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Entry
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- #160120 - EPISODIC ATAXIA, TYPE 1; EA1
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- OMIM
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<p>
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<span class="h4">#160120</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/160120"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS160120"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=EPISODIC ATAXIA, TYPE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10444&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Episodic ataxia type 1 </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1292&Typ=Pat" title="Hereditary continuous muscle fiber activity" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Hereditary continuous musc… </a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK25442/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8349" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=160120[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=37612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Episodic ataxia type 1</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=972" title="Hereditary continuous muscle fiber activity" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Hereditary continuous musc…</a></div>
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</div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050989" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/160120" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050989" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 421182009<br />
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<strong>ORPHA:</strong> 37612, 972<br />
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<strong>DO:</strong> 0050989<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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160120
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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EPISODIC ATAXIA, TYPE 1; EA1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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EPISODIC ATAXIA WITH MYOKYMIA; EAM<br />
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ATAXIA, EPISODIC, WITH MYOKYMIA; AEM; AEMK<br />
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PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY<br />
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MYOKYMIA WITH PERIODIC ATAXIA
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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<div>
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<span class="h3 mim-font">
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MYOKYMIA 1, INCLUDED
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<span class="h4 mim-font">
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CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY, INCLUDED<br />
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ISAACS-MERTENS SYNDROME, INCLUDED<br />
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MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA, INCLUDED
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</span>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/41?start=-3&limit=10&highlight=41">
|
|
12p13.32
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Episodic ataxia/myokymia syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160120"> 160120 </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">
|
|
KCNA1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/176260"> 176260 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/160120" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS160120" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/160120" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/160120" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal 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> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vertigo, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860428&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860428</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399090003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399090003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399153001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399153001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R42</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.85" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.85</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002321</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Blurred vision, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843520</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246636008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246636008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111516008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111516008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000622" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000622</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hand posture resembling carpopedal spasm, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805756</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Calf muscle enlargement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805755</a>]</span><br /> -
|
|
EMG shows polyphasic continuous motor unit discharges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969555</a>]</span><br /> -
|
|
Muscle biopsy shows enlargement of type I muscle fibers, consistent with denervation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750573&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750573</a>]</span><br />
|
|
|
|
</span>
|
|
</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">
|
|
|
|
- Ataxia, episodic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/421455009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">421455009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1720189&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1720189</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002131" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002131</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
|
|
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
|
|
Slurred speech <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289195008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289195008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R47.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R47.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234518</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001350" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001350</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001350" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001350</a>]</span><br /> -
|
|
Dizziness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404640003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404640003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399153001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399153001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399090003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399090003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0012833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0012833</a>, <a href="https://bioportal.bioontology.org/search?q=C0042571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042571</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002321</a>]</span><br /> -
|
|
Incoordination of the hands <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549898&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549898</a>]</span><br /> -
|
|
Leg stiffness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969552</a>]</span><br /> -
|
|
Spastic gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9447003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9447003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R26.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R26.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231687</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002064</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002064</a>]</span><br /> -
|
|
Coarse tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78261002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78261002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234374&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234374</a>]</span><br /> -
|
|
Headache <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25064002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25064002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R51.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R51</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/784.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002315</a>]</span><br /> -
|
|
Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
|
|
Extensor plantar responses (reported in 1 family) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246586009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246586009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366575004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366575004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Peripheral Nervous System </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
|
- Myokymia, interictal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3549899&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3549899</a>]</span><br /> -
|
|
Jerking movements of face and limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834560&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834560</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
|
- Increased serum creatine kinase during episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969554</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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|
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<div>
|
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<span class="mim-font">
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|
|
- Onset in childhood<br /> -
|
|
Highly variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
|
|
Symptoms precipitated by sudden movement, stress, exertion, fatigue, illness<br /> -
|
|
Typical attacks last from seconds to minutes, but longer occurrences have been reported<br /> -
|
|
Aura may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838056&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838056</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18618006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18618006</a>]</span><br /> -
|
|
Some patients may develop interictal progressive ataxia<br /> -
|
|
Variable response to acetazolamide and carbamazepine<br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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|
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<div>
|
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<span class="mim-font">
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|
|
- Caused by mutation in the potassium voltage-gated channel, shaker-related subfamily, member 1 gene (KCNA1, <a href="/entry/176260#0001">176260.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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|
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Episodic ataxia
|
|
- <a href="/phenotypicSeries/PS160120">PS160120</a>
|
|
- 9 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<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/1/189?start=-3&limit=10&highlight=189"> 1p36.13-p34.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616055"> Episodic ataxia, type 8 </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/616055"> 616055 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616055"> EA8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616055"> 616055 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1737?start=-3&limit=10&highlight=1737"> 1q42 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606554"> Episodic ataxia, type 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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606554"> 606554 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606554"> EA3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606554"> 606554 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/690?start=-3&limit=10&highlight=690"> 2q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613855"> ?Episodic ataxia, type 5 </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/613855"> 613855 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601949"> CACNB4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601949"> 601949 </a>
|
|
</span>
|
|
</td>
|
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</tr>
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<a href="/entry/618924"> Episodic ataxia, type 9 </a>
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<a href="/entry/612656"> Episodic ataxia, type 6 </a>
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<a href="/entry/160120"> Episodic ataxia/myokymia syndrome </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/108500"> Episodic ataxia, type 2 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/108500"> 108500 </a>
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<a href="/entry/601011"> CACNA1A </a>
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<a href="/entry/601011"> 601011 </a>
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<a href="/entry/611907"> Episodic ataxia, type 7 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/611907"> 611907 </a>
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<a href="/entry/611907"> EA7 </a>
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<span class="mim-font">
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<a href="/entry/611907"> 611907 </a>
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Not Mapped
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<span class="mim-font">
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<a href="/entry/606552"> Episodic ataxia, type 4 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<span class="mim-font">
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<a href="/entry/606552"> 606552 </a>
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<span class="mim-font">
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<a href="/entry/606552"> EA4 </a>
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<span class="mim-font">
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<a href="/entry/606552"> 606552 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because episodic ataxia-1 (EA1) is caused by heterozygous mutation in the potassium channel gene KCNA1 (<a href="/entry/176260">176260</a>) on chromosome 12p13.</p>
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<strong>Description</strong>
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<p>Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (<a href="#13" class="mim-tip-reference" title="Jen, J. C., Graves, T. D., Hess, E. J., Hanna, M. G., Griggs, R. C., Baloh, R. W., CINCH Investigators. <strong>Primary episodic ataxias: diagnosis, pathogenesis and treatment.</strong> Brain 130: 2484-2493, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17575281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17575281</a>] [<a href="https://doi.org/10.1093/brain/awm126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17575281">Jen et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17575281" 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 of Episodic Ataxia</em></strong></p><p>
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Episodic ataxia is a genetically heterogeneous disorder. See also EA2 (<a href="/entry/108500">108500</a>), caused by mutation in the CACNA1A gene (<a href="/entry/601011">601011</a>) on chromosome 19p13; EA3 (<a href="/entry/606554">606554</a>), which maps to chromosome 1q42; EA4 (<a href="/entry/606552">606552</a>); EA5, caused by mutation in the CACNB4 gene (<a href="/entry/601949">601949</a>) on chromosome 2q22-q23; EA6 (<a href="/entry/612656">612656</a>), caused by mutation in the SLC1A3 gene (<a href="/entry/600111">600111</a>) on chromosome 5p13; EA7 (<a href="/entry/611907">611907</a>), which maps to chromosome 19q13; EA8 (<a href="/entry/616055">616055</a>), which maps to chromosome 1p36-p34; and EA9 (<a href="/entry/618924">618924</a>), caused by mutation in the SCN2A gene (<a href="/entry/182390">182390</a>) on chromosome 2q24.</p><p>Isolated myokymia-2 (see <a href="/entry/121200">121200</a>) is associated with mutation in the KCNQ2 gene (<a href="/entry/602235">602235</a>).</p>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p><a href="#21" class="mim-tip-reference" title="VanDyke, D. H., Griggs, R. C., Murphy, M. J., Goldstein, M. N. <strong>Hereditary myokymia and periodic ataxia.</strong> J. Neurol. Sci. 25: 109-118, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1170284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1170284</a>] [<a href="https://doi.org/10.1016/0022-510x(75)90191-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1170284">VanDyke et al. (1975)</a> described a kindred in which 11 persons in 3 consecutive generations had continuous muscle movement (myokymia) and periodic ataxia. Only 2 of the 11 affected were male and no male-to-male transmission was noted. Indeed, neither affected male had children. The disorder presented in early childhood with attacks of ataxia of 1 to 2 minutes in duration, with associated jerking movements of the head, arms, and legs. Attacks were provoked by abrupt postural change, emotional stimulus, and caloric-vestibular stimulation. Myokymia of the face and limbs began at about age 12 years. Physical findings included large calves, normal muscle strength, and widespread myokymia of face, hands, arms, and legs, with a hand posture resembling carpopedal spasm. EMG at rest showed continuous spontaneous activity. Gastrocnemius biopsy showed changes consistent with denervation, as well as enlargement of muscle fibers. The same disorder was reported in 2 other families (<a href="#10" class="mim-tip-reference" title="Hanson, P. A., Martinez, L. B., Cassidy, R. <strong>Contractures, continuous muscle discharges, and titubation.</strong> Ann. Neurol. 1: 120-124, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/889293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">889293</a>] [<a href="https://doi.org/10.1002/ana.410010203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="889293">Hanson et al., 1977</a>; <a href="#7" class="mim-tip-reference" title="Gancher, S. T., Nutt, J. G. <strong>Autosomal dominant episodic ataxia: a heterogeneous syndrome.</strong> Movement Disorders 1: 239-253, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3504247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3504247</a>] [<a href="https://doi.org/10.1002/mds.870010404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3504247">Gancher and Nutt, 1986</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3504247+1170284+889293" 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="Brunt, E. R. P., van Weerden, T. W. <strong>Familial paroxysmal kinesigenic ataxia and continuous myokymia.</strong> Brain 113: 1361-1382, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2245301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2245301</a>] [<a href="https://doi.org/10.1093/brain/113.5.1361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2245301">Brunt and van Weerden (1990)</a> described a large family with paroxysmal ataxia and continuous myokymic discharges. There was at least 1 instance of male-to-male transmission. Often a postural tremor of the head and hands and fine twitching in the face and hand muscles were present. The attacks, which usually lasted a few minutes, might occur several times a day. They first appeared in childhood and tended to abate after early adulthood. The attacks were frequently precipitated by kinesigenic stimuli similar to the phenomenon observed in paroxysmal kinesigenic choreoathetosis (<a href="/entry/128200">128200</a>). In about half the adults, fine rippling myokymia could be detected on close inspection; in a few, it was obvious. <a href="#4" class="mim-tip-reference" title="Brunt, E. R. P., van Weerden, T. W. <strong>Familial paroxysmal kinesigenic ataxia and continuous myokymia.</strong> Brain 113: 1361-1382, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2245301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2245301</a>] [<a href="https://doi.org/10.1093/brain/113.5.1361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2245301">Brunt and van Weerden (1990)</a> concluded that the myokymic activity resulted from multiple impulse generation in peripheral nerves. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2245301" 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="#20" class="mim-tip-reference" title="Vaamonde, J., Artieda, J., Obeso, J. A. <strong>Hereditary paroxysmal ataxia with neuromyotonia.</strong> Movement Disorders 6: 180-182, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1647493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1647493</a>] [<a href="https://doi.org/10.1002/mds.870060218" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1647493">Vaamonde et al. (1991)</a> described the disorder in a 26-year-old woman who had had episodic unsteadiness lasting for a few minutes since the age of 6 years. The mother and 1 sister were identically affected. Electromyographic studies revealed myokymia (neuromyotonia). Phenytoin produced good control of the symptoms but acetazolamide was ineffective. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1647493" 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="Lubbers, W. J., Brunt, E. R. P., Scheffer, H., Litt, M., Stulp, R., Browne, D. L., van Weerden, T. W. <strong>Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.</strong> J. Neurol. Neurosurg. Psychiat. 59: 400-405, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7561920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7561920</a>] [<a href="https://doi.org/10.1136/jnnp.59.4.400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7561920">Lubbers et al. (1995)</a> studied 6 affected individuals in a 4-generation pedigree in which paroxysmal ataxia and myokymia were linked to markers on chromosome 12p in affected individuals who demonstrated kinesigenic provocation, attacks being brought on by repeat knee bends or sudden rising from a chair. Myokymic discharges were invariably demonstrable electromyographically, although not all affected members showed clinical myokymia. One affected family member also had attacks of paroxysmal kinesigenic choreoathetosis (see <a href="/entry/601042">601042</a> for kinesigenic choreoathetosis that has been mapped to chromosome 1p). Members of Lubbers' kindred responded to low doses of acetazolamide, although there was some loss of efficacy after prolonged treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7561920" 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="#9" class="mim-tip-reference" title="Graves, T. D., Rajakulendran, S., Zuberi, S. M., Morris, H. R., Schorge, S., Hanna, M. G., Kullmann, D. M. <strong>Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.</strong> Neurology 75: 367-372, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20660867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20660867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20660867[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181ea9ee3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20660867">Graves et al. (2010)</a> reported 2 unrelated sets of monozygotic twins with genetically confirmed EA1 who showed remarkably different phenotypes. In the first family, twin sisters had onset of symptoms at ages 14 and 16 years, respectively. One sister had daily episodes lasting from 10 to 15 minutes and required maintenance on carbamazepine, whereas her twin had a less severe phenotype with weekly episodes lasting 5 to 10 minutes and did not require medication. Both had dizziness, slurred speech, and incoordination of the hands during attacks, but the more severely affected sister also had unsteady gait, weakness, and myokymia. In the second family, 1 twin brother had onset at age 1 year of weekly episodes lasting seconds to 10 minutes; medication was not required. His twin brother had onset at age 6 years of daily episodes lasting seconds to 3 minutes; carbamazepine was not effective. The attacks in both brothers were characterized by imbalance, weakness, blurred vision, slurred speech, myokymia, and incoordination of the hands. These symptoms were less severe in the first brother, although he had associated vertigo, headache, and nausea. Their affected mother had a progressive interictal cerebellar syndrome with ataxia and dysarthria. The report indicated that nongenetic factors play a role in the severity of EA1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20660867" 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>Isolated Myokymia</em></strong></p><p>
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Isolated spontaneous muscle twitches occur in many persons and have no grave significance. <a href="#22" class="mim-tip-reference" title="Wieczorek, V., Greger, J. <strong>Ueber ein familiaer gehaeuftes Vorkommen von Myokymie.</strong> Psychiat. Neurol. Med. Psychol. 14: 452-455, 1962."None>Wieczorek and Greger (1962)</a> described a dominant pedigree with myokymia. <a href="#19" class="mim-tip-reference" title="Sheaff, H. M. <strong>Hereditary myokymia. Syndrome or disease entity associated with hypoglycemia and disturbed thyroid function.</strong> Arch. Neurol. Psychiat. 68: 236-247, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14943316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14943316</a>]" pmid="14943316">Sheaff (1952)</a> observed myokymia in a man and his 4 sons. In a portion of muscle removed for biopsy, fasciculations persisted for 8 minutes. Affected persons probably have an increased frequency of muscle cramps ('night cramps'). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14943316" 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 syndrome of continuous muscle fiber activity was described by <a href="#1" class="mim-tip-reference" title="Ashizawa, T., Butler, I. J., Harati, Y., Roongta, S. M. <strong>A dominantly inherited syndrome with continuous motor neuron discharges.</strong> Ann. Neurol. 13: 285-290, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6847141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6847141</a>] [<a href="https://doi.org/10.1002/ana.410130310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6847141">Ashizawa et al. (1983)</a>. Cerebrospinal fluid levels of homovanillic acid and 5-hydroxyindoleacetic acid were increased in the proband. Referred to as continuous motor neuron discharge, the disorder was present in 7 members of 3 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6847141" 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="#17" class="mim-tip-reference" title="McGuire, S. A., Tomasovic, J. J., Ackerman, N., Jr. <strong>Hereditary continuous muscle fiber activity.</strong> Arch. Neurol. 41: 395-396, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6703941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6703941</a>] [<a href="https://doi.org/10.1001/archneur.1984.04050160057016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6703941">McGuire et al. (1984)</a> described the syndrome of continuous muscle fiber activity in a 3-year-old boy and his 28-year-old mother. The boy had shown persistent fisting from the age of 4 months. Previously the family had observed diminished spontaneous motor activity with flexion contractures of the lower limbs. Cardiopulmonary studies, prompted by recurrent episodes of peripheral cyanosis, showed eventration of both diaphragms with poor motion. Increased muscle tone and stiffness persisted during sleep. EMG showed continuous motor unit activity which continued despite peripheral nerve blockade or general anesthesia. Phenytoin sodium effected 'considerable improvement.' The cyanotic episodes disappeared after plication of the diaphragms and phenytoin therapy. The mother had demonstrated persistent stiffness and fisting in early childhood. No form of medication was beneficial until phenytoin was given at age 8 for suspected seizures. She was still taking phenytoin at age 28 and showed toxic effects with a serum level of 36 mg/L. With decreased dosage, serpentine movements of the fingers and lower eyelids appeared. After discontinuation of phenytoin, myokymia continued in sleep and transient stiffness developed after initiation of movements. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6703941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Chen, H., von Hehn, C., Kaczmarek, L. K., Ment, L. R., Pober, B. R., Hisama, F. M. <strong>Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.</strong> Neurogenetics 8: 131-135, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17136396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17136396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17136396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10048-006-0071-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17136396">Chen et al. (2007)</a> reported a family in which a mother and 3 sons had isolated myokymia without epilepsy or episodic ataxia. The proband was a 13-year-old boy who was diagnosed with cerebral palsy due to leg stiffness and showed delayed walking at age 18 months. At age 4 years, he was hospitalized with increasing leg pain, stiffness, and inability to walk during a flu-like illness. Serum creatine kinase was elevated during the acute attack. Examination showed periorbital myokymia, spastic gait, hyperreflexia, and extensor plantar responses. EMG studies showed continuous motor unit discharges. His mother and 2 affected brothers showed a similar phenotype; 3 of the patients also had esotropia. The 3 brothers were asymptomatic with carbamazepine treatment. Genetic studies identified a heterozygous mutation in the KCNA1 gene (<a href="/entry/176260#0014">176260.0014</a>) that segregated with the disorder. <a href="#5" class="mim-tip-reference" title="Chen, H., von Hehn, C., Kaczmarek, L. K., Ment, L. R., Pober, B. R., Hisama, F. M. <strong>Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.</strong> Neurogenetics 8: 131-135, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17136396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17136396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17136396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10048-006-0071-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17136396">Chen et al. (2007)</a> noted that patients in this family showed unusual features, such as extensor plantar responses suggestive of corticospinal tract involvement and worsening of symptoms with febrile illness or anesthesia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17136396" 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>Association With Hypomagnesemia</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Glaudemans, B., van der Wijst, J., Scola, R. H., Lorenzoni, P. J., Heister, A., van der Kemp, A. W., Knoers, N. V., Hoenderop, J. G., Bindels, R. J. <strong>A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.</strong> J. Clin. Invest. 119: 936-942, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19307729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19307729</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19307729[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI36948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19307729">Glaudemans et al. (2009)</a> studied a large 5-generation Brazilian family segregating autosomal dominant hypomagnesemia, in which 21 of 46 family members were affected. Beginning in infancy, the proband had recurrent muscle cramps, tetanic episodes, tremor, and muscle weakness, especially in the distal limbs. The proband reported several episodes during which she was 'not able to walk straight,' but no objective clinical signs of cerebellar dysfunction were apparent on examination; cerebral MRI showed slight atrophy of the cerebellar vermis. A younger brother had died in infancy from a severe attack of cramps and tetany, during which time his serum magnesium was as low as 0.28 mmol/l. Serum electrolyte levels measured during severe episodes of cramps and tetany in 2 affected family members revealed low serum magnesium with normal calcium and potassium concentrations; urinary magnesium excretion was normal, suggesting impaired tubular magnesium reabsorption, and urinary calcium excretion was normal. During the course of the study, the proband was hospitalized due to a sudden episode of facial myokymia, tremor, severe muscle spasms, muscular pain, cramps, muscular weakness, and intermittent tetanic contraction, all of which improved shortly after intravenous magnesium administration. Electromyographs of some affected family members showed myokymic discharge. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19307729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of EA1 in the families reported by <a href="#3" class="mim-tip-reference" title="Browne, D. L., Gancher, S. T., Nutt, J. G., Brunt, E. R. P., Smith, E. A., Kramer, P., Litt, M. <strong>Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.</strong> Nature Genet. 8: 136-140, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7842011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7842011</a>] [<a href="https://doi.org/10.1038/ng1094-136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7842011">Browne et al. (1994)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7842011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a group of Genethon markers from a region of 12p carrying the potassium channel genes, Litt et al. (<a href="#15" class="mim-tip-reference" title="Litt, M., Kramer, P., Phromchotikul, T., Gancher, S. T., Nutt, J. G. <strong>A gene for autosomal dominant episodic ataxia/myokymia maps to chromosome 12p. (Abstract)</strong> Am. J. Hum. Genet. 53 (suppl.): A1036, 1993."None>1993</a>, <a href="#14" class="mim-tip-reference" title="Litt, M., Kramer, P., Browne, D., Gancher, S., Brunt, E. R. P., Root, D., Phromchotikul, T., Dubay, C. J., Nutt, J. <strong>A gene for episodic ataxia/myokymia maps to chromosome 12p13.</strong> Am. J. Hum. Genet. 55: 702-709, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942848</a>]" pmid="7942848">1994</a>) demonstrated linkage in 4 AEMK kindreds. A maximum combined lod score of 13.6 was obtained with the marker D12S99 at theta = 0. They were prompted to study linkage to this region because potassium channel genes, e.g., KCNA1 and KCNA2 (<a href="/entry/176262">176262</a>), mapped there. The KCNA5 gene (<a href="/entry/176267">176267</a>) also maps to that region but was ruled out as the site of the defect by the observation of a single crossover between the disease gene and a (CA)n repeat marker in the KCNA5 cosmid. Studies of a large episodic ataxia family with a clinical phenotype that lacks myokymia but is associated with nystagmus (<a href="/entry/108500">108500</a>) excluded the gene causing that disease from the chromosome 12p region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7942848" 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 5-generation Brazilian family segregating autosomal dominant hypomagnesemia and myokymia, <a href="#8" class="mim-tip-reference" title="Glaudemans, B., van der Wijst, J., Scola, R. H., Lorenzoni, P. J., Heister, A., van der Kemp, A. W., Knoers, N. V., Hoenderop, J. G., Bindels, R. J. <strong>A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.</strong> J. Clin. Invest. 119: 936-942, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19307729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19307729</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19307729[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI36948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19307729">Glaudemans et al. (2009)</a> performed SNP-based linkage analysis that identified a 14.3-cM locus on chromosome 12q. Fine mapping with microsatellite markers narrowed the region of interest to an 11.6-cM interval between D12S1626 and D12S1623, with a maximum multipoint lod score of 3.0. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19307729" 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><a href="#3" class="mim-tip-reference" title="Browne, D. L., Gancher, S. T., Nutt, J. G., Brunt, E. R. P., Smith, E. A., Kramer, P., Litt, M. <strong>Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.</strong> Nature Genet. 8: 136-140, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7842011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7842011</a>] [<a href="https://doi.org/10.1038/ng1094-136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7842011">Browne et al. (1994)</a> demonstrated mutations in the KCNA1 gene in 4 families with AEMK (<a href="/entry/176260#0001">176260.0001</a>-<a href="/entry/176260#0004">176260.0004</a>). A different missense point mutation was present in heterozygous state in each. All affected individuals are heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7842011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 families with myokymia without ataxic episodes, <a href="#6" class="mim-tip-reference" title="Eunson, L. H., Rea, R., Zuberi, S. M., Youroukos, S., Panayiotopoulos, C. P., Liguori, R., Avoni, P., McWilliam, R. C., Stephenson, J. B. P., Hanna, M. G., Kullmann, D. M., Spauschus, A. <strong>Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.</strong> Ann. Neurol. 48: 647-656, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11026449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11026449</a>]" pmid="11026449">Eunson et al. (2000)</a> identified mutations in the KCNA1 gene (<a href="/entry/176260#0010">176260.0010</a>-<a href="/entry/176260#0011">176260.0011</a>). One of these families also segregated seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11026449" 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 5-generation Brazilian family segregating autosomal dominant hypomagnesemia and myokymia mapping to chromosome 12q, <a href="#8" class="mim-tip-reference" title="Glaudemans, B., van der Wijst, J., Scola, R. H., Lorenzoni, P. J., Heister, A., van der Kemp, A. W., Knoers, N. V., Hoenderop, J. G., Bindels, R. J. <strong>A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.</strong> J. Clin. Invest. 119: 936-942, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19307729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19307729</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19307729[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI36948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19307729">Glaudemans et al. (2009)</a> identified a heterozygous missense mutation in the KCNA1 gene (N255D; <a href="/entry/176250#0015">176250.0015</a>) that segregated with the disease and was not found in 100 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19307729" 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>Reviews</em></strong></p><p>
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For a comprehensive review of episodic ataxia type 1 and its causative mutations, see <a href="#2" class="mim-tip-reference" title="Brandt, T., Strupp, M. <strong>Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).</strong> Audiol. Neurootol. 2: 373-383, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9390841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9390841</a>] [<a href="https://doi.org/10.1159/000259262" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9390841">Brandt and Strupp (1997)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9390841" 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="Jen, J. C., Graves, T. D., Hess, E. J., Hanna, M. G., Griggs, R. C., Baloh, R. W., CINCH Investigators. <strong>Primary episodic ataxias: diagnosis, pathogenesis and treatment.</strong> Brain 130: 2484-2493, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17575281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17575281</a>] [<a href="https://doi.org/10.1093/brain/awm126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17575281">Jen et al. (2007)</a> provided a detailed review of the pathophysiology and molecular genetics of known episodic ataxia syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17575281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using homologous recombination, <a href="#11" class="mim-tip-reference" title="Herson, P. S., Virk, M., Rustay, N. R., Bond, C. T., Crabbe, J. C., Adelman, J. P., Maylie, J. <strong>A mouse model of episodic ataxia type-1.</strong> Nature Neurosci. 6: 378-383, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12612586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12612586</a>] [<a href="https://doi.org/10.1038/nn1025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12612586">Herson et al. (2003)</a> introduced the Kcna1 val408-to-ala mutation (V408A; <a href="/entry/176260#0001">176260.0001</a>) into mice. In contrast to Kcna1 null mice, homozygous V408A mice died after embryonic day 3, consistent with V408A being a homozygous lethal allele. V408A heterozygous mice showed stress-induced loss of motor coordination that was ameliorated by acetazolamide, similar to patients with EA1. Cerebellar Purkinje cells from V408A heterozygous mice showed a greater frequency and amplitude of spontaneous GABAergic inhibitory postsynaptic currents than did wildtype. The authors noted that Kcna1 is localized to GABAergic interneurons in the cerebellum, suggesting that it may be important for regulating GABA release, and that mutations in the gene may alter excitability in the cerebellum, leading to clinical symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12612586" 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 href="#Isaacs1961" class="mim-tip-reference" title="Isaacs, H. <strong>A syndrome of continuous muscle fiber activity.</strong> J. Neurol. Neurosurg. Psychiat. 24: 319-325, 1961.">Isaacs (1961)</a>; <a href="#Mertens1965" class="mim-tip-reference" title="Mertens, H. G., Zschocke, S. <strong>Neuromyotonia.</strong> Klin. Wschr. 43: 917-925, 1965.">Mertens and Zschocke (1965)</a>
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Ashizawa, T., Butler, I. J., Harati, Y., Roongta, S. M.
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<strong>A dominantly inherited syndrome with continuous motor neuron discharges.</strong>
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Ann. Neurol. 13: 285-290, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6847141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6847141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6847141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410130310" target="_blank">Full Text</a>]
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Brandt, T., Strupp, M.
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<strong>Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).</strong>
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Audiol. Neurootol. 2: 373-383, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9390841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9390841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9390841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000259262" target="_blank">Full Text</a>]
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Browne, D. L., Gancher, S. T., Nutt, J. G., Brunt, E. R. P., Smith, E. A., Kramer, P., Litt, M.
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<strong>Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.</strong>
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Nature Genet. 8: 136-140, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7842011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7842011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7842011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1094-136" target="_blank">Full Text</a>]
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Brunt, E. R. P., van Weerden, T. W.
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<strong>Familial paroxysmal kinesigenic ataxia and continuous myokymia.</strong>
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Brain 113: 1361-1382, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2245301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2245301</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2245301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/113.5.1361" target="_blank">Full Text</a>]
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Chen, H., von Hehn, C., Kaczmarek, L. K., Ment, L. R., Pober, B. R., Hisama, F. M.
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<strong>Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.</strong>
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Neurogenetics 8: 131-135, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17136396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17136396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17136396[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=17136396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Eunson, L. H., Rea, R., Zuberi, S. M., Youroukos, S., Panayiotopoulos, C. P., Liguori, R., Avoni, P., McWilliam, R. C., Stephenson, J. B. P., Hanna, M. G., Kullmann, D. M., Spauschus, A.
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<strong>Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.</strong>
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Ann. Neurol. 48: 647-656, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11026449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11026449</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11026449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gancher, S. T., Nutt, J. G.
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<strong>Autosomal dominant episodic ataxia: a heterogeneous syndrome.</strong>
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Movement Disorders 1: 239-253, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3504247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3504247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3504247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mds.870010404" target="_blank">Full Text</a>]
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Glaudemans, B., van der Wijst, J., Scola, R. H., Lorenzoni, P. J., Heister, A., van der Kemp, A. W., Knoers, N. V., Hoenderop, J. G., Bindels, R. J.
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<strong>A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.</strong>
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J. Clin. Invest. 119: 936-942, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19307729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19307729</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19307729[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=19307729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI36948" target="_blank">Full Text</a>]
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Graves, T. D., Rajakulendran, S., Zuberi, S. M., Morris, H. R., Schorge, S., Hanna, M. G., Kullmann, D. M.
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<strong>Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.</strong>
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Neurology 75: 367-372, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20660867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20660867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20660867[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=20660867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e3181ea9ee3" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Hanson1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hanson, P. A., Martinez, L. B., Cassidy, R.
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<strong>Contractures, continuous muscle discharges, and titubation.</strong>
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Ann. Neurol. 1: 120-124, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/889293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">889293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=889293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.410010203" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Herson2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Herson, P. S., Virk, M., Rustay, N. R., Bond, C. T., Crabbe, J. C., Adelman, J. P., Maylie, J.
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<strong>A mouse model of episodic ataxia type-1.</strong>
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Nature Neurosci. 6: 378-383, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12612586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12612586</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12612586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nn1025" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Isaacs1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Isaacs, H.
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<strong>A syndrome of continuous muscle fiber activity.</strong>
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J. Neurol. Neurosurg. Psychiat. 24: 319-325, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21610902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21610902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21610902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jnnp.24.4.319" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Jen2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jen, J. C., Graves, T. D., Hess, E. J., Hanna, M. G., Griggs, R. C., Baloh, R. W., CINCH Investigators.
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<strong>Primary episodic ataxias: diagnosis, pathogenesis and treatment.</strong>
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Brain 130: 2484-2493, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17575281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17575281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17575281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awm126" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Litt1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Litt, M., Kramer, P., Browne, D., Gancher, S., Brunt, E. R. P., Root, D., Phromchotikul, T., Dubay, C. J., Nutt, J.
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<strong>A gene for episodic ataxia/myokymia maps to chromosome 12p13.</strong>
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Am. J. Hum. Genet. 55: 702-709, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7942848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7942848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7942848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Litt1993" class="mim-anchor"></a>
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<p class="mim-text-font">
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Litt, M., Kramer, P., Phromchotikul, T., Gancher, S. T., Nutt, J. G.
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<strong>A gene for autosomal dominant episodic ataxia/myokymia maps to chromosome 12p. (Abstract)</strong>
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Am. J. Hum. Genet. 53 (suppl.): A1036, 1993.
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<a id="16" class="mim-anchor"></a>
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<a id="Lubbers1995" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lubbers, W. J., Brunt, E. R. P., Scheffer, H., Litt, M., Stulp, R., Browne, D. L., van Weerden, T. W.
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<strong>Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.</strong>
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J. Neurol. Neurosurg. Psychiat. 59: 400-405, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7561920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7561920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7561920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jnnp.59.4.400" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="McGuire1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McGuire, S. A., Tomasovic, J. J., Ackerman, N., Jr.
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<strong>Hereditary continuous muscle fiber activity.</strong>
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Arch. Neurol. 41: 395-396, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6703941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6703941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6703941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1984.04050160057016" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Mertens1965" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mertens, H. G., Zschocke, S.
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<strong>Neuromyotonia.</strong>
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Klin. Wschr. 43: 917-925, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5863557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5863557</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5863557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01712058" target="_blank">Full Text</a>]
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Sheaff1952" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sheaff, H. M.
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<strong>Hereditary myokymia. Syndrome or disease entity associated with hypoglycemia and disturbed thyroid function.</strong>
|
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Arch. Neurol. Psychiat. 68: 236-247, 1952.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14943316/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14943316</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14943316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Vaamonde1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vaamonde, J., Artieda, J., Obeso, J. A.
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<strong>Hereditary paroxysmal ataxia with neuromyotonia.</strong>
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Movement Disorders 6: 180-182, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1647493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1647493</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1647493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mds.870060218" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
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<a id="VanDyke1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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VanDyke, D. H., Griggs, R. C., Murphy, M. J., Goldstein, M. N.
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<strong>Hereditary myokymia and periodic ataxia.</strong>
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J. Neurol. Sci. 25: 109-118, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1170284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1170284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1170284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-510x(75)90191-4" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Wieczorek1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wieczorek, V., Greger, J.
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<strong>Ueber ein familiaer gehaeuftes Vorkommen von Myokymie.</strong>
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Psychiat. Neurol. Med. Psychol. 14: 452-455, 1962.
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/10/2011
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/4/2009<br>Marla J. F. O'Neill - updated : 9/11/2009<br>Cassandra L. Kniffin - updated : 5/2/2007<br>Cassandra L. Kniffin - updated : 3/18/2003<br>Cassandra L. Kniffin - updated : 2/21/2003<br>Ada Hamosh - updated : 8/12/1998<br>Orest Hurko - updated : 4/1/1996<br>Orest Hurko - updated : 3/6/1996
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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alopez : 04/09/2024
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alopez : 07/08/2020<br>ckniffin : 06/30/2020<br>carol : 07/05/2017<br>carol : 10/16/2014<br>ckniffin : 10/14/2014<br>carol : 4/29/2014<br>wwang : 5/23/2011<br>ckniffin : 5/10/2011<br>terry : 9/7/2010<br>wwang : 11/18/2009<br>ckniffin : 11/4/2009<br>carol : 9/11/2009<br>wwang : 3/24/2009<br>ckniffin : 3/12/2009<br>wwang : 4/14/2008<br>ckniffin : 4/1/2008<br>wwang : 3/31/2008<br>ckniffin : 3/21/2008<br>wwang : 5/11/2007<br>ckniffin : 5/2/2007<br>carol : 12/22/2005<br>carol : 11/29/2005<br>ckniffin : 11/16/2005<br>tkritzer : 4/7/2003<br>ckniffin : 3/18/2003<br>carol : 2/21/2003<br>carol : 2/21/2003<br>ckniffin : 2/21/2003<br>alopez : 12/12/2001<br>alopez : 12/11/2001<br>alopez : 12/11/2001<br>terry : 12/5/2001<br>carol : 8/12/1998<br>carol : 5/16/1998<br>terry : 4/15/1996<br>mark : 4/2/1996<br>terry : 4/1/1996<br>terry : 3/22/1996<br>mark : 3/6/1996<br>terry : 2/23/1996<br>mark : 6/29/1995<br>mimadm : 12/2/1994<br>carol : 11/16/1994<br>terry : 10/26/1994<br>carol : 12/20/1993<br>carol : 12/2/1993
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<strong>#</strong> 160120
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<h3>
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<span class="mim-font">
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EPISODIC ATAXIA, TYPE 1; EA1
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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EPISODIC ATAXIA WITH MYOKYMIA; EAM<br />
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ATAXIA, EPISODIC, WITH MYOKYMIA; AEM; AEMK<br />
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PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY<br />
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MYOKYMIA WITH PERIODIC ATAXIA
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<span class="mim-font">
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Other entities represented in this entry:
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<span class="h3 mim-font">
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MYOKYMIA 1, INCLUDED
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<span class="h4 mim-font">
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CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY, INCLUDED<br />
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ISAACS-MERTENS SYNDROME, INCLUDED<br />
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MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA, INCLUDED
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<strong>SNOMEDCT:</strong> 421182009;
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<strong>ORPHA:</strong> 37612, 972;
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<strong>DO:</strong> 0050989;
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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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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<tbody>
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<span class="mim-font">
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12p13.32
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</td>
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<td>
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<span class="mim-font">
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Episodic ataxia/myokymia syndrome
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</td>
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<span class="mim-font">
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160120
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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</td>
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<td>
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<span class="mim-font">
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KCNA1
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</span>
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</td>
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<td>
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<span class="mim-font">
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176260
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because episodic ataxia-1 (EA1) is caused by heterozygous mutation in the potassium channel gene KCNA1 (176260) on chromosome 12p13.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). </p><p><strong><em>Genetic Heterogeneity of Episodic Ataxia</em></strong></p><p>
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Episodic ataxia is a genetically heterogeneous disorder. See also EA2 (108500), caused by mutation in the CACNA1A gene (601011) on chromosome 19p13; EA3 (606554), which maps to chromosome 1q42; EA4 (606552); EA5, caused by mutation in the CACNB4 gene (601949) on chromosome 2q22-q23; EA6 (612656), caused by mutation in the SLC1A3 gene (600111) on chromosome 5p13; EA7 (611907), which maps to chromosome 19q13; EA8 (616055), which maps to chromosome 1p36-p34; and EA9 (618924), caused by mutation in the SCN2A gene (182390) on chromosome 2q24.</p><p>Isolated myokymia-2 (see 121200) is associated with mutation in the KCNQ2 gene (602235).</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<p>VanDyke et al. (1975) described a kindred in which 11 persons in 3 consecutive generations had continuous muscle movement (myokymia) and periodic ataxia. Only 2 of the 11 affected were male and no male-to-male transmission was noted. Indeed, neither affected male had children. The disorder presented in early childhood with attacks of ataxia of 1 to 2 minutes in duration, with associated jerking movements of the head, arms, and legs. Attacks were provoked by abrupt postural change, emotional stimulus, and caloric-vestibular stimulation. Myokymia of the face and limbs began at about age 12 years. Physical findings included large calves, normal muscle strength, and widespread myokymia of face, hands, arms, and legs, with a hand posture resembling carpopedal spasm. EMG at rest showed continuous spontaneous activity. Gastrocnemius biopsy showed changes consistent with denervation, as well as enlargement of muscle fibers. The same disorder was reported in 2 other families (Hanson et al., 1977; Gancher and Nutt, 1986). </p><p>Brunt and van Weerden (1990) described a large family with paroxysmal ataxia and continuous myokymic discharges. There was at least 1 instance of male-to-male transmission. Often a postural tremor of the head and hands and fine twitching in the face and hand muscles were present. The attacks, which usually lasted a few minutes, might occur several times a day. They first appeared in childhood and tended to abate after early adulthood. The attacks were frequently precipitated by kinesigenic stimuli similar to the phenomenon observed in paroxysmal kinesigenic choreoathetosis (128200). In about half the adults, fine rippling myokymia could be detected on close inspection; in a few, it was obvious. Brunt and van Weerden (1990) concluded that the myokymic activity resulted from multiple impulse generation in peripheral nerves. </p><p>Vaamonde et al. (1991) described the disorder in a 26-year-old woman who had had episodic unsteadiness lasting for a few minutes since the age of 6 years. The mother and 1 sister were identically affected. Electromyographic studies revealed myokymia (neuromyotonia). Phenytoin produced good control of the symptoms but acetazolamide was ineffective. </p><p>Lubbers et al. (1995) studied 6 affected individuals in a 4-generation pedigree in which paroxysmal ataxia and myokymia were linked to markers on chromosome 12p in affected individuals who demonstrated kinesigenic provocation, attacks being brought on by repeat knee bends or sudden rising from a chair. Myokymic discharges were invariably demonstrable electromyographically, although not all affected members showed clinical myokymia. One affected family member also had attacks of paroxysmal kinesigenic choreoathetosis (see 601042 for kinesigenic choreoathetosis that has been mapped to chromosome 1p). Members of Lubbers' kindred responded to low doses of acetazolamide, although there was some loss of efficacy after prolonged treatment. </p><p>Graves et al. (2010) reported 2 unrelated sets of monozygotic twins with genetically confirmed EA1 who showed remarkably different phenotypes. In the first family, twin sisters had onset of symptoms at ages 14 and 16 years, respectively. One sister had daily episodes lasting from 10 to 15 minutes and required maintenance on carbamazepine, whereas her twin had a less severe phenotype with weekly episodes lasting 5 to 10 minutes and did not require medication. Both had dizziness, slurred speech, and incoordination of the hands during attacks, but the more severely affected sister also had unsteady gait, weakness, and myokymia. In the second family, 1 twin brother had onset at age 1 year of weekly episodes lasting seconds to 10 minutes; medication was not required. His twin brother had onset at age 6 years of daily episodes lasting seconds to 3 minutes; carbamazepine was not effective. The attacks in both brothers were characterized by imbalance, weakness, blurred vision, slurred speech, myokymia, and incoordination of the hands. These symptoms were less severe in the first brother, although he had associated vertigo, headache, and nausea. Their affected mother had a progressive interictal cerebellar syndrome with ataxia and dysarthria. The report indicated that nongenetic factors play a role in the severity of EA1. </p><p><strong><em>Isolated Myokymia</em></strong></p><p>
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Isolated spontaneous muscle twitches occur in many persons and have no grave significance. Wieczorek and Greger (1962) described a dominant pedigree with myokymia. Sheaff (1952) observed myokymia in a man and his 4 sons. In a portion of muscle removed for biopsy, fasciculations persisted for 8 minutes. Affected persons probably have an increased frequency of muscle cramps ('night cramps'). </p><p>A syndrome of continuous muscle fiber activity was described by Ashizawa et al. (1983). Cerebrospinal fluid levels of homovanillic acid and 5-hydroxyindoleacetic acid were increased in the proband. Referred to as continuous motor neuron discharge, the disorder was present in 7 members of 3 generations. </p><p>McGuire et al. (1984) described the syndrome of continuous muscle fiber activity in a 3-year-old boy and his 28-year-old mother. The boy had shown persistent fisting from the age of 4 months. Previously the family had observed diminished spontaneous motor activity with flexion contractures of the lower limbs. Cardiopulmonary studies, prompted by recurrent episodes of peripheral cyanosis, showed eventration of both diaphragms with poor motion. Increased muscle tone and stiffness persisted during sleep. EMG showed continuous motor unit activity which continued despite peripheral nerve blockade or general anesthesia. Phenytoin sodium effected 'considerable improvement.' The cyanotic episodes disappeared after plication of the diaphragms and phenytoin therapy. The mother had demonstrated persistent stiffness and fisting in early childhood. No form of medication was beneficial until phenytoin was given at age 8 for suspected seizures. She was still taking phenytoin at age 28 and showed toxic effects with a serum level of 36 mg/L. With decreased dosage, serpentine movements of the fingers and lower eyelids appeared. After discontinuation of phenytoin, myokymia continued in sleep and transient stiffness developed after initiation of movements. </p><p>Chen et al. (2007) reported a family in which a mother and 3 sons had isolated myokymia without epilepsy or episodic ataxia. The proband was a 13-year-old boy who was diagnosed with cerebral palsy due to leg stiffness and showed delayed walking at age 18 months. At age 4 years, he was hospitalized with increasing leg pain, stiffness, and inability to walk during a flu-like illness. Serum creatine kinase was elevated during the acute attack. Examination showed periorbital myokymia, spastic gait, hyperreflexia, and extensor plantar responses. EMG studies showed continuous motor unit discharges. His mother and 2 affected brothers showed a similar phenotype; 3 of the patients also had esotropia. The 3 brothers were asymptomatic with carbamazepine treatment. Genetic studies identified a heterozygous mutation in the KCNA1 gene (176260.0014) that segregated with the disorder. Chen et al. (2007) noted that patients in this family showed unusual features, such as extensor plantar responses suggestive of corticospinal tract involvement and worsening of symptoms with febrile illness or anesthesia. </p><p><strong><em>Association With Hypomagnesemia</em></strong></p><p>
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Glaudemans et al. (2009) studied a large 5-generation Brazilian family segregating autosomal dominant hypomagnesemia, in which 21 of 46 family members were affected. Beginning in infancy, the proband had recurrent muscle cramps, tetanic episodes, tremor, and muscle weakness, especially in the distal limbs. The proband reported several episodes during which she was 'not able to walk straight,' but no objective clinical signs of cerebellar dysfunction were apparent on examination; cerebral MRI showed slight atrophy of the cerebellar vermis. A younger brother had died in infancy from a severe attack of cramps and tetany, during which time his serum magnesium was as low as 0.28 mmol/l. Serum electrolyte levels measured during severe episodes of cramps and tetany in 2 affected family members revealed low serum magnesium with normal calcium and potassium concentrations; urinary magnesium excretion was normal, suggesting impaired tubular magnesium reabsorption, and urinary calcium excretion was normal. During the course of the study, the proband was hospitalized due to a sudden episode of facial myokymia, tremor, severe muscle spasms, muscular pain, cramps, muscular weakness, and intermittent tetanic contraction, all of which improved shortly after intravenous magnesium administration. Electromyographs of some affected family members showed myokymic discharge. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of EA1 in the families reported by Browne et al. (1994) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using a group of Genethon markers from a region of 12p carrying the potassium channel genes, Litt et al. (1993, 1994) demonstrated linkage in 4 AEMK kindreds. A maximum combined lod score of 13.6 was obtained with the marker D12S99 at theta = 0. They were prompted to study linkage to this region because potassium channel genes, e.g., KCNA1 and KCNA2 (176262), mapped there. The KCNA5 gene (176267) also maps to that region but was ruled out as the site of the defect by the observation of a single crossover between the disease gene and a (CA)n repeat marker in the KCNA5 cosmid. Studies of a large episodic ataxia family with a clinical phenotype that lacks myokymia but is associated with nystagmus (108500) excluded the gene causing that disease from the chromosome 12p region. </p><p>In a 5-generation Brazilian family segregating autosomal dominant hypomagnesemia and myokymia, Glaudemans et al. (2009) performed SNP-based linkage analysis that identified a 14.3-cM locus on chromosome 12q. Fine mapping with microsatellite markers narrowed the region of interest to an 11.6-cM interval between D12S1626 and D12S1623, with a maximum multipoint lod score of 3.0. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Browne et al. (1994) demonstrated mutations in the KCNA1 gene in 4 families with AEMK (176260.0001-176260.0004). A different missense point mutation was present in heterozygous state in each. All affected individuals are heterozygous. </p><p>In 2 families with myokymia without ataxic episodes, Eunson et al. (2000) identified mutations in the KCNA1 gene (176260.0010-176260.0011). One of these families also segregated seizures. </p><p>In a 5-generation Brazilian family segregating autosomal dominant hypomagnesemia and myokymia mapping to chromosome 12q, Glaudemans et al. (2009) identified a heterozygous missense mutation in the KCNA1 gene (N255D; 176250.0015) that segregated with the disease and was not found in 100 control chromosomes. </p><p><strong><em>Reviews</em></strong></p><p>
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For a comprehensive review of episodic ataxia type 1 and its causative mutations, see Brandt and Strupp (1997). </p><p>Jen et al. (2007) provided a detailed review of the pathophysiology and molecular genetics of known episodic ataxia syndromes. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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<span class="mim-text-font">
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<p>Using homologous recombination, Herson et al. (2003) introduced the Kcna1 val408-to-ala mutation (V408A; 176260.0001) into mice. In contrast to Kcna1 null mice, homozygous V408A mice died after embryonic day 3, consistent with V408A being a homozygous lethal allele. V408A heterozygous mice showed stress-induced loss of motor coordination that was ameliorated by acetazolamide, similar to patients with EA1. Cerebellar Purkinje cells from V408A heterozygous mice showed a greater frequency and amplitude of spontaneous GABAergic inhibitory postsynaptic currents than did wildtype. The authors noted that Kcna1 is localized to GABAergic interneurons in the cerebellum, suggesting that it may be important for regulating GABA release, and that mutations in the gene may alter excitability in the cerebellum, leading to clinical symptoms. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Isaacs (1961); Mertens and Zschocke (1965)
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ashizawa, T., Butler, I. J., Harati, Y., Roongta, S. M.
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<strong>A dominantly inherited syndrome with continuous motor neuron discharges.</strong>
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Ann. Neurol. 13: 285-290, 1983.
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[PubMed: 6847141]
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[Full Text: https://doi.org/10.1002/ana.410130310]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Brandt, T., Strupp, M.
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<strong>Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).</strong>
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Audiol. Neurootol. 2: 373-383, 1997.
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[PubMed: 9390841]
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[Full Text: https://doi.org/10.1159/000259262]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Browne, D. L., Gancher, S. T., Nutt, J. G., Brunt, E. R. P., Smith, E. A., Kramer, P., Litt, M.
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<strong>Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.</strong>
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Nature Genet. 8: 136-140, 1994.
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[PubMed: 7842011]
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[Full Text: https://doi.org/10.1038/ng1094-136]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Brunt, E. R. P., van Weerden, T. W.
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<strong>Familial paroxysmal kinesigenic ataxia and continuous myokymia.</strong>
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Brain 113: 1361-1382, 1990.
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[PubMed: 2245301]
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[Full Text: https://doi.org/10.1093/brain/113.5.1361]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chen, H., von Hehn, C., Kaczmarek, L. K., Ment, L. R., Pober, B. R., Hisama, F. M.
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<strong>Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.</strong>
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Neurogenetics 8: 131-135, 2007.
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[PubMed: 17136396]
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[Full Text: https://doi.org/10.1007/s10048-006-0071-z]
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<li>
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<p class="mim-text-font">
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Litt, M., Kramer, P., Browne, D., Gancher, S., Brunt, E. R. P., Root, D., Phromchotikul, T., Dubay, C. J., Nutt, J.
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<strong>A gene for episodic ataxia/myokymia maps to chromosome 12p13.</strong>
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Am. J. Hum. Genet. 55: 702-709, 1994.
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[PubMed: 7942848]
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Litt, M., Kramer, P., Phromchotikul, T., Gancher, S. T., Nutt, J. G.
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<strong>A gene for autosomal dominant episodic ataxia/myokymia maps to chromosome 12p. (Abstract)</strong>
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Am. J. Hum. Genet. 53 (suppl.): A1036, 1993.
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McGuire, S. A., Tomasovic, J. J., Ackerman, N., Jr.
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<strong>Hereditary continuous muscle fiber activity.</strong>
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Arch. Neurol. 41: 395-396, 1984.
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<strong>Neuromyotonia.</strong>
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<strong>Hereditary myokymia. Syndrome or disease entity associated with hypoglycemia and disturbed thyroid function.</strong>
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Arch. Neurol. Psychiat. 68: 236-247, 1952.
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Vaamonde, J., Artieda, J., Obeso, J. A.
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<strong>Hereditary paroxysmal ataxia with neuromyotonia.</strong>
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Movement Disorders 6: 180-182, 1991.
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VanDyke, D. H., Griggs, R. C., Murphy, M. J., Goldstein, M. N.
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<strong>Hereditary myokymia and periodic ataxia.</strong>
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J. Neurol. Sci. 25: 109-118, 1975.
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Wieczorek, V., Greger, J.
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<strong>Ueber ein familiaer gehaeuftes Vorkommen von Myokymie.</strong>
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Psychiat. Neurol. Med. Psychol. 14: 452-455, 1962.
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</p>
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