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Entry
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- #602066 - CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA
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- OMIM
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<p>
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<span class="h4">#602066</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/602066"><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="#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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<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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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS" 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=9793&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/NBK475803/" 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/3804" 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=602066[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=31709" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
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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> 715534008<br />
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<strong>ORPHA:</strong> 31709<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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602066
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</span>
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</span>
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</div>
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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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CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS, FAMILIAL<br />
|
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ICCA SYNDROME<br />
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PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS; PKD/IC
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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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<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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<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/16/330?start=-3&limit=10&highlight=330">
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16p11.2
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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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Convulsions, familial infantile, with paroxysmal choreoathetosis
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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/602066"> 602066 </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 dominant">AD</abbr>
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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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</td>
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<td>
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<span class="mim-font">
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PRRT2
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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/614386"> 614386 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/602066" 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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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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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/602066" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/602066" 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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<div>
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<p />
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</div>
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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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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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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- Seizures, partial, afebrile <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><br /> -
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Secondary generalization may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843142</a>]</span><br /> -
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Seizures, generalized, afebrile <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843143&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843143</a>]</span><br /> -
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Seizures occur in clusters <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843144</a>]</span><br /> -
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Seizures often begin with head and eye deviation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843145&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843145</a>]</span><br /> -
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Choreoathetosis, paroxysmal <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49949003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49949003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851936&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851936</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007098</a>]</span><br /> -
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Dystonia, paroxysmal <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230310003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230310003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0393588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393588</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002268</a>]</span><br /> -
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Involuntary movements may be precipitated by exertion or anxiety <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865927&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865927</a>]</span><br /> -
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Normal psychomotor development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9908006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9908006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0520948&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0520948</a>]</span><br /> -
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Normal interictal EEG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002372" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002372</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002372" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002372</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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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </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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- Average onset of seizures 6 months (range 3-12)<br /> -
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Seizures easily controlled by medications<br /> -
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Spontaneous resolution of seizures by 12 months of age<br /> -
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Onset of choreoathetosis in childhood or young adult (6-23 years)<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> MOLECULAR BASIS </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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- Caused by mutation in the proline-rich transmembrane protein 2 gene (PRRT2, <a href="/entry/614386#0001">614386.0001</a>).<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 class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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="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>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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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 convulsions with paroxysmal choreoathetosis (ICCA) is caused by heterozygous mutation in the PRRT2 gene (<a href="/entry/614386">614386</a>) on chromosome 16p11.</p>
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</span>
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<div>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Benign familial infantile convulsions (BFIC; see <a href="/entry/601764">601764</a>) is an autosomal dominant disorder characterized by afebrile seizures occurring between 3 and 12 months of age. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli.</p><p>The ICCA syndrome shares overlapping clinical features with benign familial infantile seizures-2 (BFIS2; <a href="/entry/605751">605751</a>) and episodic kinesigenic dyskinesia-1 (EKD1; <a href="/entry/128200">128200</a>), which are allelic disorders.</p><p>See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (<a href="/entry/608105">608105</a>), which maps to 16p.</p>
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<br />
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<div>
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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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</h4>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#6" class="mim-tip-reference" title="Szepetowski, P., Rochette, J., Berquin, P., Piussan, C., Lathrop, G. M., Monaco, A. P. <strong>Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.</strong> Am. J. Hum. Genet. 61: 889-898, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382100</a>] [<a href="https://doi.org/10.1086/514877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382100">Szepetowski et al. (1997)</a> studied 4 families from northwestern France in which benign infantile convulsions was inherited as an autosomal dominant trait together with variably expressed paroxysmal choreoathetosis. The authors suggested that the strong association of the 2 disorders in the same families defined a distinct neurologic syndrome. Partial seizures started with a psychomotor arrest and a deviation of the head and eyes to one side, often with secondary generalization. The seizures responded well to medication and remitted by age 12 months. Paroxysmal choreoathetotic movements were of the dystonic type and occurred at rest or in response to exertion or anxiety. Both seizures and movements occurred in clusters. Interictal EEGs were normal, and all patients showed normal psychomotor development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382100" 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="#5" class="mim-tip-reference" title="Swoboda, K. J., Soong, B.-W., McKenna, C., Brunt, E. R. P., Litt, M., Bale, J. F., Jr., Ashizawa, T., Bennett, L. B., Bowcock, A. M., Roach, E. S., Gerson, D., Matsuura, T., Heydemann, P. T., Nespeca, M. P., Jankovic, J., Leppert, M., Ptacek, L. J. <strong>Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.</strong> Neurology 55: 224-230, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10908896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10908896</a>] [<a href="https://doi.org/10.1212/wnl.55.2.224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10908896">Swoboda et al. (2000)</a> reported 44 individuals from 11 families with infantile convulsions (62% of patients), PKC (86%), or both (50%). Infantile convulsions were common, occurring in 9 of 11 families, and were characterized by onset between 3 and 18 months of age, eye deviation, staring, altered consciousness, apnea, and tonic stiffening. Remission occurred within 3 years. Age at onset for PKC was 6 to 28 years. Episodes were provoked by anxiety or exertion. EEG studies were normal in all patients except one. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10908896" 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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<div>
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<br />
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<a id="mapping" class="mim-anchor"></a>
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p><a href="#6" class="mim-tip-reference" title="Szepetowski, P., Rochette, J., Berquin, P., Piussan, C., Lathrop, G. M., Monaco, A. P. <strong>Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.</strong> Am. J. Hum. Genet. 61: 889-898, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382100</a>] [<a href="https://doi.org/10.1086/514877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9382100">Szepetowski et al. (1997)</a> performed linkage analysis in families with this disorder and found strong evidence of linkage in the pericentromeric region of chromosome 16, with a maximum 2-point lod score for D16S3133 of 6.76 at a recombination fraction of 0.0. Critical recombinants narrowed the region of interest to a 10-cM interval around the centromere, 16p12-q12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Chinese family, <a href="#3" class="mim-tip-reference" title="Lee, W.-L., Tay, A., Ong, H.-T., Goh, L.-M., Monaco, A. P., Szepetowski, P. <strong>Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family.</strong> Hum. Genet. 103: 608-612, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9860304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9860304</a>] [<a href="https://doi.org/10.1007/s004390050876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9860304">Lee et al. (1998)</a> confirmed that the autosomal dominant trait of benign infantile convulsions and paroxysmal choreoathetosis of the dystonic form, the ICCA syndrome, is linked to the 16p12-q12 region. Some patients in this family also exhibited recurrence of epileptic seizures at a much later age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9860304" 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 analyzing 11 unrelated families with infantile convulsions, PKC, or both, <a href="#5" class="mim-tip-reference" title="Swoboda, K. J., Soong, B.-W., McKenna, C., Brunt, E. R. P., Litt, M., Bale, J. F., Jr., Ashizawa, T., Bennett, L. B., Bowcock, A. M., Roach, E. S., Gerson, D., Matsuura, T., Heydemann, P. T., Nespeca, M. P., Jankovic, J., Leppert, M., Ptacek, L. J. <strong>Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.</strong> Neurology 55: 224-230, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10908896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10908896</a>] [<a href="https://doi.org/10.1212/wnl.55.2.224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10908896">Swoboda et al. (2000)</a> defined a 26-cM candidate region between markers D16S3131 and D16S3396 on chromosome 16q (maximum lod score of 6.63 at D16S3131). In conjunction with previous data, the critical region was narrowed to a 3.2-cM region spanning the centromere. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10908896" 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 ICCA in the families reported by <a href="#7" class="mim-tip-reference" title="Wang, J.-L., Cao, L., Li, X.-H., Hu, Z.-M., Li, J.-D., Zhang, J.-G., Liang, Y., San-A, Li, N., Chen, S.-Q., Guo, J.-F., Jiang, H., and 12 others. <strong>Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.</strong> Brain 134: 3493-3501, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22120146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22120146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22120146[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/10.1093/brain/awr289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22120146">Wang et al. (2011)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22120146" 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>Using a combination of exome sequencing and linkage analysis in 2 large Han Chinese families with EKD1 (<a href="/entry/128200">128200</a>), <a href="#7" class="mim-tip-reference" title="Wang, J.-L., Cao, L., Li, X.-H., Hu, Z.-M., Li, J.-D., Zhang, J.-G., Liang, Y., San-A, Li, N., Chen, S.-Q., Guo, J.-F., Jiang, H., and 12 others. <strong>Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.</strong> Brain 134: 3493-3501, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22120146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22120146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22120146[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/10.1093/brain/awr289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22120146">Wang et al. (2011)</a> identified 2 different heterozygous truncating mutations in the PRRT2 gene (649dupC; <a href="/entry/614386#0001">614386.0001</a> and <a href="/entry/614386#0009">614386.0009</a>, respectively) that completely segregated with the phenotype in each family. Two patients in each family also had infantile convulsion and choreoathetosis syndrome, indicating intrafamilial variability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22120146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 (83%) of 6 families with ICCA, <a href="#1" class="mim-tip-reference" title="Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., Pridmore, C., Hodgson, B. L., Iona, X., Sadleir, L. G., Pelekanos, J., Herlenius, E., and 12 others. <strong>PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.</strong> Am. J. Hum. Genet. 90: 152-160, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243967[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.2011.12.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22243967">Heron et al. (2012)</a> identified 1 of 3 different heterozygous mutations in the PRRT2 gene. Three families had the common 649insC mutation (<a href="/entry/614386#0001">614386.0001</a>), and 2 additional families each had a private mutation (<a href="/entry/614386#0004">614386.0004</a> and <a href="/entry/614386#0005">614386.0005</a>). Heterozygous PRRT2 mutations were also found in 14 (82%) of 17 families with benign familial infantile seizures-2 (BFIS2; <a href="/entry/605751">605751</a>). The 649insC mutation was the most common mutation, found in 12 families with BFIS2. The families with this mutation were of different ethnic origin, including Australasian of western European heritage, Swedish, and Israeli Sephardic-Jewish, and there was no evidence of a common haplotype among these families, indicating a mutation hotspot. These findings demonstrated that mutations in PRRT2 cause both epilepsy and a movement disorder, with obvious pleiotropy in age of expression. The mutations were identified by linkage analysis, confirming linkage to chromosome 16p, followed by sequence-capture array of coding and promoter sequences within the candidate region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22243967" 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="Lee, H.-Y., Huang, Y., Bruneau, N., Roll, P., Roberson, E. D. O., Hermann, M., Quinn, E., Maas, J., Edwards, R., Ashizawa, T., Baykan, B., Bhatia, K., and 29 others. <strong>Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.</strong> Cell Rep. 1: 2-12, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22832103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22832103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22832103[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.celrep.2011.11.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22832103">Lee et al. (2012)</a> also identified heterozygous mutations in the PRRT2 gene (see, e.g., <a href="/entry/614386#0007">614386.0007</a> and <a href="/entry/614386#0008">614386.0008</a>) in affected members of families with ICCA. The mutations were identified by whole-genome sequencing of 6 well-characterized families. The findings were confirmed by the identification of PRRT2 mutations in 24 of 25 additional families with the disorder. The 649insC mutation was the most common mutation. Sanger sequencing of a third cohort of 78 probands with a less clear clinical diagnosis found that 10 patients with familial disease and 17 with sporadic disease had the common 649insC mutation; 1 additional patient had a different truncating PRRT2 mutation. None of the pathogenic alleles were found in over 2,500 control chromosomes. There was intrafamilial variability of the phenotype. In vitro functional expression assays showed that the mutant truncating proteins were not expressed and did not exert dominant-negative effect on the wildtype protein, suggesting haploinsufficiency as the pathologic mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22832103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Ono, S., Yoshiura, K., Kinoshita, A., Kikuchi, T., Nakane, Y., Kato, N., Sadamatsu, M., Konishi, T., Nagamitsu, S., Matsuura, M., Yasuda, A., Komine, M., and 10 others. <strong>Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.</strong> J. Hum. Genet. 57: 338-341, 2012. Note: Erratum: J. Hum. Genet. 57: 399 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22399141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22399141</a>] [<a href="https://doi.org/10.1038/jhg.2012.23" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22399141">Ono et al. (2012)</a> identified the 649dupC mutation in 14 of 15 Japanese families with EKD1, some of whom also had ICCA, and in 2 Japanese families with BFIS2. The mutation was shown to occur de novo in at least 1 family, suggesting that it is a mutation hotspot. EKD1, ICCA, and BFIS2 segregated with the mutation even within the same family. The findings indicated that all 3 disorders are allelic and are likely caused by a similar mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22399141" 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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Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., Pridmore, C., Hodgson, B. L., Iona, X., Sadleir, L. G., Pelekanos, J., Herlenius, E., and 12 others.
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<strong>PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.</strong>
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Am. J. Hum. Genet. 90: 152-160, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22243967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22243967</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22243967[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=22243967" 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.2011.12.003" target="_blank">Full Text</a>]
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Lee, H.-Y., Huang, Y., Bruneau, N., Roll, P., Roberson, E. D. O., Hermann, M., Quinn, E., Maas, J., Edwards, R., Ashizawa, T., Baykan, B., Bhatia, K., and 29 others.
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<strong>Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.</strong>
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Cell Rep. 1: 2-12, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22832103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22832103</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22832103[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=22832103" 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.celrep.2011.11.001" target="_blank">Full Text</a>]
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Lee, W.-L., Tay, A., Ong, H.-T., Goh, L.-M., Monaco, A. P., Szepetowski, P.
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<strong>Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family.</strong>
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Hum. Genet. 103: 608-612, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9860304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9860304</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9860304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390050876" target="_blank">Full Text</a>]
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Ono, S., Yoshiura, K., Kinoshita, A., Kikuchi, T., Nakane, Y., Kato, N., Sadamatsu, M., Konishi, T., Nagamitsu, S., Matsuura, M., Yasuda, A., Komine, M., and 10 others.
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<strong>Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.</strong>
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J. Hum. Genet. 57: 338-341, 2012. Note: Erratum: J. Hum. Genet. 57: 399 only, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22399141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22399141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22399141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jhg.2012.23" target="_blank">Full Text</a>]
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Swoboda, K. J., Soong, B.-W., McKenna, C., Brunt, E. R. P., Litt, M., Bale, J. F., Jr., Ashizawa, T., Bennett, L. B., Bowcock, A. M., Roach, E. S., Gerson, D., Matsuura, T., Heydemann, P. T., Nespeca, M. P., Jankovic, J., Leppert, M., Ptacek, L. J.
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<strong>Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.</strong>
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Neurology 55: 224-230, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10908896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10908896</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10908896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.55.2.224" target="_blank">Full Text</a>]
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<a id="Szepetowski1997" class="mim-anchor"></a>
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Szepetowski, P., Rochette, J., Berquin, P., Piussan, C., Lathrop, G. M., Monaco, A. P.
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<strong>Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.</strong>
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Am. J. Hum. Genet. 61: 889-898, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9382100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9382100</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9382100" 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/10.1086/514877" target="_blank">Full Text</a>]
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<a id="Wang2011" class="mim-anchor"></a>
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Wang, J.-L., Cao, L., Li, X.-H., Hu, Z.-M., Li, J.-D., Zhang, J.-G., Liang, Y., San-A, Li, N., Chen, S.-Q., Guo, J.-F., Jiang, H., and 12 others.
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<strong>Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.</strong>
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Brain 134: 3493-3501, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22120146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22120146</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22120146[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=22120146" 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/awr289" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 11/7/2012
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Cassandra L. Kniffin - updated : 4/5/2012<br>Cassandra L. Kniffin - updated : 2/15/2012<br>Cassandra L. Kniffin - updated : 6/23/2004<br>Cassandra L. Kniffin - updated : 6/14/2004<br>Victor A. McKusick - updated : 12/11/1998
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Victor A. McKusick : 10/21/1997
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alopez : 07/13/2021
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carol : 02/06/2014<br>alopez : 12/13/2012<br>carol : 11/7/2012<br>ckniffin : 11/7/2012<br>terry : 4/6/2012<br>carol : 4/6/2012<br>ckniffin : 4/5/2012<br>ckniffin : 4/5/2012<br>carol : 2/21/2012<br>ckniffin : 2/15/2012<br>terry : 1/20/2010<br>carol : 6/23/2004<br>ckniffin : 6/14/2004<br>ckniffin : 6/11/2004<br>mgross : 3/17/2004<br>carol : 12/19/2000<br>carol : 12/15/1998<br>terry : 12/11/1998<br>alopez : 10/27/1997<br>terry : 10/23/1997<br>jenny : 10/21/1997<br>jenny : 10/21/1997
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<strong>#</strong> 602066
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CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA
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INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS, FAMILIAL<br />
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ICCA SYNDROME<br />
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PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS; PKD/IC
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<strong>SNOMEDCT:</strong> 715534008;
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<strong>ORPHA:</strong> 31709;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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16p11.2
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Convulsions, familial infantile, with paroxysmal choreoathetosis
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602066
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Autosomal dominant
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3
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PRRT2
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614386
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<p>A number sign (#) is used with this entry because familial infantile convulsions with paroxysmal choreoathetosis (ICCA) is caused by heterozygous mutation in the PRRT2 gene (614386) on chromosome 16p11.</p>
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<p>Benign familial infantile convulsions (BFIC; see 601764) is an autosomal dominant disorder characterized by afebrile seizures occurring between 3 and 12 months of age. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli.</p><p>The ICCA syndrome shares overlapping clinical features with benign familial infantile seizures-2 (BFIS2; 605751) and episodic kinesigenic dyskinesia-1 (EKD1; 128200), which are allelic disorders.</p><p>See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (608105), which maps to 16p.</p>
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<p>Szepetowski et al. (1997) studied 4 families from northwestern France in which benign infantile convulsions was inherited as an autosomal dominant trait together with variably expressed paroxysmal choreoathetosis. The authors suggested that the strong association of the 2 disorders in the same families defined a distinct neurologic syndrome. Partial seizures started with a psychomotor arrest and a deviation of the head and eyes to one side, often with secondary generalization. The seizures responded well to medication and remitted by age 12 months. Paroxysmal choreoathetotic movements were of the dystonic type and occurred at rest or in response to exertion or anxiety. Both seizures and movements occurred in clusters. Interictal EEGs were normal, and all patients showed normal psychomotor development. </p><p>Swoboda et al. (2000) reported 44 individuals from 11 families with infantile convulsions (62% of patients), PKC (86%), or both (50%). Infantile convulsions were common, occurring in 9 of 11 families, and were characterized by onset between 3 and 18 months of age, eye deviation, staring, altered consciousness, apnea, and tonic stiffening. Remission occurred within 3 years. Age at onset for PKC was 6 to 28 years. Episodes were provoked by anxiety or exertion. EEG studies were normal in all patients except one. </p>
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<strong>Mapping</strong>
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<p>Szepetowski et al. (1997) performed linkage analysis in families with this disorder and found strong evidence of linkage in the pericentromeric region of chromosome 16, with a maximum 2-point lod score for D16S3133 of 6.76 at a recombination fraction of 0.0. Critical recombinants narrowed the region of interest to a 10-cM interval around the centromere, 16p12-q12. </p><p>In a Chinese family, Lee et al. (1998) confirmed that the autosomal dominant trait of benign infantile convulsions and paroxysmal choreoathetosis of the dystonic form, the ICCA syndrome, is linked to the 16p12-q12 region. Some patients in this family also exhibited recurrence of epileptic seizures at a much later age. </p><p>By analyzing 11 unrelated families with infantile convulsions, PKC, or both, Swoboda et al. (2000) defined a 26-cM candidate region between markers D16S3131 and D16S3396 on chromosome 16q (maximum lod score of 6.63 at D16S3131). In conjunction with previous data, the critical region was narrowed to a 3.2-cM region spanning the centromere. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of ICCA in the families reported by Wang et al. (2011) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Using a combination of exome sequencing and linkage analysis in 2 large Han Chinese families with EKD1 (128200), Wang et al. (2011) identified 2 different heterozygous truncating mutations in the PRRT2 gene (649dupC; 614386.0001 and 614386.0009, respectively) that completely segregated with the phenotype in each family. Two patients in each family also had infantile convulsion and choreoathetosis syndrome, indicating intrafamilial variability. </p><p>In 5 (83%) of 6 families with ICCA, Heron et al. (2012) identified 1 of 3 different heterozygous mutations in the PRRT2 gene. Three families had the common 649insC mutation (614386.0001), and 2 additional families each had a private mutation (614386.0004 and 614386.0005). Heterozygous PRRT2 mutations were also found in 14 (82%) of 17 families with benign familial infantile seizures-2 (BFIS2; 605751). The 649insC mutation was the most common mutation, found in 12 families with BFIS2. The families with this mutation were of different ethnic origin, including Australasian of western European heritage, Swedish, and Israeli Sephardic-Jewish, and there was no evidence of a common haplotype among these families, indicating a mutation hotspot. These findings demonstrated that mutations in PRRT2 cause both epilepsy and a movement disorder, with obvious pleiotropy in age of expression. The mutations were identified by linkage analysis, confirming linkage to chromosome 16p, followed by sequence-capture array of coding and promoter sequences within the candidate region. </p><p>Lee et al. (2012) also identified heterozygous mutations in the PRRT2 gene (see, e.g., 614386.0007 and 614386.0008) in affected members of families with ICCA. The mutations were identified by whole-genome sequencing of 6 well-characterized families. The findings were confirmed by the identification of PRRT2 mutations in 24 of 25 additional families with the disorder. The 649insC mutation was the most common mutation. Sanger sequencing of a third cohort of 78 probands with a less clear clinical diagnosis found that 10 patients with familial disease and 17 with sporadic disease had the common 649insC mutation; 1 additional patient had a different truncating PRRT2 mutation. None of the pathogenic alleles were found in over 2,500 control chromosomes. There was intrafamilial variability of the phenotype. In vitro functional expression assays showed that the mutant truncating proteins were not expressed and did not exert dominant-negative effect on the wildtype protein, suggesting haploinsufficiency as the pathologic mechanism. </p><p>Ono et al. (2012) identified the 649dupC mutation in 14 of 15 Japanese families with EKD1, some of whom also had ICCA, and in 2 Japanese families with BFIS2. The mutation was shown to occur de novo in at least 1 family, suggesting that it is a mutation hotspot. EKD1, ICCA, and BFIS2 segregated with the mutation even within the same family. The findings indicated that all 3 disorders are allelic and are likely caused by a similar mechanism. </p>
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<strong>REFERENCES</strong>
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Heron, S. E., Grinton, B. E., Kivity, S., Afawi, Z., Zuberi, S. M., Hughes, J. N., Pridmore, C., Hodgson, B. L., Iona, X., Sadleir, L. G., Pelekanos, J., Herlenius, E., and 12 others.
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<strong>PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.</strong>
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Am. J. Hum. Genet. 90: 152-160, 2012.
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[PubMed: 22243967]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.12.003]
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Lee, H.-Y., Huang, Y., Bruneau, N., Roll, P., Roberson, E. D. O., Hermann, M., Quinn, E., Maas, J., Edwards, R., Ashizawa, T., Baykan, B., Bhatia, K., and 29 others.
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<strong>Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.</strong>
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Cell Rep. 1: 2-12, 2012.
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[PubMed: 22832103]
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[Full Text: https://doi.org/10.1016/j.celrep.2011.11.001]
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Lee, W.-L., Tay, A., Ong, H.-T., Goh, L.-M., Monaco, A. P., Szepetowski, P.
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<strong>Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family.</strong>
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Hum. Genet. 103: 608-612, 1998.
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[PubMed: 9860304]
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Ono, S., Yoshiura, K., Kinoshita, A., Kikuchi, T., Nakane, Y., Kato, N., Sadamatsu, M., Konishi, T., Nagamitsu, S., Matsuura, M., Yasuda, A., Komine, M., and 10 others.
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<strong>Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.</strong>
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J. Hum. Genet. 57: 338-341, 2012. Note: Erratum: J. Hum. Genet. 57: 399 only, 2012.
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[PubMed: 22399141]
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[Full Text: https://doi.org/10.1038/jhg.2012.23]
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Swoboda, K. J., Soong, B.-W., McKenna, C., Brunt, E. R. P., Litt, M., Bale, J. F., Jr., Ashizawa, T., Bennett, L. B., Bowcock, A. M., Roach, E. S., Gerson, D., Matsuura, T., Heydemann, P. T., Nespeca, M. P., Jankovic, J., Leppert, M., Ptacek, L. J.
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<strong>Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.</strong>
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[Full Text: https://doi.org/10.1212/wnl.55.2.224]
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Szepetowski, P., Rochette, J., Berquin, P., Piussan, C., Lathrop, G. M., Monaco, A. P.
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<strong>Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.</strong>
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[PubMed: 9382100]
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Wang, J.-L., Cao, L., Li, X.-H., Hu, Z.-M., Li, J.-D., Zhang, J.-G., Liang, Y., San-A, Li, N., Chen, S.-Q., Guo, J.-F., Jiang, H., and 12 others.
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<strong>Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.</strong>
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Brain 134: 3493-3501, 2011.
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[PubMed: 22120146]
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[Full Text: https://doi.org/10.1093/brain/awr289]
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Cassandra L. Kniffin - updated : 11/7/2012<br>Cassandra L. Kniffin - updated : 4/5/2012<br>Cassandra L. Kniffin - updated : 2/15/2012<br>Cassandra L. Kniffin - updated : 6/23/2004<br>Cassandra L. Kniffin - updated : 6/14/2004<br>Victor A. McKusick - updated : 12/11/1998
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Victor A. McKusick : 10/21/1997
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