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Entry
- #128200 - EPISODIC KINESIGENIC DYSKINESIA 1; EKD1
- OMIM
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<span class="h4">#128200</span>
<br />
<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/128200"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS128200,PS128100"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<div><a href="https://clinicaltrials.gov/search?cond=EPISODIC KINESIGENIC DYSKINESIA" 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.alliancegenome.org/disease/DOID:0090053" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/128200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 609221008<br />
<strong>ORPHA:</strong> 98809<br />
<strong>DO:</strong> 0090053<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
128200
</span>
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
EPISODIC KINESIGENIC DYSKINESIA 1; EKD1
</span>
</h3>
</div>
<div>
<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC<br />
PAROXYSMAL KINESIGENIC DYSKINESIA; PKD<br />
DYSTONIA, FAMILIAL PAROXYSMAL<br />
DYSTONIA 10; DYT10
</span>
</h4>
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<br />
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/330?start=-3&limit=10&highlight=330">
16p11.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Episodic kinesigenic dyskinesia 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128200"> 128200 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
PRRT2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614386"> 614386 </a>
</span>
</td>
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<li><a href="/graph/linear/128200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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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 id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
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<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Orofacial dyskinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49386006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49386006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152115&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152115</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002310</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dyskinesia, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851935</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9748009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9748009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100660</a>]</span><br /> -
Choreoathetosis, episodic <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> <span class="mim-feature-ids hidden">[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 /> -
Dystonia, episodic <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> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br /> -
Abnormal involuntary movements <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R25" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392702&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392702</a>]</span><br /> -
Infantile seizures, afebrile, with no neurologic sequelae (in 40% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675705</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset in childhood or adolescence (median age of 9 years)<br /> -
Increased male-to-female ratio (3-4 to 1)<br /> -
Symptoms precipitated by sudden movements<br /> -
Favorable response to anticonvulsants<br /> -
Symptoms often decrease or remit with age<br /> -
Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
Prevalence of 1 in 150,000<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the proline-rich transmembrane protein 2 gene (PRRT2, <a href="/entry/614386#0001">614386.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<h5>
Dystonia
- <a href="/phenotypicSeries/PS128100">PS128100</a>
- 37 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/65?start=-3&limit=10&highlight=65"> 1p36.32-p36.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607671"> Dystonia 13, torsion </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607671"> 607671 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607671"> DYT13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607671"> 607671 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/373?start=-3&limit=10&highlight=373"> 1p35.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617282"> Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617282"> 617282 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608205"> MECR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608205"> 608205 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/409?start=-3&limit=10&highlight=409"> 1p35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/224500"> Dystonia 2, torsion, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/224500"> 224500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142622"> HPCA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142622"> 142622 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/513?start=-3&limit=10&highlight=513"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612126"> GLUT1 deficiency syndrome 2, childhood onset </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612126"> 612126 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138140"> SLC2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138140"> 138140 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/513?start=-3&limit=10&highlight=513"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601042"> Dystonia 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601042"> 601042 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138140"> SLC2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138140"> 138140 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/185?start=-3&limit=10&highlight=185"> 2p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619687"> Dystonia 33 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619687"> 619687 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176871"> EIF2AK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176871"> 176871 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/614?start=-3&limit=10&highlight=614"> 2q14.3-q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614588"> Dystonia 21 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614588"> 614588 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614588"> DYT21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614588"> 614588 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/751?start=-3&limit=10&highlight=751"> 2q31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611147"> Paroxysmal nonkinesigenic dyskinesia 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611147"> 611147 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611147"> PNKD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611147"> 611147 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/819?start=-3&limit=10&highlight=819"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612067"> Dystonia 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612067"> 612067 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603424"> PRKRA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603424"> 603424 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1003?start=-3&limit=10&highlight=1003"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118800"> Paroxysmal nonkinesigenic dyskinesia 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118800"> 118800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609023"> PNKD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609023"> 609023 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1149?start=-3&limit=10&highlight=1149"> 2q37.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616411"> Dystonia 27 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616411"> 616411 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120250"> COL6A3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120250"> 120250 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/461?start=-3&limit=10&highlight=461"> 3p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619921"> ?Dystonia 35, childhood-onset </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619921"> 619921 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613663"> SHQ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613663"> 613663 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/339?start=-3&limit=10&highlight=339"> 4q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620427"> Dystonia 37, early-onset, with striatal lesions </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620427"> 620427 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607607"> NUP54 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607607"> 607607 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/376?start=-3&limit=10&highlight=376"> 5q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619724"> ?Dystonia 34, myoclonic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619724"> 619724 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605879"> KCNN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605879"> 605879 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/425?start=-3&limit=10&highlight=425"> 7q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159900"> Dystonia-11, myoclonic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159900"> 159900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604149"> SGCE </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604149"> 604149 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/239?start=-3&limit=10&highlight=239"> 8p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602629"> Dystonia 6, torsion </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602629"> 602629 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609520"> THAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609520"> 609520 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/326?start=-3&limit=10&highlight=326"> 9q22.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619565"> Dystonia 31 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619565"> 619565 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619600"> AOPEP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619600"> 619600 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/514?start=-3&limit=10&highlight=514"> 9q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614860"> Dystonia 23 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614860"> 614860 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614860"> DYT23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614860"> 614860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/571?start=-3&limit=10&highlight=571"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128100"> Dystonia-1, torsion </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128100"> 128100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605204"> TOR1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605204"> 605204 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/249?start=-3&limit=10&highlight=249"> 11p14.3-p14.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615034"> Dystonia 24 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615034"> 615034 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610110"> ANO3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610110"> 610110 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/629?start=-3&limit=10&highlight=629"> 11q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620245"> Episodic kinesigenic dyskinesia 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620245"> 620245 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620108"> TMEM151A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620108"> 620108 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1003?start=-3&limit=10&highlight=1003"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619637"> ?Dystonia 32 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619637"> 619637 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608549"> VPS11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608549"> 608549 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/252?start=-3&limit=10&highlight=252"> 14q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128230"> Dystonia, DOPA-responsive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128230"> 128230 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600225"> GCH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600225"> 600225 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/330?start=-3&limit=10&highlight=330"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128200"> Episodic kinesigenic dyskinesia 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128200"> 128200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614386"> PRRT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614386"> 614386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/449?start=-3&limit=10&highlight=449"> 16q13-q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611031"> Episodic kinesigenic dyskinesia 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611031"> 611031 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611031"> EKD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611031"> 611031 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/784?start=-3&limit=10&highlight=784"> 17q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620456"> ?Dystonia 22, adult-onset </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620456"> 620456 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610764"> TSPOAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610764"> 610764 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/784?start=-3&limit=10&highlight=784"> 17q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620453"> Dystonia 22, juvenile-onset </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620453"> 620453 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610764"> TSPOAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610764"> 610764 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/4?start=-3&limit=10&highlight=4"> 18p11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607488"> Dystonia-15, myoclonic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607488"> 607488 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607488"> DYT15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607488"> 607488 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/5?start=-3&limit=10&highlight=5"> 18p </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602124"> Dystonia-7, torsion </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602124"> 602124 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602124"> DYT7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602124"> 602124 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/57?start=-3&limit=10&highlight=57"> 18p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615073"> Dystonia 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615073"> 615073 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/139312"> GNAL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/139312"> 139312 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/185?start=-3&limit=10&highlight=185"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128101"> Dystonia 4, torsion, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128101"> 128101 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602662"> TUBB4A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602662"> 602662 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/595?start=-3&limit=10&highlight=595"> 19q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617284"> Dystonia 28, childhood-onset </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617284"> 617284 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606834"> KMT2B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606834"> 606834 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/745?start=-3&limit=10&highlight=745"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128235"> Dystonia-12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128235"> 128235 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182350"> ATP1A3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182350"> 182350 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/40?start=-3&limit=10&highlight=40"> 20p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619291"> Dystonia 30 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619291"> 619291 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608550"> VPS16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608550"> 608550 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/116?start=-3&limit=10&highlight=116"> 20p11.2-q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612406"> Dystonia-17, primary torsion </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612406"> 612406 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612406"> DYT17 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612406"> 612406 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/234?start=-3&limit=10&highlight=234"> 22q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616398"> Dystonia 26, myoclonic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616398"> 616398 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616386"> KCTD17 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616386"> 616386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/410?start=-3&limit=10&highlight=410"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/314250"> Dystonia-Parkinsonism, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/314250"> 314250 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/313650"> TAF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/313650"> 313650 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Episodic kinesigenic dyskinesia
- <a href="/phenotypicSeries/PS128200">PS128200</a>
- 3 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/629?start=-3&limit=10&highlight=629"> 11q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620245"> Episodic kinesigenic dyskinesia 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620245"> 620245 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620108"> TMEM151A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620108"> 620108 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/330?start=-3&limit=10&highlight=330"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128200"> Episodic kinesigenic dyskinesia 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128200"> 128200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614386"> PRRT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614386"> 614386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/449?start=-3&limit=10&highlight=449"> 16q13-q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611031"> Episodic kinesigenic dyskinesia 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611031"> 611031 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611031"> EKD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611031"> 611031 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because episodic kinesigenic dyskinesia-1 (EKD1), also known as paroxysmal kinesigenic dyskinesia, is caused by heterozygous mutation in the PRRT2 gene (<a href="/entry/614386">614386</a>) on chromosome 16p11.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
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<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age and show favorable response to anticonvulsant medications such as carbamazepine or phenytoin. It is the most common type of paroxysmal movement disorder. The condition is often misdiagnosed as an epileptic manifestation (summary by <a href="#2" class="mim-tip-reference" title="Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y. &lt;strong&gt;Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.&lt;/strong&gt; Nature Genet. 43: 1252-1255, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22101681/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22101681&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.1008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22101681">Chen et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" 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>PKC shares some clinical features with benign familial infantile convulsions (BFIC2; <a href="/entry/605751">605751</a>) and infantile convulsions and paroxysmal choreoathetosis (ICCA; <a href="/entry/602066">602066</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 chromosome 16p12-p11.2.</p><p><strong><em>Genetic Heterogeneity of Episodic Kinesigenic Dyskinesia</em></strong></p><p>
See also EKD2 (<a href="/entry/611031">611031</a>), which maps to chromosome 16q13-q22.1, and EKD3 (<a href="/entry/620245">620245</a>), caused by mutation in the TMEM151A gene (<a href="/entry/620108">620108</a>) on chromosome 11q13.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>Familial paroxysmal dystonia was reported as a 'pure entity' in mother and 3 sons by <a href="#21" class="mim-tip-reference" title="Weber, M. B. &lt;strong&gt;Familial paroxysmal dystonia.&lt;/strong&gt; J. Nerv. Ment. Dis. 145: 221-226, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6066074/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6066074&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00005053-196709000-00005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6066074">Weber (1967)</a>. He claimed that only 1 family had previously been reported (<a href="#7" class="mim-tip-reference" title="Lance, J. W. &lt;strong&gt;Sporadic and familial varieties of tonic seizures.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 26: 51-59, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13928397/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13928397&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp.26.1.51&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13928397">Lance, 1963</a>) and that the disorder is distinct from familial paroxysmal choreoathetosis (see PNKD1, <a href="/entry/118800">118800</a>). It may be the same as the periodic dystonia reported by <a href="#15" class="mim-tip-reference" title="Smith, L. A., Heersema, P. H. &lt;strong&gt;Periodic dystonia.&lt;/strong&gt; Mayo Clin. Proc. 16: 842-846, 1941."None>Smith and Heersema (1941)</a> in which 3 unrelated sibships of Polish and Lithuanian extraction demonstrated episodic dystonic movements of 5 to 10 seconds duration induced by movement. <a href="#5" class="mim-tip-reference" title="Kertesz, A. &lt;strong&gt;Paroxysmal kinesigenic choreoathetosis.&lt;/strong&gt; Neurology 17: 680-690, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6067487/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6067487&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.17.7.680&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6067487">Kertesz (1967)</a> called the condition paroxysmal kinesigenic choreoathetosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6066074+13928397+6067487" 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="Goodenough, D. J., Fariello, R. G., Annis, B. L., Chun, R. W. M. &lt;strong&gt;Familial and acquired paroxysmal dyskinesias: a proposed classification with delineation of clinical features.&lt;/strong&gt; Arch. Neurol. 35: 827-831, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/718486/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;718486&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1978.00500360051010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="718486">Goodenough et al. (1978)</a> divided familial paroxysmal dyskinesias into kinesigenic and nonkinesigenic forms according to whether or not paroxysms are precipitated by sudden movements. The kinesigenic form differs from the nonkinesigenic form by later onset in many cases, briefer duration of attacks (seconds to minutes) which usually occur daily, and good response to anticonvulsants. <a href="#4" class="mim-tip-reference" title="Goodenough, D. J., Fariello, R. G., Annis, B. L., Chun, R. W. M. &lt;strong&gt;Familial and acquired paroxysmal dyskinesias: a proposed classification with delineation of clinical features.&lt;/strong&gt; Arch. Neurol. 35: 827-831, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/718486/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;718486&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1978.00500360051010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="718486">Goodenough et al. (1978)</a> pointed out that there are also acquired forms of paroxysmal dyskinesias, e.g., with multiple sclerosis, cerebral palsy or idiopathic hypoparathyroidism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=718486" 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>The family first reported by <a href="#11" class="mim-tip-reference" title="Mount, L. A., Reback, S. &lt;strong&gt;Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome.&lt;/strong&gt; Arch. Neurol. Psychiat. 44: 841-847, 1940."None>Mount and Reback (1940)</a> is an example of familial nonkinesigenic paroxysmal dyskinesia. In the familial nonkinesigenic form, the movements are of longer duration, occur less frequently, and rarely respond to anticonvulsants.</p><p>So-called incompletely atonic attacks of PKC appear to be especially frequent in Japanese. <a href="#3" class="mim-tip-reference" title="Fukuda, M., Hashimoto, O., Nagakubo, S., Hata, A. &lt;strong&gt;A family with an atonic variant of paroxysmal kinesigenic choreoathetosis and hypercalcitoninemia.&lt;/strong&gt; Mov. Disord. 14: 342-344, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10091631/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10091631&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1531-8257(199903)14:2&lt;342::aid-mds1022&gt;3.0.co;2-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10091631">Fukuda et al. (1999)</a> described this form in a woman, her brother, and their mother. The woman first presented at the age of 22 years with attacks of muscle weakness mainly in her limbs. The attacks of muscle weakness resembled the choreoathetotic attacks that occur in PKC in terms of their kinesigenicity and duration, clarity of consciousness during the attacks, good therapeutic response to low doses of phenytoin, and familial transmission. All 3 individuals reported by <a href="#3" class="mim-tip-reference" title="Fukuda, M., Hashimoto, O., Nagakubo, S., Hata, A. &lt;strong&gt;A family with an atonic variant of paroxysmal kinesigenic choreoathetosis and hypercalcitoninemia.&lt;/strong&gt; Mov. Disord. 14: 342-344, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10091631/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10091631&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1531-8257(199903)14:2&lt;342::aid-mds1022&gt;3.0.co;2-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10091631">Fukuda et al. (1999)</a> had hypercalcitoninemia which was unexplained. They were not thought to have multiple endocrine neoplasia type IIA (MEN2; <a href="/entry/171400">171400</a>) or IIB (MEN2B; <a href="/entry/162300">162300</a>), both of which are associated with hypercalcitoninemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10091631" 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="#14" class="mim-tip-reference" title="Sadamatsu, M., Masui, A., Sakai, T., Kunugi, H., Nanko, S., Kato, N. &lt;strong&gt;Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis.&lt;/strong&gt; Epilepsia 40: 942-949, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10403218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10403218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1528-1157.1999.tb00801.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10403218">Sadamatsu et al. (1999)</a> performed video-monitoring EEG in 2 patients with PKC during attacks elicited by movements of the lower extremities. Findings strongly suggested that the etiology should be considered distinct from that of reflex epilepsy. However, the patients in this pedigree had experienced generalized convulsions in infancy; thus, <a href="#14" class="mim-tip-reference" title="Sadamatsu, M., Masui, A., Sakai, T., Kunugi, H., Nanko, S., Kato, N. &lt;strong&gt;Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis.&lt;/strong&gt; Epilepsia 40: 942-949, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10403218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10403218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1528-1157.1999.tb00801.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10403218">Sadamatsu et al. (1999)</a> could not rule out the possibility of an epileptogenic basis for the condition. No evidence for linkage was found with any 1 of 5 candidate regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10403218" 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 comprehensive review of clinical and molecular genetics of primary dystonias, <a href="#12" class="mim-tip-reference" title="Muller, U., Steinberger, D., Nemeth, A. H. &lt;strong&gt;Clinical and molecular genetics of primary dystonias.&lt;/strong&gt; Neurogenetics 1: 165-177, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10737119/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10737119&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s100480050025&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10737119">Muller et al. (1998)</a> referred to this disorder as dystonia-10 and pointed to the reports of <a href="#5" class="mim-tip-reference" title="Kertesz, A. &lt;strong&gt;Paroxysmal kinesigenic choreoathetosis.&lt;/strong&gt; Neurology 17: 680-690, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6067487/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6067487&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.17.7.680&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6067487">Kertesz (1967)</a> and <a href="#19" class="mim-tip-reference" title="Walker, E. S. &lt;strong&gt;Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness.&lt;/strong&gt; Johns Hopkins Med. J. 148: 108-113, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7206405/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7206405&lt;/a&gt;]" pmid="7206405">Walker (1981)</a> as examples. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7206405+10737119+6067487" 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 an extensive linkage study of patients with PKC, <a href="#17" class="mim-tip-reference" title="Tomita, H., Nagamitsu, S., Wakui, K., Fukushima, Y., Yamada, K., Sadamatsu, M., Masui, A., Konishi, T., Matsuishi, T., Aihara, M., Shimizu, K., Hashimoto, K., and 12 others. &lt;strong&gt;Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.&lt;/strong&gt; Am. J. Hum. Genet. 65: 1688-1697, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10577923/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10577923&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10577923[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302682&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10577923">Tomita et al. (1999)</a> reported that 42% of their patients had afebrile, general convulsions in infancy (see, e.g., BFIC2, <a href="/entry/605751">605751</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10577923" 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="#16" class="mim-tip-reference" title="Spacey, S. D., Valente, E.-M., Wali, G. M., Warner, T. T., Jarman, P. R., Schapira, A. H. V., Dixon, P. H., Davis, M. B., Bhatia, K. P., Wood, N. W. &lt;strong&gt;Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.&lt;/strong&gt; Mov. Disord. 17: 717-725, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12210861/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12210861&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mds.10126&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12210861">Spacey et al. (2002)</a> reported a Caucasian English family in which 8 members had either PKC or seizure. Four family members with PKC had attacks that were choreic and lasted less than a minute, and four family members had generalized and/or partial seizures without PKC, including 2 with infantile seizures. There was suggestive linkage to chromosome 16 if the phenotype considered was PKC plus seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12210861" 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="Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y. &lt;strong&gt;Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.&lt;/strong&gt; Nature Genet. 43: 1252-1255, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22101681/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22101681&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.1008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22101681">Chen et al. (2011)</a> reported 8 unrelated Han Chinese families with EKD1 confirmed by genetic analysis (<a href="/entry/614386#0001">614386.0001</a>-<a href="/entry/614386#0003">614386.0003</a>). The transmission pattern in each family was consistent with autosomal dominant inheritance. The proband of 1 family was described in detail. He had onset at age 6 years of dystonic posturing of the head and arm, usually triggered by standing up quickly. This occurred up to 10 times per day, and lasted about 5 to 10 minutes. Brain MRI and EEG were normal at age 9 years. Treatment with carbamazepine resulted in complete symptom resolution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" 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 2-stage study, <a href="#8" class="mim-tip-reference" title="Li, H.-F., Chen, W.-J., Ni, W., Wang, K.-Y., Liu, G.-L., Wang, N., Xiong, Z.-Q., Xu, J., Wu, Z.-Y. &lt;strong&gt;PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response.&lt;/strong&gt; Neurology 80: 1534-1535, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23535490/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23535490&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0b013e31828cf7e1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23535490">Li et al. (2013)</a> found that all (100%) of 25 patients with EKD1 due to mutations in the PRRT2 gene responded favorably to treatment with carbamazepine, whereas 31 (94%) of 33 patients with a similar phenotype who did not carry PRRT2 mutations had no or only partial response to this medication. The study provided Class IV evidence of a correlation between genotype and phenotype in patients with EKD1 due to a PRRT2 mutation and response to carbamazepine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23535490" 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>Both autosomal dominant and autosomal recessive modes of inheritance of the kinesigenic form were proposed by <a href="#4" class="mim-tip-reference" title="Goodenough, D. J., Fariello, R. G., Annis, B. L., Chun, R. W. M. &lt;strong&gt;Familial and acquired paroxysmal dyskinesias: a proposed classification with delineation of clinical features.&lt;/strong&gt; Arch. Neurol. 35: 827-831, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/718486/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;718486&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1978.00500360051010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="718486">Goodenough et al. (1978)</a>. The cases interpreted as autosomal recessive may have been instances of reduced penetrance in an affected parent or new mutation. Autosomal dominant inheritance is well established in the familial nonkinesigenic form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=718486" 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="#14" class="mim-tip-reference" title="Sadamatsu, M., Masui, A., Sakai, T., Kunugi, H., Nanko, S., Kato, N. &lt;strong&gt;Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis.&lt;/strong&gt; Epilepsia 40: 942-949, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10403218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10403218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1528-1157.1999.tb00801.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10403218">Sadamatsu et al. (1999)</a> studied a pedigree in which 5 members in 3 generations had PKC; 1 individual in the second generation was not affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10403218" 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>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Mapping</strong>
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<p><a href="#17" class="mim-tip-reference" title="Tomita, H., Nagamitsu, S., Wakui, K., Fukushima, Y., Yamada, K., Sadamatsu, M., Masui, A., Konishi, T., Matsuishi, T., Aihara, M., Shimizu, K., Hashimoto, K., and 12 others. &lt;strong&gt;Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.&lt;/strong&gt; Am. J. Hum. Genet. 65: 1688-1697, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10577923/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10577923&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10577923[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302682&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10577923">Tomita et al. (1999)</a> performed genomewide linkage analysis on 8 Japanese families with PKC. Two-point linkage analysis provided a maximum lod score of 10.27 (recombination fraction of 0.00; penetrance of 0.7) at marker D16S3081, and a maximum multipoint lod score for a subset of markers was calculated to be 11.51 (penetrance of 0.8) at D16S3080. Haplotype analysis defined the disease locus within a region of approximately 12.4 cM between D16S3093 and D16S416. P1-derived artificial chromosome clones containing D16S3093 and D16S416 were mapped by FISH to 16p11.2 and 16q12.1, respectively. Thus, in the 8 families studied, the chromosomal location of the PKC critical region (PKCCR) is 16p11.2-q12.1. The same region was implicated in a study of an African American family with PKC in which linkage analysis localized the gene to an 18-cM interval between D16S3100 and D16S771 (<a href="#1" class="mim-tip-reference" title="Bennett, L. B., Roach, E. S., Bowcock, A. M. &lt;strong&gt;A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16.&lt;/strong&gt; Neurology 54: 125-130, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10636137/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10636137&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.54.1.125&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10636137">Bennett et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10636137+10577923" 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="#18" class="mim-tip-reference" title="Tomita, H., Yamada, K., Ghadami, M., Ogura, T., Yanai, Y., Nakatomi, K., Sadamatsu, M., Masui, A., Kato, N., Niikawa, N. &lt;strong&gt;Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16.&lt;/strong&gt; Lancet 359: 2000-2002, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12076558/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12076558&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/S0140-6736(02)08835-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12076558">Tomita et al. (2002)</a> showed that wet ear wax (<a href="/entry/117800">117800</a>) cosegregated with PKC in 8 Japanese families and indeed maps to the same region of chromosome 16. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12076558" 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="#6" class="mim-tip-reference" title="Kikuchi, T., Nomura, M., Tomita, H., Harada, N., Kanai, K., Konishi, T., Yasuda, A., Matsuura, M., Kato, N., Yoshiura, K., Niikawa, N. &lt;strong&gt;Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.&lt;/strong&gt; J. Hum. Genet. 52: 334-341, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17387577/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17387577&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10038-007-0116-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17387577">Kikuchi et al. (2007)</a> reported 4 new families in which a total of 16 members had autosomal dominant PKC. Haplotype analysis showed that affected individuals shared a 24-cM segment between D16S3131 and D16S408. Molecular analysis of coding regions of 157 genes within the PKCCR in these 4 families and 3 additional PKC families did not show any clear pathogenic mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17387577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
<a href="#16" class="mim-tip-reference" title="Spacey, S. D., Valente, E.-M., Wali, G. M., Warner, T. T., Jarman, P. R., Schapira, A. H. V., Dixon, P. H., Davis, M. B., Bhatia, K. P., Wood, N. W. &lt;strong&gt;Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.&lt;/strong&gt; Mov. Disord. 17: 717-725, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12210861/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12210861&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mds.10126&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12210861">Spacey et al. (2002)</a> reported a 3-generation Caucasian English family in which 4 individuals had PKC inherited in an autosomal dominant pattern. Age of onset ranged from 6 to 13 years, and dystonic episodes lasted only 5 to 20 seconds. None had epilepsy or migraine. Three patients showed remission of PKC at ages 28 to 31 years. Linkage analysis excluded the pericentromeric region of chromosome 16, indicating genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12210861" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="cytogenetics" class="mim-anchor"></a>
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Cytogenetics</strong>
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<p><a href="#9" class="mim-tip-reference" title="Lipton, J., Rivkin, M. J. &lt;strong&gt;16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child.&lt;/strong&gt; Neurology 73: 479-480, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19667324/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19667324&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0b013e3181b16393&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19667324">Lipton and Rivkin (2009)</a> reported a 17-year-old boy with a history of carbamazepine-responsive paroxysmal kinesigenic dyskinesia, possible infantile-onset convulsions, and verbal learning disabilities, who presented with acute-onset gait ataxia. Motor development was normal prior to onset. Neurologic examination showed features of parkinsonism, including masked facies, monotonous prosody, and decreased spontaneous movement in all 4 limbs with poor initiation. There was also mild extrapyramidal rigidity, cogwheeling in the upper extremities, and truncal instability. Brain MRI showed mild cerebellar atrophy. Chromosomal microarray analysis detected a de novo 544-kb deletion on chromosome 16p11.2. Treatment with L-DOPA resulted in rapid resolution of parkinsonism. <a href="#9" class="mim-tip-reference" title="Lipton, J., Rivkin, M. J. &lt;strong&gt;16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child.&lt;/strong&gt; Neurology 73: 479-480, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19667324/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19667324&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0b013e3181b16393&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19667324">Lipton and Rivkin (2009)</a> noted that parkinsonism is usually not described in this condition, and suggested that a disturbance in dopaminergic neurotransmission may underlie the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19667324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
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<p>In affected members of 8 unrelated Han Chinese families with episodic kinesigenic dyskinesia-1, <a href="#2" class="mim-tip-reference" title="Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y. &lt;strong&gt;Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.&lt;/strong&gt; Nature Genet. 43: 1252-1255, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22101681/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22101681&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.1008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22101681">Chen et al. (2011)</a> identified 3 different heterozygous truncating mutations in the PRRT2 gene (<a href="/entry/614386#0001">614386.0001</a>-<a href="/entry/614386#0003">614386.0003</a>). The first mutation was found by exome sequencing of a large 4-generation family with 17 affected individuals. The protein was found to be highly expressed in various regions of the mouse developing central nervous system. Expression of a truncated form of PRRT2 in COS-7 cells showed loss of membrane targeting and localization of the truncated protein in the cytoplasm, suggesting interruption of protein function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" 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>Using a combination of exome sequencing and linkage analysis in 2 large Han Chinese families with EKD1, <a href="#20" 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. &lt;strong&gt;Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.&lt;/strong&gt; Brain 134: 3493-3501, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22120146/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22120146&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22120146[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awr289&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22120146">Wang et al. (2011)</a> independently and simultaneously 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 (ICCA; <a href="/entry/602066">602066</a>), indicating intrafamilial variability. Analysis of 3 additional Han Chinese families with EKD1 revealed that 2 carried the 649dupC mutation and 1 had a different PRRT2 mutation (<a href="/entry/614386#0010">614386.0010</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'})"><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="#10" class="mim-tip-reference" title="Meneret, A., Grabli, D., Depienne, C., Gaudebout, C., Picard, F., Durr, A., Lagroua, I., Bouteiller, D., Mignot, C., Doummar, D., Anheim, M., Tranchant, C., and 9 others. &lt;strong&gt;PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.&lt;/strong&gt; Neurology 79: 170-174, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22744660/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22744660&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0b013e31825f06c3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22744660">Meneret et al. (2012)</a> identified heterozygous mutations in the PRRT2 gene (see, e.g., <a href="/entry/614386#0001">614386.0001</a>; <a href="/entry/614386#0011">614386.0011</a>-<a href="/entry/614386#0012">614386.0012</a>) in 22 (65%) of 34 patients of European descent with EKD1 (20 patients) or ICCA (2 patients). Mutations were found in 13 (93%) of 14 familial cases and in 9 (45%) of 20 sporadic cases. There was evidence for incomplete penetrance. The most common mutation was 649dupC, which was found in 17 of the 22 patients with PRRT2 mutations, although this was not due to a founder effect. Compared to patients without PRRT2 mutations, those with mutations had a slightly earlier age at onset (median age of 15 years and 9 years, respectively), but otherwise there were no phenotypic differences between the 2 groups. Most of the mutations caused premature termination, leading <a href="#10" class="mim-tip-reference" title="Meneret, A., Grabli, D., Depienne, C., Gaudebout, C., Picard, F., Durr, A., Lagroua, I., Bouteiller, D., Mignot, C., Doummar, D., Anheim, M., Tranchant, C., and 9 others. &lt;strong&gt;PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.&lt;/strong&gt; Neurology 79: 170-174, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22744660/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22744660&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0b013e31825f06c3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22744660">Meneret et al. (2012)</a> to suggest that the disorders result from PRRT2 haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22744660" 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="#13" 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. &lt;strong&gt;Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.&lt;/strong&gt; J. Hum. Genet. 57: 338-341, 2012. Note: Erratum: J. Hum. Genet. 57: 399 only, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22399141/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22399141&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/jhg.2012.23&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="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 mutational 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. In 1 family, a Japanese mother and daughter both carried a heterozygous mutation (Q250X; <a href="/entry/614386#0015">614386.0015</a>). The mother had EKD1 and her daughter had BFIS2. <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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<strong>Population Genetics</strong>
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<p>Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement disorder, with a prevalence of 1 in 150,000 individuals (<a href="#2" class="mim-tip-reference" title="Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y. &lt;strong&gt;Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.&lt;/strong&gt; Nature Genet. 43: 1252-1255, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22101681/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22101681&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.1008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22101681">Chen et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Bennett2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bennett, L. B., Roach, E. S., Bowcock, A. M.
<strong>A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16.</strong>
Neurology 54: 125-130, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10636137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10636137</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10636137" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.54.1.125" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Chen2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y.
<strong>Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.</strong>
Nature Genet. 43: 1252-1255, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22101681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22101681</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22101681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.1008" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Fukuda1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fukuda, M., Hashimoto, O., Nagakubo, S., Hata, A.
<strong>A family with an atonic variant of paroxysmal kinesigenic choreoathetosis and hypercalcitoninemia.</strong>
Mov. Disord. 14: 342-344, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10091631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10091631</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10091631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/1531-8257(199903)14:2&lt;342::aid-mds1022&gt;3.0.co;2-7" target="_blank">Full Text</a>]
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<a id="Goodenough1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goodenough, D. J., Fariello, R. G., Annis, B. L., Chun, R. W. M.
<strong>Familial and acquired paroxysmal dyskinesias: a proposed classification with delineation of clinical features.</strong>
Arch. Neurol. 35: 827-831, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/718486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">718486</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=718486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archneur.1978.00500360051010" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Kertesz1967" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kertesz, A.
<strong>Paroxysmal kinesigenic choreoathetosis.</strong>
Neurology 17: 680-690, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6067487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6067487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6067487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.17.7.680" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
<a id="Kikuchi2007" class="mim-anchor"></a>
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<p class="mim-text-font">
Kikuchi, T., Nomura, M., Tomita, H., Harada, N., Kanai, K., Konishi, T., Yasuda, A., Matsuura, M., Kato, N., Yoshiura, K., Niikawa, N.
<strong>Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.</strong>
J. Hum. Genet. 52: 334-341, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17387577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17387577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17387577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s10038-007-0116-7" target="_blank">Full Text</a>]
</p>
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<a id="7" class="mim-anchor"></a>
<a id="Lance1963" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lance, J. W.
<strong>Sporadic and familial varieties of tonic seizures.</strong>
J. Neurol. Neurosurg. Psychiat. 26: 51-59, 1963.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13928397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13928397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13928397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jnnp.26.1.51" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
<a id="Li2013" class="mim-anchor"></a>
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<p class="mim-text-font">
Li, H.-F., Chen, W.-J., Ni, W., Wang, K.-Y., Liu, G.-L., Wang, N., Xiong, Z.-Q., Xu, J., Wu, Z.-Y.
<strong>PRRT2 mutation correlated with phenotype of paroxysmal kinesigenic dyskinesia and drug response.</strong>
Neurology 80: 1534-1535, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23535490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23535490</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23535490" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/WNL.0b013e31828cf7e1" target="_blank">Full Text</a>]
</p>
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</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Lipton2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lipton, J., Rivkin, M. J.
<strong>16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child.</strong>
Neurology 73: 479-480, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19667324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19667324</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19667324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/WNL.0b013e3181b16393" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Meneret2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Meneret, A., Grabli, D., Depienne, C., Gaudebout, C., Picard, F., Durr, A., Lagroua, I., Bouteiller, D., Mignot, C., Doummar, D., Anheim, M., Tranchant, C., and 9 others.
<strong>PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.</strong>
Neurology 79: 170-174, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22744660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22744660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22744660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/WNL.0b013e31825f06c3" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Mount1940" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mount, L. A., Reback, S.
<strong>Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome.</strong>
Arch. Neurol. Psychiat. 44: 841-847, 1940.
</p>
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</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Muller1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Muller, U., Steinberger, D., Nemeth, A. H.
<strong>Clinical and molecular genetics of primary dystonias.</strong>
Neurogenetics 1: 165-177, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s100480050025" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Ono2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
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://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>]
[<a href="https://doi.org/10.1038/jhg.2012.23" target="_blank">Full Text</a>]
</p>
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</li>
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<a id="14" class="mim-anchor"></a>
<a id="Sadamatsu1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sadamatsu, M., Masui, A., Sakai, T., Kunugi, H., Nanko, S., Kato, N.
<strong>Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis.</strong>
Epilepsia 40: 942-949, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10403218/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10403218</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10403218" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1528-1157.1999.tb00801.x" target="_blank">Full Text</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Smith1941" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Smith, L. A., Heersema, P. H.
<strong>Periodic dystonia.</strong>
Mayo Clin. Proc. 16: 842-846, 1941.
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Spacey2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spacey, S. D., Valente, E.-M., Wali, G. M., Warner, T. T., Jarman, P. R., Schapira, A. H. V., Dixon, P. H., Davis, M. B., Bhatia, K. P., Wood, N. W.
<strong>Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene.</strong>
Mov. Disord. 17: 717-725, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210861</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12210861" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/mds.10126" target="_blank">Full Text</a>]
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</li>
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<a id="17" class="mim-anchor"></a>
<a id="Tomita1999" class="mim-anchor"></a>
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Tomita, H., Nagamitsu, S., Wakui, K., Fukushima, Y., Yamada, K., Sadamatsu, M., Masui, A., Konishi, T., Matsuishi, T., Aihara, M., Shimizu, K., Hashimoto, K., and 12 others.
<strong>Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.</strong>
Am. J. Hum. Genet. 65: 1688-1697, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577923</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10577923[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=10577923" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/302682" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
<a id="Tomita2002" class="mim-anchor"></a>
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Tomita, H., Yamada, K., Ghadami, M., Ogura, T., Yanai, Y., Nakatomi, K., Sadamatsu, M., Masui, A., Kato, N., Niikawa, N.
<strong>Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16.</strong>
Lancet 359: 2000-2002, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12076558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12076558</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12076558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/S0140-6736(02)08835-9" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
<a id="Walker1981" class="mim-anchor"></a>
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Walker, E. S.
<strong>Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness.</strong>
Johns Hopkins Med. J. 148: 108-113, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7206405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7206405</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7206405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="20" class="mim-anchor"></a>
<a id="Wang2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
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://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>]
[<a href="https://doi.org/10.1093/brain/awr289" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
<a id="Weber1967" class="mim-anchor"></a>
<div class="">
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Weber, M. B.
<strong>Familial paroxysmal dystonia.</strong>
J. Nerv. Ment. Dis. 145: 221-226, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6066074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6066074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6066074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00005053-196709000-00005" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 1/5/2015
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Cassandra L. Kniffin - updated : 11/7/2012<br>Cassandra L. Kniffin - updated : 10/25/2012<br>Cassandra L. Kniffin - updated : 4/5/2012<br>Cassandra L. Kniffin - updated : 12/12/2011<br>Cassandra L. Kniffin - updated : 12/17/2009<br>Cassandra L. Kniffin - updated : 5/16/2007<br>Victor A. McKusick - updated : 9/16/2002<br>Cassandra L. Kniffin - reorganized : 8/27/2002<br>Kathryn R. Wagner - updated : 3/13/2001<br>Victor A. McKusick - updated : 2/24/2000<br>Victor A. McKusick - updated : 12/17/1999<br>Victor A. McKusick - updated : 9/29/1999<br>Victor A. McKusick - updated : 5/19/1998
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Creation Date:
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Victor A. McKusick : 6/4/1986
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alopez : 02/15/2023
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ckniffin : 02/13/2023<br>carol : 05/30/2017<br>carol : 01/14/2015<br>mcolton : 1/7/2015<br>ckniffin : 1/5/2015<br>mcolton : 2/21/2014<br>carol : 9/6/2013<br>alopez : 12/13/2012<br>carol : 11/7/2012<br>ckniffin : 11/7/2012<br>carol : 11/5/2012<br>ckniffin : 10/25/2012<br>terry : 4/6/2012<br>carol : 4/6/2012<br>ckniffin : 4/5/2012<br>carol : 2/21/2012<br>ckniffin : 2/15/2012<br>carol : 12/12/2011<br>ckniffin : 12/12/2011<br>terry : 9/8/2010<br>wwang : 1/14/2010<br>ckniffin : 12/17/2009<br>wwang : 7/10/2007<br>wwang : 6/14/2007<br>wwang : 5/22/2007<br>wwang : 5/21/2007<br>ckniffin : 5/16/2007<br>terry : 6/23/2006<br>ckniffin : 6/11/2004<br>ckniffin : 6/11/2004<br>carol : 3/18/2004<br>cwells : 11/10/2003<br>tkritzer : 9/24/2002<br>tkritzer : 9/16/2002<br>tkritzer : 9/16/2002<br>carol : 8/27/2002<br>ckniffin : 8/26/2002<br>carol : 3/29/2001<br>carol : 3/13/2001<br>mcapotos : 3/17/2000<br>mcapotos : 3/7/2000<br>terry : 2/24/2000<br>mgross : 12/29/1999<br>mgross : 12/28/1999<br>terry : 12/17/1999<br>mgross : 10/13/1999<br>terry : 9/29/1999<br>carol : 5/22/1998<br>terry : 5/19/1998<br>terry : 5/19/1998<br>carol : 5/16/1998<br>mimadm : 6/25/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>marie : 12/15/1986
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<h3>
<span class="mim-font">
<strong>#</strong> 128200
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<span class="mim-font">
EPISODIC KINESIGENIC DYSKINESIA 1; EKD1
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<em>Alternative titles; symbols</em>
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PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC<br />
PAROXYSMAL KINESIGENIC DYSKINESIA; PKD<br />
DYSTONIA, FAMILIAL PAROXYSMAL<br />
DYSTONIA 10; DYT10
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<strong>SNOMEDCT:</strong> 609221008; &nbsp;
<strong>ORPHA:</strong> 98809; &nbsp;
<strong>DO:</strong> 0090053; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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16p11.2
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Episodic kinesigenic dyskinesia 1
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128200
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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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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because episodic kinesigenic dyskinesia-1 (EKD1), also known as paroxysmal kinesigenic dyskinesia, is caused by heterozygous mutation in the PRRT2 gene (614386) on chromosome 16p11.</p>
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<strong>Description</strong>
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<p>Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age and show favorable response to anticonvulsant medications such as carbamazepine or phenytoin. It is the most common type of paroxysmal movement disorder. The condition is often misdiagnosed as an epileptic manifestation (summary by Chen et al., 2011). </p><p>PKC shares some clinical features with benign familial infantile convulsions (BFIC2; 605751) and infantile convulsions and paroxysmal choreoathetosis (ICCA; 602066), which are allelic disorders.</p><p>See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (608105), which maps to chromosome 16p12-p11.2.</p><p><strong><em>Genetic Heterogeneity of Episodic Kinesigenic Dyskinesia</em></strong></p><p>
See also EKD2 (611031), which maps to chromosome 16q13-q22.1, and EKD3 (620245), caused by mutation in the TMEM151A gene (620108) on chromosome 11q13.</p>
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<strong>Clinical Features</strong>
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<p>Familial paroxysmal dystonia was reported as a 'pure entity' in mother and 3 sons by Weber (1967). He claimed that only 1 family had previously been reported (Lance, 1963) and that the disorder is distinct from familial paroxysmal choreoathetosis (see PNKD1, 118800). It may be the same as the periodic dystonia reported by Smith and Heersema (1941) in which 3 unrelated sibships of Polish and Lithuanian extraction demonstrated episodic dystonic movements of 5 to 10 seconds duration induced by movement. Kertesz (1967) called the condition paroxysmal kinesigenic choreoathetosis. </p><p>Goodenough et al. (1978) divided familial paroxysmal dyskinesias into kinesigenic and nonkinesigenic forms according to whether or not paroxysms are precipitated by sudden movements. The kinesigenic form differs from the nonkinesigenic form by later onset in many cases, briefer duration of attacks (seconds to minutes) which usually occur daily, and good response to anticonvulsants. Goodenough et al. (1978) pointed out that there are also acquired forms of paroxysmal dyskinesias, e.g., with multiple sclerosis, cerebral palsy or idiopathic hypoparathyroidism. </p><p>The family first reported by Mount and Reback (1940) is an example of familial nonkinesigenic paroxysmal dyskinesia. In the familial nonkinesigenic form, the movements are of longer duration, occur less frequently, and rarely respond to anticonvulsants.</p><p>So-called incompletely atonic attacks of PKC appear to be especially frequent in Japanese. Fukuda et al. (1999) described this form in a woman, her brother, and their mother. The woman first presented at the age of 22 years with attacks of muscle weakness mainly in her limbs. The attacks of muscle weakness resembled the choreoathetotic attacks that occur in PKC in terms of their kinesigenicity and duration, clarity of consciousness during the attacks, good therapeutic response to low doses of phenytoin, and familial transmission. All 3 individuals reported by Fukuda et al. (1999) had hypercalcitoninemia which was unexplained. They were not thought to have multiple endocrine neoplasia type IIA (MEN2; 171400) or IIB (MEN2B; 162300), both of which are associated with hypercalcitoninemia. </p><p>Sadamatsu et al. (1999) performed video-monitoring EEG in 2 patients with PKC during attacks elicited by movements of the lower extremities. Findings strongly suggested that the etiology should be considered distinct from that of reflex epilepsy. However, the patients in this pedigree had experienced generalized convulsions in infancy; thus, Sadamatsu et al. (1999) could not rule out the possibility of an epileptogenic basis for the condition. No evidence for linkage was found with any 1 of 5 candidate regions. </p><p>In a comprehensive review of clinical and molecular genetics of primary dystonias, Muller et al. (1998) referred to this disorder as dystonia-10 and pointed to the reports of Kertesz (1967) and Walker (1981) as examples. </p><p>In an extensive linkage study of patients with PKC, Tomita et al. (1999) reported that 42% of their patients had afebrile, general convulsions in infancy (see, e.g., BFIC2, 605751). </p><p>Spacey et al. (2002) reported a Caucasian English family in which 8 members had either PKC or seizure. Four family members with PKC had attacks that were choreic and lasted less than a minute, and four family members had generalized and/or partial seizures without PKC, including 2 with infantile seizures. There was suggestive linkage to chromosome 16 if the phenotype considered was PKC plus seizures. </p><p>Chen et al. (2011) reported 8 unrelated Han Chinese families with EKD1 confirmed by genetic analysis (614386.0001-614386.0003). The transmission pattern in each family was consistent with autosomal dominant inheritance. The proband of 1 family was described in detail. He had onset at age 6 years of dystonic posturing of the head and arm, usually triggered by standing up quickly. This occurred up to 10 times per day, and lasted about 5 to 10 minutes. Brain MRI and EEG were normal at age 9 years. Treatment with carbamazepine resulted in complete symptom resolution. </p>
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<strong>Clinical Management</strong>
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<p>In a 2-stage study, Li et al. (2013) found that all (100%) of 25 patients with EKD1 due to mutations in the PRRT2 gene responded favorably to treatment with carbamazepine, whereas 31 (94%) of 33 patients with a similar phenotype who did not carry PRRT2 mutations had no or only partial response to this medication. The study provided Class IV evidence of a correlation between genotype and phenotype in patients with EKD1 due to a PRRT2 mutation and response to carbamazepine. </p>
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<strong>Inheritance</strong>
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<p>Both autosomal dominant and autosomal recessive modes of inheritance of the kinesigenic form were proposed by Goodenough et al. (1978). The cases interpreted as autosomal recessive may have been instances of reduced penetrance in an affected parent or new mutation. Autosomal dominant inheritance is well established in the familial nonkinesigenic form. </p><p>Sadamatsu et al. (1999) studied a pedigree in which 5 members in 3 generations had PKC; 1 individual in the second generation was not affected. </p>
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<strong>Mapping</strong>
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<p>Tomita et al. (1999) performed genomewide linkage analysis on 8 Japanese families with PKC. Two-point linkage analysis provided a maximum lod score of 10.27 (recombination fraction of 0.00; penetrance of 0.7) at marker D16S3081, and a maximum multipoint lod score for a subset of markers was calculated to be 11.51 (penetrance of 0.8) at D16S3080. Haplotype analysis defined the disease locus within a region of approximately 12.4 cM between D16S3093 and D16S416. P1-derived artificial chromosome clones containing D16S3093 and D16S416 were mapped by FISH to 16p11.2 and 16q12.1, respectively. Thus, in the 8 families studied, the chromosomal location of the PKC critical region (PKCCR) is 16p11.2-q12.1. The same region was implicated in a study of an African American family with PKC in which linkage analysis localized the gene to an 18-cM interval between D16S3100 and D16S771 (Bennett et al., 2000). </p><p>Tomita et al. (2002) showed that wet ear wax (117800) cosegregated with PKC in 8 Japanese families and indeed maps to the same region of chromosome 16. </p><p>Kikuchi et al. (2007) reported 4 new families in which a total of 16 members had autosomal dominant PKC. Haplotype analysis showed that affected individuals shared a 24-cM segment between D16S3131 and D16S408. Molecular analysis of coding regions of 157 genes within the PKCCR in these 4 families and 3 additional PKC families did not show any clear pathogenic mutations. </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
Spacey et al. (2002) reported a 3-generation Caucasian English family in which 4 individuals had PKC inherited in an autosomal dominant pattern. Age of onset ranged from 6 to 13 years, and dystonic episodes lasted only 5 to 20 seconds. None had epilepsy or migraine. Three patients showed remission of PKC at ages 28 to 31 years. Linkage analysis excluded the pericentromeric region of chromosome 16, indicating genetic heterogeneity. </p>
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<strong>Cytogenetics</strong>
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<p>Lipton and Rivkin (2009) reported a 17-year-old boy with a history of carbamazepine-responsive paroxysmal kinesigenic dyskinesia, possible infantile-onset convulsions, and verbal learning disabilities, who presented with acute-onset gait ataxia. Motor development was normal prior to onset. Neurologic examination showed features of parkinsonism, including masked facies, monotonous prosody, and decreased spontaneous movement in all 4 limbs with poor initiation. There was also mild extrapyramidal rigidity, cogwheeling in the upper extremities, and truncal instability. Brain MRI showed mild cerebellar atrophy. Chromosomal microarray analysis detected a de novo 544-kb deletion on chromosome 16p11.2. Treatment with L-DOPA resulted in rapid resolution of parkinsonism. Lipton and Rivkin (2009) noted that parkinsonism is usually not described in this condition, and suggested that a disturbance in dopaminergic neurotransmission may underlie the disorder. </p>
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<h4>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 8 unrelated Han Chinese families with episodic kinesigenic dyskinesia-1, Chen et al. (2011) identified 3 different heterozygous truncating mutations in the PRRT2 gene (614386.0001-614386.0003). The first mutation was found by exome sequencing of a large 4-generation family with 17 affected individuals. The protein was found to be highly expressed in various regions of the mouse developing central nervous system. Expression of a truncated form of PRRT2 in COS-7 cells showed loss of membrane targeting and localization of the truncated protein in the cytoplasm, suggesting interruption of protein function. </p><p>Using a combination of exome sequencing and linkage analysis in 2 large Han Chinese families with EKD1, Wang et al. (2011) independently and simultaneously 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 (ICCA; 602066), indicating intrafamilial variability. Analysis of 3 additional Han Chinese families with EKD1 revealed that 2 carried the 649dupC mutation and 1 had a different PRRT2 mutation (614386.0010). </p><p>Meneret et al. (2012) identified heterozygous mutations in the PRRT2 gene (see, e.g., 614386.0001; 614386.0011-614386.0012) in 22 (65%) of 34 patients of European descent with EKD1 (20 patients) or ICCA (2 patients). Mutations were found in 13 (93%) of 14 familial cases and in 9 (45%) of 20 sporadic cases. There was evidence for incomplete penetrance. The most common mutation was 649dupC, which was found in 17 of the 22 patients with PRRT2 mutations, although this was not due to a founder effect. Compared to patients without PRRT2 mutations, those with mutations had a slightly earlier age at onset (median age of 15 years and 9 years, respectively), but otherwise there were no phenotypic differences between the 2 groups. Most of the mutations caused premature termination, leading Meneret et al. (2012) to suggest that the disorders result from PRRT2 haploinsufficiency. </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 mutational 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. In 1 family, a Japanese mother and daughter both carried a heterozygous mutation (Q250X; 614386.0015). The mother had EKD1 and her daughter had BFIS2. </p>
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<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal movement disorder, with a prevalence of 1 in 150,000 individuals (Chen et al., 2011). </p>
</span>
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</div>
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<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
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<div>
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</p>
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Chen, W.-J., Lin, Y., Xiong, Z.-Q., Wei, W., Ni, W., Tan, G.-H., Guo, S.-L., He, J., Chen, Y.-F., Zhang, Q.-J., Li, H.-F., Lin, Y., Murong, S.-X., Xu, J., Wang, N., Wu, Z.-Y.
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Li, H.-F., Chen, W.-J., Ni, W., Wang, K.-Y., Liu, G.-L., Wang, N., Xiong, Z.-Q., Xu, J., Wu, Z.-Y.
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</p>
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</p>
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Meneret, A., Grabli, D., Depienne, C., Gaudebout, C., Picard, F., Durr, A., Lagroua, I., Bouteiller, D., Mignot, C., Doummar, D., Anheim, M., Tranchant, C., and 9 others.
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</p>
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Mount, L. A., Reback, S.
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</p>
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Muller, U., Steinberger, D., Nemeth, A. H.
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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.
<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.
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</p>
</li>
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Sadamatsu, M., Masui, A., Sakai, T., Kunugi, H., Nanko, S., Kato, N.
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[PubMed: 10403218]
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</p>
</li>
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Smith, L. A., Heersema, P. H.
<strong>Periodic dystonia.</strong>
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</p>
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Spacey, S. D., Valente, E.-M., Wali, G. M., Warner, T. T., Jarman, P. R., Schapira, A. H. V., Dixon, P. H., Davis, M. B., Bhatia, K. P., Wood, N. W.
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</p>
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<p class="mim-text-font">
Tomita, H., Nagamitsu, S., Wakui, K., Fukushima, Y., Yamada, K., Sadamatsu, M., Masui, A., Konishi, T., Matsuishi, T., Aihara, M., Shimizu, K., Hashimoto, K., and 12 others.
<strong>Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.</strong>
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[PubMed: 10577923]
[Full Text: https://doi.org/10.1086/302682]
</p>
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<li>
<p class="mim-text-font">
Tomita, H., Yamada, K., Ghadami, M., Ogura, T., Yanai, Y., Nakatomi, K., Sadamatsu, M., Masui, A., Kato, N., Niikawa, N.
<strong>Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16.</strong>
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</p>
</li>
<li>
<p class="mim-text-font">
Walker, E. S.
<strong>Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness.</strong>
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</p>
</li>
<li>
<p class="mim-text-font">
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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[PubMed: 22120146]
[Full Text: https://doi.org/10.1093/brain/awr289]
</p>
</li>
<li>
<p class="mim-text-font">
Weber, M. B.
<strong>Familial paroxysmal dystonia.</strong>
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[PubMed: 6066074]
[Full Text: https://doi.org/10.1097/00005053-196709000-00005]
</p>
</li>
</ol>
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Cassandra L. Kniffin - updated : 1/5/2015<br>Cassandra L. Kniffin - updated : 11/7/2012<br>Cassandra L. Kniffin - updated : 10/25/2012<br>Cassandra L. Kniffin - updated : 4/5/2012<br>Cassandra L. Kniffin - updated : 12/12/2011<br>Cassandra L. Kniffin - updated : 12/17/2009<br>Cassandra L. Kniffin - updated : 5/16/2007<br>Victor A. McKusick - updated : 9/16/2002<br>Cassandra L. Kniffin - reorganized : 8/27/2002<br>Kathryn R. Wagner - updated : 3/13/2001<br>Victor A. McKusick - updated : 2/24/2000<br>Victor A. McKusick - updated : 12/17/1999<br>Victor A. McKusick - updated : 9/29/1999<br>Victor A. McKusick - updated : 5/19/1998
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Victor A. McKusick : 6/4/1986
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