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Entry
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- #608105 - EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP; EPRPDC
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- OMIM
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<p>
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<span class="h4">#608105</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/608105"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-row">
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17533&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/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/2607" 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=608105[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163727" 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 style="display: table-row">
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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111645" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/608105" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111645" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<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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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1231737000<br />
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<strong>ORPHA:</strong> 163727<br />
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<strong>DO:</strong> 0111645<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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608105
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP; EPRPDC
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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RE-PED-WC
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</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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Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp
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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/608105"> 608105 </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 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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<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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</tr>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/608105" 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')">
|
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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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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/608105" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/608105" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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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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|
|
- 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>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> HEAD & NECK </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Abnormal facial movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012961&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012961</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nystagmus, horizontal <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81756001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81756001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000666" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000666</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000666" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000666</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
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|
|
</div>
|
|
|
|
</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Seizures, focal, partial, often hemifacial <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232668&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232668</a>]</span><br /> -
|
|
Seizures, generalized, may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842533</a>]</span><br /> -
|
|
Paroxysmal dystonia, exercise-induced <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/724072002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">724072002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842534</a>]</span><br /> -
|
|
Writer's cramp <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191744004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191744004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52008007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52008007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338902&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338902</a>, <a href="https://bioportal.bioontology.org/search?q=C0154676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0154676</a>, <a href="https://bioportal.bioontology.org/search?q=C4316810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4316810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002356" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002356</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002356" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002356</a>]</span><br /> -
|
|
Difficulty with fine motor skills <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232669&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232669</a>]</span><br /> -
|
|
Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</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 /> -
|
|
Nystagmus, horizontal <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81756001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81756001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000666" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000666</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000666" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000666</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span><br /> -
|
|
Myoclonic jerks <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17450006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17450006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027066</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001336</a>]</span><br /> -
|
|
Rolandic sharp waves and spikes seen on EEG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232670</a>]</span><br /> -
|
|
Prolonged somatosensory evoked potentials (SEPs) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842536&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842536</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007104</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in infancy (1-2 years) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span><br /> -
|
|
Seizures and dystonia peak during childhood<br /> -
|
|
Seizures tend to remit with age<br /> -
|
|
Features may be exacerbated by fatigue or stress<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
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</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, <a href="/entry/613577#0015">613577.0015</a>)<br />
|
|
|
|
</span>
|
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</div>
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</div>
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<p>A number sign (#) is used with this entry because of evidence that rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is caused by compound heterozygous mutation in the TBC1D24 gene (<a href="/entry/613577">613577</a>) on chromosome 16p13.</p>
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<p>Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is an autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Features usually include involuntary movements, including facial movements, and difficulties with fine motor skills of the hand. Seizures often respond to medication and remit with age; the dystonia tends to persist (summary by <a href="#2" class="mim-tip-reference" title="Luthy, K., Mei, D., Fischer, B., De Fusco, M., Swerts, J., Paesmans, J., Parrini, E., Lubarr, N., Meijer, I. A., Mackenzie, K. M., Lee, W.-T., Cittaro, D., Aridon, P., Schoovaerts, N., Versees, W., Verstreken, P., Casari, G., Guerrini, R. <strong>TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.</strong> Brain 142: 2319-2335, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31257402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31257402</a>] [<a href="https://doi.org/10.1093/brain/awz175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31257402">Luthy et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31257402" 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 3 members from the same generation of a consanguineous Italian family, <a href="#1" class="mim-tip-reference" title="Guerrini, R., Bonanni, P., Nardocci, N., Parmeggiani, L., Piccirilli, M., De Fusco, M., Aridon, P., Ballabio, A., Carrozzo, R., Casari, G. <strong>Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.</strong> Ann. Neurol. 45: 344-352, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072049</a>] [<a href="https://doi.org/10.1002/1531-8249(199903)45:3<344::aid-ana10>3.0.co;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10072049">Guerrini et al. (1999)</a> described a syndrome comprising rolandic epilepsy (RE; see <a href="/entry/117100">117100</a>), paroxysmal exercise-induced dystonia (PED), and writer's cramp (WC). Onset was in infancy, with partial seizures that were often hemifacial, and paroxysmal dystonia of the neck, trunk, or limbs associated with exercise. Both the seizures and the paroxysmal dystonia had an age-related expression that peaked during childhood. Horizontal nystagmus was also present. EEG showed rolandic sharp waves or spikes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10072049" 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="Luthy, K., Mei, D., Fischer, B., De Fusco, M., Swerts, J., Paesmans, J., Parrini, E., Lubarr, N., Meijer, I. A., Mackenzie, K. M., Lee, W.-T., Cittaro, D., Aridon, P., Schoovaerts, N., Versees, W., Verstreken, P., Casari, G., Guerrini, R. <strong>TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.</strong> Brain 142: 2319-2335, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31257402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31257402</a>] [<a href="https://doi.org/10.1093/brain/awz175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31257402">Luthy et al. (2019)</a> provided follow-up of the Italian patients reported by <a href="#1" class="mim-tip-reference" title="Guerrini, R., Bonanni, P., Nardocci, N., Parmeggiani, L., Piccirilli, M., De Fusco, M., Aridon, P., Ballabio, A., Carrozzo, R., Casari, G. <strong>Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.</strong> Ann. Neurol. 45: 344-352, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072049</a>] [<a href="https://doi.org/10.1002/1531-8249(199903)45:3<344::aid-ana10>3.0.co;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10072049">Guerrini et al. (1999)</a>, who were 31, 42, and 43 at the time of the second report. Focal motor seizures never reoccurred after ages 16, 18, and 22 under treatment with carbamazepine or oxcarbazepine; however, exercise-induced dystonia was still present in 2 of the patients, although the frequency of episodes had decreased. All 3 patients still had nystagmus and postural tremor of the hands. Brain imaging was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31257402+10072049" 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="Luthy, K., Mei, D., Fischer, B., De Fusco, M., Swerts, J., Paesmans, J., Parrini, E., Lubarr, N., Meijer, I. A., Mackenzie, K. M., Lee, W.-T., Cittaro, D., Aridon, P., Schoovaerts, N., Versees, W., Verstreken, P., Casari, G., Guerrini, R. <strong>TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.</strong> Brain 142: 2319-2335, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31257402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31257402</a>] [<a href="https://doi.org/10.1093/brain/awz175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31257402">Luthy et al. (2019)</a> also identified 3 unrelated patients with a similar disorder. They had onset of focal motor seizures, consistent with rolandic seizures, in the first year of life, followed by onset of exercise-induced dystonia between 2 and 4 years of age. Features included clonic or myoclonic jerks of the hands and face, drooling, dysarthria, dysphagia, difficulty with fine motor movements of the hands, and involuntary movements. Symptoms were often exacerbated by fatigue, fever, or excitement. EEG in 2 patients showed frontotemporal focal discharges. Seizures remitted by age 9 years in 1 patient, but still occurred at ages 8 and 13 years in the other 2 patients. Two patients had postural hand tremor; all had normal brain imaging. Two of the patients were of Han Chinese descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31257402" 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 EPRPDC in the family reported by <a href="#1" class="mim-tip-reference" title="Guerrini, R., Bonanni, P., Nardocci, N., Parmeggiani, L., Piccirilli, M., De Fusco, M., Aridon, P., Ballabio, A., Carrozzo, R., Casari, G. <strong>Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.</strong> Ann. Neurol. 45: 344-352, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072049</a>] [<a href="https://doi.org/10.1002/1531-8249(199903)45:3<344::aid-ana10>3.0.co;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10072049">Guerrini et al. (1999)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10072049" 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 a family with RE-PED-WC, <a href="#1" class="mim-tip-reference" title="Guerrini, R., Bonanni, P., Nardocci, N., Parmeggiani, L., Piccirilli, M., De Fusco, M., Aridon, P., Ballabio, A., Carrozzo, R., Casari, G. <strong>Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.</strong> Ann. Neurol. 45: 344-352, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072049</a>] [<a href="https://doi.org/10.1002/1531-8249(199903)45:3<344::aid-ana10>3.0.co;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10072049">Guerrini et al. (1999)</a> found linkage to a 6-cM region on chromosome 16p12-p11.2 between markers D16S3133 and D16S3131 (maximum lod score of 3.68). The authors noted that the disorder showed phenotypic similarities to autosomal dominant infantile convulsions and paroxysmal choreoathetosis syndrome (ICCA; <a href="/entry/602066">602066</a>), which had been mapped to the same region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10072049" 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 3 members of a consanguineous Italian family with EPRPDC, <a href="#2" class="mim-tip-reference" title="Luthy, K., Mei, D., Fischer, B., De Fusco, M., Swerts, J., Paesmans, J., Parrini, E., Lubarr, N., Meijer, I. A., Mackenzie, K. M., Lee, W.-T., Cittaro, D., Aridon, P., Schoovaerts, N., Versees, W., Verstreken, P., Casari, G., Guerrini, R. <strong>TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.</strong> Brain 142: 2319-2335, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31257402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31257402</a>] [<a href="https://doi.org/10.1093/brain/awz175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31257402">Luthy et al. (2019)</a> identified compound heterozygous missense mutations in the TBC1D24 gene (G501R, <a href="/entry/613577#0015">613577.0015</a> and R360H, <a href="/entry/613577#0016">613577.0016</a>). The mutations, which were found by sequencing of the critical region identified by linkage analysis (<a href="#1" class="mim-tip-reference" title="Guerrini, R., Bonanni, P., Nardocci, N., Parmeggiani, L., Piccirilli, M., De Fusco, M., Aridon, P., Ballabio, A., Carrozzo, R., Casari, G. <strong>Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.</strong> Ann. Neurol. 45: 344-352, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10072049/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10072049</a>] [<a href="https://doi.org/10.1002/1531-8249(199903)45:3<344::aid-ana10>3.0.co;2-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10072049">Guerrini et al., 1999</a>), segregated with the disorder in the family. Three additional patients, including 2 unrelated patients of Han Chinese origin, with sporadic occurrence of the disorder were found to carry compound heterozygous mutations (see, e.g., <a href="/entry/613577#0017">613577.0017</a> and <a href="/entry/613577#0018">613577.0018</a>) through whole-exome sequencing. All the patients had biallelic mutations that could be described as hypomorphic mutations affecting the TBC domain, which is important for the regulation of vesicular membrane trafficking at synapses, or a mutation with a mild effect on protein function (R360H), coupled with missense mutations that severely affect the TLDc domain, which is the catalytic domain and thought to be involved in oxidative stress resistance. Studies of patient cells were not performed, but detailed structural analysis predicted that the mutations may have variable destabilizing effects on the protein. In vivo studies in Drosophila demonstrated that the G501R TLDc mutation caused activity-induced locomotion and synaptic vesicle trafficking defects, while R360H was comparatively benign. The neuronal phenotypes of the G501R mutation were consistent with exacerbated oxidative stress sensitivity, which could be rescued by treatment with antioxidants that restored synaptic vesicle trafficking levels and sustained behavioral activity. The authors suggested that the TBC1D24 TLDc domain is a reactive oxygen species sensor mediating synaptic vesicle trafficking rates that, when dysfunctional, causes a movement disorder in patients and flies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31257402+10072049" 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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Luthy, K., Mei, D., Fischer, B., De Fusco, M., Swerts, J., Paesmans, J., Parrini, E., Lubarr, N., Meijer, I. A., Mackenzie, K. M., Lee, W.-T., Cittaro, D., Aridon, P., Schoovaerts, N., Versees, W., Verstreken, P., Casari, G., Guerrini, R.
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<strong>TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.</strong>
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Brain 142: 2319-2335, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31257402/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31257402</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31257402" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awz175" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 08/07/2019
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Cassandra L. Kniffin : 9/22/2003
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alopez : 08/09/2019
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ckniffin : 08/07/2019<br>carol : 06/24/2005<br>ckniffin : 7/28/2004<br>ckniffin : 6/11/2004<br>carol : 9/23/2003<br>ckniffin : 9/22/2003
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<strong>#</strong> 608105
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EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP; EPRPDC
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RE-PED-WC
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<strong>SNOMEDCT:</strong> 1231737000;
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<strong>ORPHA:</strong> 163727;
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<strong>DO:</strong> 0111645;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Phenotype <br /> mapping key
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16p13.3
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Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp
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608105
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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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<p>A number sign (#) is used with this entry because of evidence that rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is caused by compound heterozygous mutation in the TBC1D24 gene (613577) on chromosome 16p13.</p>
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<p>Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (EPRPDC) is an autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Features usually include involuntary movements, including facial movements, and difficulties with fine motor skills of the hand. Seizures often respond to medication and remit with age; the dystonia tends to persist (summary by Luthy et al., 2019). </p>
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<p>In 3 members from the same generation of a consanguineous Italian family, Guerrini et al. (1999) described a syndrome comprising rolandic epilepsy (RE; see 117100), paroxysmal exercise-induced dystonia (PED), and writer's cramp (WC). Onset was in infancy, with partial seizures that were often hemifacial, and paroxysmal dystonia of the neck, trunk, or limbs associated with exercise. Both the seizures and the paroxysmal dystonia had an age-related expression that peaked during childhood. Horizontal nystagmus was also present. EEG showed rolandic sharp waves or spikes. </p><p>Luthy et al. (2019) provided follow-up of the Italian patients reported by Guerrini et al. (1999), who were 31, 42, and 43 at the time of the second report. Focal motor seizures never reoccurred after ages 16, 18, and 22 under treatment with carbamazepine or oxcarbazepine; however, exercise-induced dystonia was still present in 2 of the patients, although the frequency of episodes had decreased. All 3 patients still had nystagmus and postural tremor of the hands. Brain imaging was normal. </p><p>Luthy et al. (2019) also identified 3 unrelated patients with a similar disorder. They had onset of focal motor seizures, consistent with rolandic seizures, in the first year of life, followed by onset of exercise-induced dystonia between 2 and 4 years of age. Features included clonic or myoclonic jerks of the hands and face, drooling, dysarthria, dysphagia, difficulty with fine motor movements of the hands, and involuntary movements. Symptoms were often exacerbated by fatigue, fever, or excitement. EEG in 2 patients showed frontotemporal focal discharges. Seizures remitted by age 9 years in 1 patient, but still occurred at ages 8 and 13 years in the other 2 patients. Two patients had postural hand tremor; all had normal brain imaging. Two of the patients were of Han Chinese descent. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of EPRPDC in the family reported by Guerrini et al. (1999) was consistent with autosomal recessive inheritance. </p>
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<p>In a family with RE-PED-WC, Guerrini et al. (1999) found linkage to a 6-cM region on chromosome 16p12-p11.2 between markers D16S3133 and D16S3131 (maximum lod score of 3.68). The authors noted that the disorder showed phenotypic similarities to autosomal dominant infantile convulsions and paroxysmal choreoathetosis syndrome (ICCA; 602066), which had been mapped to the same region. </p>
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<p>In 3 members of a consanguineous Italian family with EPRPDC, Luthy et al. (2019) identified compound heterozygous missense mutations in the TBC1D24 gene (G501R, 613577.0015 and R360H, 613577.0016). The mutations, which were found by sequencing of the critical region identified by linkage analysis (Guerrini et al., 1999), segregated with the disorder in the family. Three additional patients, including 2 unrelated patients of Han Chinese origin, with sporadic occurrence of the disorder were found to carry compound heterozygous mutations (see, e.g., 613577.0017 and 613577.0018) through whole-exome sequencing. All the patients had biallelic mutations that could be described as hypomorphic mutations affecting the TBC domain, which is important for the regulation of vesicular membrane trafficking at synapses, or a mutation with a mild effect on protein function (R360H), coupled with missense mutations that severely affect the TLDc domain, which is the catalytic domain and thought to be involved in oxidative stress resistance. Studies of patient cells were not performed, but detailed structural analysis predicted that the mutations may have variable destabilizing effects on the protein. In vivo studies in Drosophila demonstrated that the G501R TLDc mutation caused activity-induced locomotion and synaptic vesicle trafficking defects, while R360H was comparatively benign. The neuronal phenotypes of the G501R mutation were consistent with exacerbated oxidative stress sensitivity, which could be rescued by treatment with antioxidants that restored synaptic vesicle trafficking levels and sustained behavioral activity. The authors suggested that the TBC1D24 TLDc domain is a reactive oxygen species sensor mediating synaptic vesicle trafficking rates that, when dysfunctional, causes a movement disorder in patients and flies. </p>
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<strong>REFERENCES</strong>
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Guerrini, R., Bonanni, P., Nardocci, N., Parmeggiani, L., Piccirilli, M., De Fusco, M., Aridon, P., Ballabio, A., Carrozzo, R., Casari, G.
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<strong>Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2.</strong>
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Ann. Neurol. 45: 344-352, 1999.
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[PubMed: 10072049]
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[Full Text: https://doi.org/10.1002/1531-8249(199903)45:3<344::aid-ana10>3.0.co;2-9]
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Luthy, K., Mei, D., Fischer, B., De Fusco, M., Swerts, J., Paesmans, J., Parrini, E., Lubarr, N., Meijer, I. A., Mackenzie, K. M., Lee, W.-T., Cittaro, D., Aridon, P., Schoovaerts, N., Versees, W., Verstreken, P., Casari, G., Guerrini, R.
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<strong>TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.</strong>
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Brain 142: 2319-2335, 2019.
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[PubMed: 31257402]
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[Full Text: https://doi.org/10.1093/brain/awz175]
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Cassandra L. Kniffin - updated : 08/07/2019
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Creation Date:
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Cassandra L. Kniffin : 9/22/2003
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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alopez : 08/09/2019<br>ckniffin : 08/07/2019<br>carol : 06/24/2005<br>ckniffin : 7/28/2004<br>ckniffin : 6/11/2004<br>carol : 9/23/2003<br>ckniffin : 9/22/2003
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
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