver, K. L., Tan, S., Coffey, A., Mulley, J. C., Dibbens, L. M., Simri, W., Shalata, A., Kivity, S., Jackson, G. D., Berkovic, S. F., Gecz, J. <strong>A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.</strong> Am. J. Hum. Genet. 87: 371-375, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797691</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797691[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.08.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20797691">Corbett et al. (2010)</a> found linkage to chromosome 16p13 and identified a homozygous loss-of-function mutation in the TBC1D24 gene (F251L; <a href="/entry/613577#0003">613577.0003</a>). The findings suggested that TBC1D24 plays an important role in normal human brain development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20797691" 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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Afawi, Z., Mandelstam, S., Korczyn, A. D., Kivity, S., Walid, S., Shalata, A., Oliver, K. L., Corbett, M., Gecz, J., Berkovic, S. F., Jackson, G. D.
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Epilepsy Res. 105: 240-244, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23517570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23517570</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23517570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Corbett, M. A., Bahlo, M., Jolly, L., Afawi, Z., Gardner, A. E., Oliver, K. L., Tan, S., Coffey, A., Mulley, J. C., Dibbens, L. M., Simri, W., Shalata, A., Kivity, S., Jackson, G. D., Berkovic, S. F., Gecz, J.
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<strong>A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.</strong>
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Am. J. Hum. Genet. 87: 371-375, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20797691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20797691</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20797691[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=20797691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Falace, A., Filipello, F., La Padula, V., Vanni, N., Madia, F., De Pietri Tonelli, D., de Falco, F. A., Striano, P., Dagna Bricarelli, F., Minetti, C., Benfenati, F., Fassio, A., Zara, F.
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<strong>TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.</strong>
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Am. J. Hum. Genet. 87: 365-370, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20727515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20727515</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20727515[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=20727515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.07.020" target="_blank">Full Text</a>]
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Zara, F., Gennaro, E., Stabile, M., Carbone, I., Malacarne, M., Majello, L., Santangelo, R., Antonio de Falco, F., Bricarelli, F. D.
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<strong>Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.</strong>
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Am. J. Hum. Genet. 66: 1552-1557, 2000. Note: Erratum: Am. J. Hum. Genet. 66: 1728 only, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10741954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10741954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10741954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302876" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/25/2013
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/20/2010
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<span class="mim-text-font">
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Victor A. McKusick : 5/26/2000
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carol : 12/04/2020
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carol : 10/03/2016<br>carol : 07/26/2013<br>ckniffin : 7/25/2013<br>wwang : 10/25/2010<br>ckniffin : 10/20/2010<br>ckniffin : 6/17/2010<br>ckniffin : 10/2/2009<br>mgross : 3/19/2004<br>mcapotos : 12/21/2001<br>mgross : 5/26/2000
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<strong>#</strong> 605021
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MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME
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EIM
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<strong>SNOMEDCT:</strong> 784342008;
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<strong>ORPHA:</strong> 352582, 352587;
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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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16p13.3
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Myoclonic epilepsy, infantile, familial
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605021
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Autosomal recessive
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3
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TBC1D24
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613577
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because familial infantile myoclonic epilepsy is caused by homozygous or compound heterozygous mutation in the TBC1D24 gene (613577) on chromosome 16p13.</p><p>Mutation in the TBC1D24 gene can also cause developmental and epileptic encephalopathy-16 (DEE16; 615338), a more severe disorder.</p>
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<strong>Clinical Features</strong>
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<p>Zara et al. (2000) studied a large Italian pedigree segregating a recessive idiopathic myoclonic epilepsy that started in early infancy and manifest as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. There was a favorable response to antiepileptic medication, and intellectual and neurologic development was normal. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Corbett et al. (2010) reported a consanguineous Arab family from northern Israel with early-onset seizures and intellectual disability. Affected individuals had focal seizures with prominent eye blinking and facial and limb jerking beginning around 2 months of age. Generalized convulsive seizures also occurred. The disorder persisted throughout life but could be controlled by antiepileptic medication. Some children had mildly delayed early motor and speech development, and as adults, they showed borderline to moderate intellectual disability associated with mild dysarthria and ataxia. Brain MRI suggested abnormal cortical thickening most obvious in the anteromesial frontal areas. </p><p>Afawi et al. (2013) reported the clinical and neuroradiologic features of 4 of the Arab sibs with early-onset seizures and intellectual disability reported by Corbett et al. (2010). The patients ranged in age from 23 to 40 years. All had onset of eye blinking or twitching at 2 months of age and had seizures throughout life, with variably good response to medication. The seizures tended to be focal, with a perirolandic or perisylvian origin; convulsive seizures occurred infrequently. All had delayed psychomotor development, and 2 were unable to run. Additional features included cerebellar signs such as dysarthria, clumsiness, and abnormal gait. Interictal EEG showed mild slowing of background rhythms. Brain MRI of 2 patients showed atrophy of the cerebellar ansiform lobule with signal abnormalities in the cortical and subcortical white matter. There was also cerebral cortical thickening and blurring of the gray/white matter interface. One patient had right hippocampal sclerosis. Afawi et al. (2013) noted that the phenotype in this Arab family differed from that reported by Zara et al. (2000). </p>
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<strong>Mapping</strong>
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<p>By linkage analysis, Zara et al. (2000) mapped the disease locus to chromosome 16p13, with a maximum lod score of 4.48 for marker D16S3027 at a recombination fraction of 0.0. Haplotype analysis placed the critical region within a 3.4-cM interval between D16S3024 and D16S423. Zara et al. (2000) stated that this was the first report of an idiopathic epilepsy inherited as an autosomal recessive trait. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of epilepsy in the families reported by Zara et al. (2000) and Corbett et al. (2010) indicated autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of a large Italian family with infantile myoclonic epilepsy mapping to chromosome 16p13.3 (Zara et al., 2000), Falace et al. (2010) identified compound heterozygosity for 2 mutations in the TBC1D24 gene (613577.0001 and 613577.0002) that were shown to decrease protein function. The identification of these mutations suggested involvement of the ARF6 (600464)-dependent molecular pathway in the generation of brain hyperexcitability and seizures. The findings also suggested a critical role for TBC1D24 in developmentally regulated events essential for the morphologic and functional maturation of neuronal circuitry, disruption of which likely plays a role in the etiology of epileptic disorders. </p><p>By genomewide linkage analysis followed by candidate gene sequencing of a large consanguineous Arab family with seizures and intellectual disability, Corbett et al. (2010) found linkage to chromosome 16p13 and identified a homozygous loss-of-function mutation in the TBC1D24 gene (F251L; 613577.0003). The findings suggested that TBC1D24 plays an important role in normal human brain development. </p>
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<strong>REFERENCES</strong>
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Afawi, Z., Mandelstam, S., Korczyn, A. D., Kivity, S., Walid, S., Shalata, A., Oliver, K. L., Corbett, M., Gecz, J., Berkovic, S. F., Jackson, G. D.
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<strong>TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.</strong>
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Epilepsy Res. 105: 240-244, 2013.
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[PubMed: 23517570]
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[Full Text: https://doi.org/10.1016/j.eplepsyres.2013.02.005]
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Corbett, M. A., Bahlo, M., Jolly, L., Afawi, Z., Gardner, A. E., Oliver, K. L., Tan, S., Coffey, A., Mulley, J. C., Dibbens, L. M., Simri, W., Shalata, A., Kivity, S., Jackson, G. D., Berkovic, S. F., Gecz, J.
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<strong>A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.</strong>
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Am. J. Hum. Genet. 87: 371-375, 2010.
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[PubMed: 20797691]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.08.001]
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Falace, A., Filipello, F., La Padula, V., Vanni, N., Madia, F., De Pietri Tonelli, D., de Falco, F. A., Striano, P., Dagna Bricarelli, F., Minetti, C., Benfenati, F., Fassio, A., Zara, F.
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<strong>TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.</strong>
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Am. J. Hum. Genet. 87: 365-370, 2010.
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[PubMed: 20727515]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.07.020]
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Zara, F., Gennaro, E., Stabile, M., Carbone, I., Malacarne, M., Majello, L., Santangelo, R., Antonio de Falco, F., Bricarelli, F. D.
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<strong>Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.</strong>
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Am. J. Hum. Genet. 66: 1552-1557, 2000. Note: Erratum: Am. J. Hum. Genet. 66: 1728 only, 2000.
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[PubMed: 10741954]
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[Full Text: https://doi.org/10.1086/302876]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/25/2013<br>Cassandra L. Kniffin - updated : 10/20/2010
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Creation Date:
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