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Entry
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- #170400 - HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1
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- OMIM
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<p>
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<span class="h4">#170400</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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<li role="presentation">
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<a href="/clinicalSynopsis/170400"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</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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</a>
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</h4>
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=HYPOKALEMIC PERIODIC PARALYSIS, 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="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=211&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1338/" 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/3661" 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=170400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=681" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-row">
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<div 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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</a>
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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:14452" 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/170400" 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:14452" 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>ORPHA:</strong> 681<br />
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<strong>DO:</strong> 14452<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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170400
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</span>
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</span>
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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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HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1
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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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HYPOKALEMIC PERIODIC PARALYSIS; HOKPP
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/1/1558?start=-3&limit=10&highlight=1558">
|
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1q32.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Hypokalemic periodic paralysis, type 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/170400"> 170400 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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CACNA1S
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/114208"> 114208 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/170400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/170400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/170400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<strong> INHERITANCE </strong>
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<strong> MUSCLE, SOFT TISSUES </strong>
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- Flaccid weakness or paralysis, episodic attacks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868434</a>]</span><br /> -
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Attacks last 4 to 24 hours <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868447</a>]</span><br /> -
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Attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868448</a>]</span><br /> -
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Attacks may present during or after sleep <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868449&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868449</a>]</span><br /> -
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Attacks relieved by potassium administration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868450&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868450</a>]</span><br /> -
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Attacks usually decrease or disappear after age 40 years <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868451&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868451</a>]</span><br /> -
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Progressive interictal weakness is common <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868452</a>]</span><br /> -
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Myotonia is usually not seen <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868453</a>]</span><br /> -
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Vacuolar myopathy may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868454</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/719815005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">719815005</a>]</span><br /> -
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Tubular aggregates in muscle fibers may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868455&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868455</a>]</span><br /> -
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Acetazolamide may worsen symptoms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868456</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Hypokalemia occurs during paralytic attacks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868457&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868457</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset usually in second decade (may occur earlier)<br /> -
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One-third of cases are sporadic<br /> -
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Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
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Reduced penetrance in females<br /> -
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Allelic disorder to hyperkalemic periodic paralysis (HYPP, <a href="/entry/170500">170500</a>)<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the alpha-1S subunit of L-type voltage-dependent calcium channel gene (CACNA1S, <a href="/entry/114208#0001">114208.0001</a>).<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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 hypokalemic periodic paralysis type 1 (HOKPP1) is caused by heterozygous mutation in the CACNL1A3 gene (CACNA1S; <a href="/entry/114208">114208</a>) on chromosome 1q32.</p><p>See also HOKPP2 (<a href="/entry/613345">613345</a>), which is caused by mutation in the SCN4A gene (<a href="/entry/603967">603967</a>). Mutations in the SCN4A gene can also cause hyperkalemic periodic paralysis (HYPP; <a href="/entry/170500">170500</a>). Mutation in the ATP1A2 gene (<a href="/entry/182340">182340</a>) may also cause a similar phenotype (AHC1; <a href="/entry/104290">104290</a>).</p>
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<strong>Description</strong>
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<p>There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, that are distinguished by the changes in serum potassium levels during paralytic attacks. In contrast to HYPP, myotonia is usually not present in HOKPP (<a href="#16" class="mim-tip-reference" title="Jurkat-Rott, K., Mitrovic, N., Hang, C., Kouzmekine, A., Iaizzo, P., Herzog, J., Lerche, H., Nicole, S., Vale-Santos, J., Chauveau, D., Fontaine, B., Lehmann-Horn, F. <strong>Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.</strong> Proc. Nat. Acad. Sci. 97: 9549-9554, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10944223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10944223</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10944223[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/10.1073/pnas.97.17.9549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10944223">Jurkat-Rott et al., 2000</a>). Hypokalemic periodic paralysis may also occur as a rare complication of thyrotoxicosis (see TTPP1, <a href="/entry/188580">188580</a>), a disorder with a high frequency in individuals of Asian descent (<a href="#18" class="mim-tip-reference" title="Kung, A. W. C. <strong>Clinical review: thyrotoxic periodic paralysis: a diagnostic challenge.</strong> J. Clin. Endocr. Metab. 91: 2490-2495, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16608889/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16608889</a>] [<a href="https://doi.org/10.1210/jc.2006-0356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16608889">Kung, 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16608889+10944223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p>The classic picture of HOKPP is episodic weakness accompanied by low serum potassium levels. The attacks are aborted by administration of potassium or by exercise and are precipitated by insulin or glucose administration. Hypokalemic periodic paralysis shows markedly reduced penetrance in females, although penetrance is 100% in males. For this reason, some pedigree patterns have suggested X-linked recessive inheritance (<a href="#28" class="mim-tip-reference" title="Sagild, U. <strong>Hereditary Transient Paralysis.</strong> Copenhagen: Munksgaard (pub.) 1959."None>Sagild, 1959</a>). <a href="#27" class="mim-tip-reference" title="Ropers, H. H., Szliwowski, H. B. <strong>Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: a delayed mutation?</strong> Hum. Genet. 48: 113-116, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/457125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">457125</a>] [<a href="https://doi.org/10.1007/BF00273282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="457125">Ropers and Szliwowski (1979)</a> described a family in which an unaffected male had 2 daughters, each by a different wife, with this disorder. One of the affected daughters had an affected son. <a href="#4" class="mim-tip-reference" title="Buruma, O. J. S., Bots, G. T. A. M., Went, L. N. <strong>Familial hypokalemic periodic paralysis: 50-year follow-up of a large family.</strong> Arch. Neurol. 42: 28-31, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3855357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3855357</a>] [<a href="https://doi.org/10.1001/archneur.1985.04060010034012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3855357">Buruma et al. (1985)</a> reported a large family with HOKPP with 28 affected patients in 4 generations. All patients investigated showed permanent muscle weakness. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=457125+3855357" 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="#19" class="mim-tip-reference" title="Ma, J. T. C., Wang, C., Lam, K. S. L., Yeung, R. T. T., Chan, F. L., Boey, J., Cheung, P. S. Y., Coghlan, J. P., Scoggins, B. A., Stockigt, J. R. <strong>Fifty cases of primary hyperaldosteronism in Hong Kong Chinese with a high frequency of periodic paralysis; evaluation of techniques for tumour localisation.</strong> Quart. J. Med. 61: 1021-1037, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3659246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3659246</a>]" pmid="3659246">Ma et al. (1986)</a> reported the unusual occurrence of high frequency of periodic paralysis among Chinese patients with primary hyperaldosteronism and resultant hypokalemia due to adrenal cortical adenoma. Among 50 consecutive patients with an adenoma, 42% presented with periodic paralysis. Other features included palpitations (30%) and syncope (12%). Those with paralysis had significantly lower mean serum potassium and significantly higher aldosterone levels than those without paralysis. <a href="#19" class="mim-tip-reference" title="Ma, J. T. C., Wang, C., Lam, K. S. L., Yeung, R. T. T., Chan, F. L., Boey, J., Cheung, P. S. Y., Coghlan, J. P., Scoggins, B. A., Stockigt, J. R. <strong>Fifty cases of primary hyperaldosteronism in Hong Kong Chinese with a high frequency of periodic paralysis; evaluation of techniques for tumour localisation.</strong> Quart. J. Med. 61: 1021-1037, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3659246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3659246</a>]" pmid="3659246">Ma et al. (1986)</a> also noted that hypokalemic paralysis can occur in Orientals with barium poisoning, and as a side-effect of gossypol, a fertility regulating agent used in China. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3659246" 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="#26" class="mim-tip-reference" title="Raskin, R. J., Tesar, J. T., Lawless, O. J. <strong>Hypokalemic periodic paralysis in Sjogren's syndrome.</strong> Arch. Intern. Med. 141: 1671-1673, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7305577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7305577</a>]" pmid="7305577">Raskin et al. (1981)</a> and <a href="#25" class="mim-tip-reference" title="Pun, K.-K., Wong, C.-K., Tsui, E. Y.-L., Tam, S. C.-F., Kung, A. W.-C., Wang, C. C.-L. <strong>Hypokalemic periodic paralysis due to the Sjogren syndrome in Chinese patients.</strong> Ann. Intern. Med. 110: 405-406, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2916810/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2916810</a>] [<a href="https://doi.org/10.7326/0003-4819-110-5-405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2916810">Pun et al. (1989)</a> observed periodic paralysis with Sjogren syndrome (<a href="/entry/270150">270150</a>), which can be complicated by distal renal tubular acidosis and hypokalemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2916810+7305577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Boerman, R. H., Ophoff, R. A., Links, T. P., van Eijk, R., Sandkuijl, L. A., Elbaz, A., Vale-Santos, J. E., Wintzen, A. R., van Deutekom, J. C., Isles, D. E., Fontaine, B., Padberg, G. W., Frants, R. R. <strong>Mutation in DHP receptor alpha-1 subunit (CACLN1A3) (sic) gene in a Dutch family with hypokalemic periodic paralysis.</strong> J. Med. Genet. 32: 44-47, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7897626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7897626</a>] [<a href="https://doi.org/10.1136/jmg.32.1.44" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7897626">Boerman et al. (1995)</a> reported a large Dutch family in which 55 members had HOKPP inherited in an autosomal dominant pattern. Nineteen patients had typical episodic attacks of paralysis, whereas 14 had muscle weakness without attacks. Reduced muscle fiber conduction velocity was present. Age of onset ranged from 9 to 19 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7897626" 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 review of 71 patients from 56 kindreds with HOKPP, <a href="#21" class="mim-tip-reference" title="Miller, T. M., Dias da Silva, M. R., Miller, H. A., Kwiecinski, H., Mendell, J. R., Tawil, R., McManis, P., Griggs, R. C., Angelini, C., Servidei, S., Petajan, J., Dalakas, M. C., Ranum, L. P. W., Fu, Y. H., Ptacek, L. J. <strong>Correlating phenotype and genotype in the periodic paralyses.</strong> Neurology 63: 1647-1655, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15534250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15534250</a>] [<a href="https://doi.org/10.1212/01.wnl.0000143383.91137.00" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15534250">Miller et al. (2004)</a> found that 64% of kindreds had mutations in either the CACNA1S or SCN4A genes. The arg1239-to-his (R1239H; <a href="/entry/114208#0001">114208.0001</a>) and arg528-to-his (R528H; <a href="/entry/114208#0003">114208.0003</a>) mutations of the CACNA1S gene were the most common mutations, each found in 42% of kindreds. Five kindreds had SCN4A mutations. No mutations were identified in 20 kindreds. HOKPP patients with mutations had a significantly earlier age at disease onset (10 years) compared to those without mutations (22 years); however, 2 patients with mutations presented at ages 23 and 26 years, respectively. Among those with mutations, the disease was most severe during the teenage years, and 72% of patients had residual muscle weakness. Muscle biopsies showed vacuolar changes in 80% of patients with CACNA1S mutations; these changes were not seen in any patients without mutations. Treatment with acetazolamide was beneficial in 85% of those with mutations and 100% of those without mutations. In a diagnostic flow chart for the periodic paralyses, <a href="#21" class="mim-tip-reference" title="Miller, T. M., Dias da Silva, M. R., Miller, H. A., Kwiecinski, H., Mendell, J. R., Tawil, R., McManis, P., Griggs, R. C., Angelini, C., Servidei, S., Petajan, J., Dalakas, M. C., Ranum, L. P. W., Fu, Y. H., Ptacek, L. J. <strong>Correlating phenotype and genotype in the periodic paralyses.</strong> Neurology 63: 1647-1655, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15534250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15534250</a>] [<a href="https://doi.org/10.1212/01.wnl.0000143383.91137.00" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15534250">Miller et al. (2004)</a> indicated that HOKPP shows onset in childhood to adolescence and is characterized by infrequent but severe attacks, often lasting up to 24 hours, and decreased serum potassium. Myotonia is not a feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15534250" 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="#7" class="mim-tip-reference" title="Chabrier, S., Monnier, N., Lunardi, J. <strong>Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.</strong> J. Med. Genet. 45: 686-688, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18835861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18835861</a>] [<a href="https://doi.org/10.1136/jmg.2008.059766" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18835861">Chabrier et al. (2008)</a> reported a Turkish boy, born of consanguineous parents, with very early onset of HOKPP at 1 year of age. He showed hypotonia and respiratory insufficiency at birth, which the authors postulated may have been related to the disorder. Although oral potassium supplementation was initiated, he was still symptomatic and showed chronic global muscle weakness at age 6 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18835861" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Abbott, G. W., Butler, M. H., Bendahhou, S., Dalakas, M. C., Ptacek, L. J., Goldstein, S. A. N. <strong>MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.</strong> Cell 104: 217-231, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207363</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00207-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11207363">Abbott et al. (2001)</a> reported a male proband with atypical HOKPP who was negative for mutations in the SCN4A and CACNA1S genes. He had onset of episodic paralytic weakness at the age of 14 years. Episodes were characterized by weakness primarily affecting the lower extremities and lasting hours to days, and were usually precipitated by strenuous exercise followed by rest or after prolonged sitting. Carbohydrate ingestion did not precipitate attacks, alcohol intake appeared to facilitate recovery from an attack, and potassium had no effect. He was classified as having hypokalemic periodic paralysis because of the typical age of onset, paralytic attacks that most often occurred after exercise, a low potassium level during a spontaneous attack, and the ability to precipitate an attack with insulin and glucose on 1 occasion. Atypical for this diagnosis was that a second provocative test was negative and that attacks usually occurred while awake. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11207363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a large family with HOKPP, <a href="#4" class="mim-tip-reference" title="Buruma, O. J. S., Bots, G. T. A. M., Went, L. N. <strong>Familial hypokalemic periodic paralysis: 50-year follow-up of a large family.</strong> Arch. Neurol. 42: 28-31, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3855357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3855357</a>] [<a href="https://doi.org/10.1001/archneur.1985.04060010034012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3855357">Buruma et al. (1985)</a> excluded close linkage with 25 genetic marker systems. By studying linkage with polymorphic markers associated with the candidate loci in a single multigenerational pedigree, <a href="#6" class="mim-tip-reference" title="Casley, W. L., Allon, M., Cousin, H. K., Ting, S. S., Crackower, M. A., Hashimoto, L., Cornelis, F., Beckmann, J. S., Hudson, A. J., Ebers, G. C. <strong>Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci.</strong> Genomics 14: 493-494, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1330884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1330884</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80249-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1330884">Casley et al. (1992)</a> excluded all 3 as the site of the mutation in HOKPP: the adult skeletal muscle sodium channel (SCN4A; <a href="/entry/603967">603967</a>), the T-cell receptor beta locus (TCRB; see <a href="/entry/186930">186930</a>), and the HRAS locus (<a href="/entry/190020">190020</a>). <a href="#11" class="mim-tip-reference" title="Fontaine, B., Trofatter, J., Rouleau, G. A., Khurana, T. S., Haines, J., Brown, R., Gusella, J. F. <strong>Different gene loci for hyperkalemic and hypokalemic periodic paralysis.</strong> Neuromusc. Disord. 1: 235-238, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1822800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1822800</a>] [<a href="https://doi.org/10.1016/0960-8966(91)90095-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1822800">Fontaine et al. (1991)</a> likewise excluded linkage to the SCN4A gene, and concluded that the hyperkalemic and hypokalemic forms of periodic paralysis are determined by mutations at different loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1822800+1330884+3855357" 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 genomewide search in 3 affected European families of different geographic origins, <a href="#12" class="mim-tip-reference" title="Fontaine, B., Vale-Santos, J., Jurkat-Rott, K., Reboul, J., Plassart, E., Rime, C.-S., Elbaz, A., Heine, R., Guimaraes, J., Weissenbach, J., Baumann, N., Fardeau, M., Lehmann-Horn, F. <strong>Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families.</strong> Nature Genet. 6: 267-272, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012389</a>] [<a href="https://doi.org/10.1038/ng0394-267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012389">Fontaine et al. (1994)</a> localized the HOKPP gene to chromosome 1q31-q32. They also demonstrated that the CACNL1A3 gene maps to the same region, sharing a 5-cM interval with the HOKPP locus. Moreover, CACNL1A3 was found to cosegregate with hypokalemic periodic paralysis without recombinants in the 2 informative families. This gene encodes a dihydropyridine (DHP) receptor which functions as a voltage-gated calcium channel and is also critical for excitation-contraction coupling in a voltage-sensitive and calcium-independent manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
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Genetic heterogeneity of HOKPP was demonstrated by <a href="#23" class="mim-tip-reference" title="Plassart, E., Elbaz, A., Santos, J. V., Reboul, J., Lapie, P., Chauveau, D., Jurkat-Rott, K., Guimaraes, J., Saudubray, J.-M., Weissenbach, J., Lehmann-Horn, F., Fontaine, B. <strong>Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).</strong> Hum. Genet. 94: 551-556, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959693</a>] [<a href="https://doi.org/10.1007/BF00211025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959693">Plassart et al. (1994)</a>, who found that the disorder in a large family of French origin was not genetically linked to 1q32. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Abbott, G. W., Butler, M. H., Bendahhou, S., Dalakas, M. C., Ptacek, L. J., Goldstein, S. A. N. <strong>MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.</strong> Cell 104: 217-231, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207363</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00207-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11207363">Abbott et al. (2001)</a> reported a male proband with atypical HOKPP who was negative for mutations in the SCN4A and CACNA1S genes. In this patient and in his 2 similarly affected family members, <a href="#1" class="mim-tip-reference" title="Abbott, G. W., Butler, M. H., Bendahhou, S., Dalakas, M. C., Ptacek, L. J., Goldstein, S. A. N. <strong>MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.</strong> Cell 104: 217-231, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207363</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00207-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11207363">Abbott et al. (2001)</a> identified a substitution in the KCNE3 gene (R83H; <a href="/entry/604433#0001">604433.0001</a>). However, studies by <a href="#31" class="mim-tip-reference" title="Sternberg, D., Tabti, N., Fournier, E., Hainque, B., Fontaine, B. <strong>Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.</strong> Neurology 61: 857-859, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14504341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14504341</a>] [<a href="https://doi.org/10.1212/01.wnl.0000082392.66713.e3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14504341">Sternberg et al. (2003)</a> and <a href="#15" class="mim-tip-reference" title="Jurkat-Rott, K., Lehmann-Horn, F. <strong>Periodic paralysis mutation MiRP2-R83H in controls: interpretations and general recommendation.</strong> Neurology 62: 1012-1015, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15037716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15037716</a>] [<a href="https://doi.org/10.1212/01.wnl.0000119392.29624.88" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15037716">Jurkat-Rott and Lehmann-Horn (2004)</a> concluded that the R83H variant does not play a causative role in periodic paralysis and that it is a polymorphism. For further discussion, see <a href="/entry/604433#0001">604433.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15037716+11207363+14504341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 11 of 33 probands with HOKPP, <a href="#24" class="mim-tip-reference" title="Ptacek, L. J., Tawil, R., Griggs, R. C., Engel, A. G., Layzer, R. B., Kwiecinski, H., McManis, P. G., Santiago, L., Moore, M., Fouad, G., Bradley, P., Leppert, M. F. <strong>Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.</strong> Cell 77: 863-868, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8004673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8004673</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90135-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8004673">Ptacek et al. (1994)</a> identified mutations in the CACNL1A3 gene (<a href="/entry/114208#0001">114208.0001</a>; <a href="/entry/114208#0002">114208.0002</a>) that occurred at 1 of 2 adjacent nucleotides within the same codon. This was the first human disease to be related to DHP receptor mutations. In a large Dutch family with HOKPP, <a href="#2" class="mim-tip-reference" title="Boerman, R. H., Ophoff, R. A., Links, T. P., van Eijk, R., Sandkuijl, L. A., Elbaz, A., Vale-Santos, J. E., Wintzen, A. R., van Deutekom, J. C., Isles, D. E., Fontaine, B., Padberg, G. W., Frants, R. R. <strong>Mutation in DHP receptor alpha-1 subunit (CACLN1A3) (sic) gene in a Dutch family with hypokalemic periodic paralysis.</strong> J. Med. Genet. 32: 44-47, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7897626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7897626</a>] [<a href="https://doi.org/10.1136/jmg.32.1.44" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7897626">Boerman et al. (1995)</a> identified a mutation in the CACNL1A3 gene (<a href="/entry/114208#0003">114208.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7897626+8004673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Davies, N. P., Eunson, L. H., Samuel, M., Hanna, M. G. <strong>Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.</strong> Neurology 57: 1323-1325, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11591859/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11591859</a>] [<a href="https://doi.org/10.1212/wnl.57.7.1323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11591859">Davies et al. (2001)</a> found that 11 of 36 families with HOKPP harbored mutations in the CACNA1S gene (<a href="/entry/114208#0001">114208.0001</a> and <a href="/entry/114208#0003">114208.0003</a>), whereas only 1 family had a mutation in the SCN4A gene (<a href="/entry/603967#0020">603967.0020</a>), suggesting that SCN4A mutations are an uncommon cause of HOKPP in the U.K. Among 58 independent index cases of HOKPP, <a href="#30" class="mim-tip-reference" title="Sternberg, D., Maisonobe, T., Jurkat-Rott, K., Nicole, S., Launay, E., Chauveau, D., Tabti, N., Lehmann-Horn, F., Hainque, B., Fontaine, B. <strong>Hypokalaemic periodic paralysis type 2 caused by mutation at codon 672 in the muscle sodium channel gene SCN4A.</strong> Brain 124: 1091-1099, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11353725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11353725</a>] [<a href="https://doi.org/10.1093/brain/124.6.1091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11353725">Sternberg et al. (2001)</a> found that 40 were linked to the CACNA1S gene and 5 to the SCN4A gene, all of which were in the same codon (see, e.g., <a href="/entry/603967#0016">603967.0016</a>). Thirteen families remained without known mutations, indicating genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11353725+11591859" 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="#7" class="mim-tip-reference" title="Chabrier, S., Monnier, N., Lunardi, J. <strong>Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.</strong> J. Med. Genet. 45: 686-688, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18835861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18835861</a>] [<a href="https://doi.org/10.1136/jmg.2008.059766" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18835861">Chabrier et al. (2008)</a> identified a de novo mutation in the CACNA1S gene (<a href="/entry/114208#0008">114208.0008</a>) in a Turkish boy with very early onset of HOKPP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18835861" 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="Matthews, E., Labrum, R., Sweeney, M. G., Sud, R., Haworth, A., Chinnery, P. F., Meola, G., Schorge, S., Kullmann, D. M., Davis, M. B., Hanna, M. G. <strong>Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.</strong> Neurology 72: 1544-1547, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118277</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118277[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/10.1212/01.wnl.0000342387.65477.46" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118277">Matthews et al. (2009)</a> identified mutations in the CACNA1S or SCN4A gene in 74 (almost 90%) of 83 patients with HOKPP. All of the mutations, including 3 novel mutations, affected arginine residues in the S4 voltage sensing region in 1 of the transmembrane domains of each gene. The most common mutations affected residues arg528 (25 cases) and arg1239 (39 cases) in CACNA1S (see, e.g., R1239H; <a href="/entry/114208#0001">114208.0001</a> and R528H; <a href="/entry/114208#0003">114208.0003</a>). The most common mutations in SCN4A affected residues arg672 (see, e.g., <a href="/entry/603967#0016">603967.0016</a>) and arg1132. The findings supported the hypothesis that loss of positive charge in S4 voltage sensors is important to the pathogenesis of this disorder. (<a href="#29" class="mim-tip-reference" title="Sokolov, S., Scheuer, T., Catterall, W. A. <strong>Gating pore current in an inherited ion channelopathy.</strong> Nature 446: 76-78, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17330043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17330043</a>] [<a href="https://doi.org/10.1038/nature05598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17330043">Sokolov et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19118277+17330043" 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="#Buruma1978" class="mim-tip-reference" title="Buruma, O. J., Dubbelman, T. M. A. R., de Bruyne, A. W., van Steveninck, J. <strong>Erythrocyte membrane studies in familial hypokalemic periodic paralysis.</strong> Arch. Neurol. 35: 615-616, 1978.">Buruma et al. (1978)</a>; <a href="#Campa1974" class="mim-tip-reference" title="Campa, J. F., Sanders, D. B. <strong>Familial hypokalemic periodic paralysis: local recovery after nerve stimulation.</strong> Arch. Neurol. 31: 110-115, 1974.">Campa and Sanders (1974)</a>; <a href="#Corbett1975" class="mim-tip-reference" title="Corbett, V. A., Nuttall, F. Q. <strong>Familial hypokalemic periodic paralysis in Blacks.</strong> Ann. Intern. Med. 83: 63-65, 1975.">Corbett and Nuttall
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(1975)</a>; <a href="#Cusins1963" class="mim-tip-reference" title="Cusins, P. J., Van Rooyen, R. J. <strong>Familial periodic paralysis. Seven cases in a Durban family.</strong> S. Afr. Med. J. 37: 1180-1183, 1963.">Cusins and Van Rooyen (1963)</a>; <a href="#Horton1977" class="mim-tip-reference" title="Horton, B. <strong>Anesthetic experiences in a family with hypokalemic familial periodic paralysis.</strong> Anesthesiology 47: 308-310, 1977.">Horton (1977)</a>; <a href="#Johnsen1981" class="mim-tip-reference" title="Johnsen, T. <strong>Familial periodic paralysis with hypokalaemia: experimental and clinical investigations.</strong> Danish Med. Bull. 28: 1-27, 1981.">Johnsen (1981)</a>; <a href="#Kantola1992" class="mim-tip-reference" title="Kantola, I. M., Tarssanen, L. T. <strong>Diagnosis of familial hypokalemic periodic paralysis: role of the potassium exercise test.</strong> Neurology 42: 2158-2161, 1992.">Kantola and Tarssanen (1992)</a>; <a href="#Pearson1972">Pearson and Kalyanaraman (1972)</a>; <a href="#Talbott1941" class="mim-tip-reference" title="Talbott, J. H. <strong>Periodic paralysis: a clinical syndrome.</strong> Medicine 20: 85-143, 1941.">Talbott (1941)</a>
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Abbott, G. W., Butler, M. H., Bendahhou, S., Dalakas, M. C., Ptacek, L. J., Goldstein, S. A. N.
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<strong>MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis.</strong>
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Cell 104: 217-231, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11207363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11207363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11207363" 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/s0092-8674(01)00207-0" target="_blank">Full Text</a>]
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Boerman, R. H., Ophoff, R. A., Links, T. P., van Eijk, R., Sandkuijl, L. A., Elbaz, A., Vale-Santos, J. E., Wintzen, A. R., van Deutekom, J. C., Isles, D. E., Fontaine, B., Padberg, G. W., Frants, R. R.
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<strong>Mutation in DHP receptor alpha-1 subunit (CACLN1A3) (sic) gene in a Dutch family with hypokalemic periodic paralysis.</strong>
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J. Med. Genet. 32: 44-47, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7897626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7897626</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7897626" 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/jmg.32.1.44" target="_blank">Full Text</a>]
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Buruma, O. J., Dubbelman, T. M. A. R., de Bruyne, A. W., van Steveninck, J.
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<strong>Erythrocyte membrane studies in familial hypokalemic periodic paralysis.</strong>
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Arch. Neurol. 35: 615-616, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/150837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">150837</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=150837" 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.1978.00500330063013" target="_blank">Full Text</a>]
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Buruma, O. J. S., Bots, G. T. A. M., Went, L. N.
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<strong>Familial hypokalemic periodic paralysis: 50-year follow-up of a large family.</strong>
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Arch. Neurol. 42: 28-31, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3855357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3855357</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3855357" 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.1985.04060010034012" target="_blank">Full Text</a>]
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Campa, J. F., Sanders, D. B.
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<strong>Familial hypokalemic periodic paralysis: local recovery after nerve stimulation.</strong>
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Arch. Neurol. 31: 110-115, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4834972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4834972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4834972" 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.1974.00490380058007" target="_blank">Full Text</a>]
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Casley, W. L., Allon, M., Cousin, H. K., Ting, S. S., Crackower, M. A., Hashimoto, L., Cornelis, F., Beckmann, J. S., Hudson, A. J., Ebers, G. C.
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<strong>Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci.</strong>
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Genomics 14: 493-494, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1330884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1330884</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1330884" 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/s0888-7543(05)80249-6" target="_blank">Full Text</a>]
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Chabrier, S., Monnier, N., Lunardi, J.
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<strong>Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.</strong>
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J. Med. Genet. 45: 686-688, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18835861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18835861</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18835861" 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/jmg.2008.059766" target="_blank">Full Text</a>]
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Corbett, V. A., Nuttall, F. Q.
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<strong>Familial hypokalemic periodic paralysis in Blacks.</strong>
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Ann. Intern. Med. 83: 63-65, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1147439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1147439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1147439" 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/10.7326/0003-4819-83-1-63" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.57.7.1323" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0960-8966(91)90095-a" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0394-267" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00000542-197709000-00019" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000119392.29624.88" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.97.17.9549" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.42.11.2158" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1210/jc.2006-0356" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000342387.65477.46" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000143383.91137.00" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00211025" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(94)90135-x" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Ropers1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ropers, H. H., Szliwowski, H. B.
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<strong>Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: a delayed mutation?</strong>
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Hum. Genet. 48: 113-116, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/457125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">457125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=457125" 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/BF00273282" target="_blank">Full Text</a>]
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<li>
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<a id="28" class="mim-anchor"></a>
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<a id="Sagild1959" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sagild, U.
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<strong>Hereditary Transient Paralysis.</strong>
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Copenhagen: Munksgaard (pub.) 1959.
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</p>
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</div>
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<li>
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<a id="29" class="mim-anchor"></a>
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<a id="Sokolov2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sokolov, S., Scheuer, T., Catterall, W. A.
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<strong>Gating pore current in an inherited ion channelopathy.</strong>
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Nature 446: 76-78, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17330043/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17330043</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17330043" 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/nature05598" target="_blank">Full Text</a>]
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</p>
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<a id="30" class="mim-anchor"></a>
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<a id="Sternberg2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sternberg, D., Maisonobe, T., Jurkat-Rott, K., Nicole, S., Launay, E., Chauveau, D., Tabti, N., Lehmann-Horn, F., Hainque, B., Fontaine, B.
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<strong>Hypokalaemic periodic paralysis type 2 caused by mutation at codon 672 in the muscle sodium channel gene SCN4A.</strong>
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Brain 124: 1091-1099, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11353725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11353725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11353725" 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/124.6.1091" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="Sternberg2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sternberg, D., Tabti, N., Fournier, E., Hainque, B., Fontaine, B.
|
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<strong>Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.</strong>
|
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Neurology 61: 857-859, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14504341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14504341</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14504341" 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/10.1212/01.wnl.0000082392.66713.e3" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Talbott1941" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Talbott, J. H.
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<strong>Periodic paralysis: a clinical syndrome.</strong>
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Medicine 20: 85-143, 1941.
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</p>
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</ol>
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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 : 3/11/2010
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/1/2010<br>Cassandra L. Kniffin - updated : 11/24/2009<br>Cassandra L. Kniffin - updated : 2/12/2009<br>Cassandra L. Kniffin - updated : 7/12/2005<br>Cassandra L. Kniffin - updated : 5/9/2005<br>Cassandra L. Kniffin - reorganized : 1/23/2004<br>Cassandra L. Kniffin - updated : 1/15/2004<br>Stylianos E. Antonarakis - updated : 1/30/2001<br>Victor A. McKusick - updated : 9/26/2000
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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Victor A. McKusick : 6/2/1986
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </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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carol : 06/01/2022
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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alopez : 11/10/2021<br>ckniffin : 11/05/2021<br>carol : 07/09/2016<br>carol : 11/30/2015<br>mgross : 10/7/2013<br>ckniffin : 4/7/2010<br>wwang : 3/19/2010<br>ckniffin : 3/11/2010<br>carol : 2/5/2010<br>ckniffin : 2/1/2010<br>ckniffin : 11/24/2009<br>wwang : 2/20/2009<br>ckniffin : 2/12/2009<br>ckniffin : 7/12/2005<br>tkritzer : 5/13/2005<br>ckniffin : 5/9/2005<br>carol : 1/23/2004<br>ckniffin : 1/15/2004<br>mgross : 1/30/2001<br>mgross : 1/30/2001<br>carol : 10/6/2000<br>terry : 9/26/2000<br>carol : 3/6/2000<br>carol : 7/7/1999<br>terry : 5/5/1999<br>dkim : 12/10/1998<br>carol : 6/30/1996<br>mimadm : 1/14/1995<br>carol : 1/11/1995<br>davew : 8/1/1994<br>jason : 7/12/1994<br>carol : 6/29/1993<br>carol : 2/17/1993
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<span class="mim-font">
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<strong>#</strong> 170400
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1
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</h3>
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</div>
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<div>
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<br />
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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HYPOKALEMIC PERIODIC PARALYSIS; HOKPP
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<div>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 681;
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<strong>DO:</strong> 14452;
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<td>
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<span class="mim-font">
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1q32.1
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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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Hypokalemic periodic paralysis, type 1
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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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170400
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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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Autosomal dominant
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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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3
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<td>
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<span class="mim-font">
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CACNA1S
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</td>
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<td>
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<span class="mim-font">
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114208
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<span class="mim-font">
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<strong>TEXT</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>A number sign (#) is used with this entry because hypokalemic periodic paralysis type 1 (HOKPP1) is caused by heterozygous mutation in the CACNL1A3 gene (CACNA1S; 114208) on chromosome 1q32.</p><p>See also HOKPP2 (613345), which is caused by mutation in the SCN4A gene (603967). Mutations in the SCN4A gene can also cause hyperkalemic periodic paralysis (HYPP; 170500). Mutation in the ATP1A2 gene (182340) may also cause a similar phenotype (AHC1; 104290).</p>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, that are distinguished by the changes in serum potassium levels during paralytic attacks. In contrast to HYPP, myotonia is usually not present in HOKPP (Jurkat-Rott et al., 2000). Hypokalemic periodic paralysis may also occur as a rare complication of thyrotoxicosis (see TTPP1, 188580), a disorder with a high frequency in individuals of Asian descent (Kung, 2006). </p>
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</span>
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<div>
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<br />
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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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</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 classic picture of HOKPP is episodic weakness accompanied by low serum potassium levels. The attacks are aborted by administration of potassium or by exercise and are precipitated by insulin or glucose administration. Hypokalemic periodic paralysis shows markedly reduced penetrance in females, although penetrance is 100% in males. For this reason, some pedigree patterns have suggested X-linked recessive inheritance (Sagild, 1959). Ropers and Szliwowski (1979) described a family in which an unaffected male had 2 daughters, each by a different wife, with this disorder. One of the affected daughters had an affected son. Buruma et al. (1985) reported a large family with HOKPP with 28 affected patients in 4 generations. All patients investigated showed permanent muscle weakness. </p><p>Ma et al. (1986) reported the unusual occurrence of high frequency of periodic paralysis among Chinese patients with primary hyperaldosteronism and resultant hypokalemia due to adrenal cortical adenoma. Among 50 consecutive patients with an adenoma, 42% presented with periodic paralysis. Other features included palpitations (30%) and syncope (12%). Those with paralysis had significantly lower mean serum potassium and significantly higher aldosterone levels than those without paralysis. Ma et al. (1986) also noted that hypokalemic paralysis can occur in Orientals with barium poisoning, and as a side-effect of gossypol, a fertility regulating agent used in China. </p><p>Raskin et al. (1981) and Pun et al. (1989) observed periodic paralysis with Sjogren syndrome (270150), which can be complicated by distal renal tubular acidosis and hypokalemia. </p><p>Boerman et al. (1995) reported a large Dutch family in which 55 members had HOKPP inherited in an autosomal dominant pattern. Nineteen patients had typical episodic attacks of paralysis, whereas 14 had muscle weakness without attacks. Reduced muscle fiber conduction velocity was present. Age of onset ranged from 9 to 19 years of age. </p><p>In a review of 71 patients from 56 kindreds with HOKPP, Miller et al. (2004) found that 64% of kindreds had mutations in either the CACNA1S or SCN4A genes. The arg1239-to-his (R1239H; 114208.0001) and arg528-to-his (R528H; 114208.0003) mutations of the CACNA1S gene were the most common mutations, each found in 42% of kindreds. Five kindreds had SCN4A mutations. No mutations were identified in 20 kindreds. HOKPP patients with mutations had a significantly earlier age at disease onset (10 years) compared to those without mutations (22 years); however, 2 patients with mutations presented at ages 23 and 26 years, respectively. Among those with mutations, the disease was most severe during the teenage years, and 72% of patients had residual muscle weakness. Muscle biopsies showed vacuolar changes in 80% of patients with CACNA1S mutations; these changes were not seen in any patients without mutations. Treatment with acetazolamide was beneficial in 85% of those with mutations and 100% of those without mutations. In a diagnostic flow chart for the periodic paralyses, Miller et al. (2004) indicated that HOKPP shows onset in childhood to adolescence and is characterized by infrequent but severe attacks, often lasting up to 24 hours, and decreased serum potassium. Myotonia is not a feature. </p><p>Chabrier et al. (2008) reported a Turkish boy, born of consanguineous parents, with very early onset of HOKPP at 1 year of age. He showed hypotonia and respiratory insufficiency at birth, which the authors postulated may have been related to the disorder. Although oral potassium supplementation was initiated, he was still symptomatic and showed chronic global muscle weakness at age 6 years. </p><p><strong><em>Clinical Variability</em></strong></p><p>
|
|
Abbott et al. (2001) reported a male proband with atypical HOKPP who was negative for mutations in the SCN4A and CACNA1S genes. He had onset of episodic paralytic weakness at the age of 14 years. Episodes were characterized by weakness primarily affecting the lower extremities and lasting hours to days, and were usually precipitated by strenuous exercise followed by rest or after prolonged sitting. Carbohydrate ingestion did not precipitate attacks, alcohol intake appeared to facilitate recovery from an attack, and potassium had no effect. He was classified as having hypokalemic periodic paralysis because of the typical age of onset, paralytic attacks that most often occurred after exercise, a low potassium level during a spontaneous attack, and the ability to precipitate an attack with insulin and glucose on 1 occasion. Atypical for this diagnosis was that a second provocative test was negative and that attacks usually occurred while awake. </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>In a large family with HOKPP, Buruma et al. (1985) excluded close linkage with 25 genetic marker systems. By studying linkage with polymorphic markers associated with the candidate loci in a single multigenerational pedigree, Casley et al. (1992) excluded all 3 as the site of the mutation in HOKPP: the adult skeletal muscle sodium channel (SCN4A; 603967), the T-cell receptor beta locus (TCRB; see 186930), and the HRAS locus (190020). Fontaine et al. (1991) likewise excluded linkage to the SCN4A gene, and concluded that the hyperkalemic and hypokalemic forms of periodic paralysis are determined by mutations at different loci. </p><p>In a genomewide search in 3 affected European families of different geographic origins, Fontaine et al. (1994) localized the HOKPP gene to chromosome 1q31-q32. They also demonstrated that the CACNL1A3 gene maps to the same region, sharing a 5-cM interval with the HOKPP locus. Moreover, CACNL1A3 was found to cosegregate with hypokalemic periodic paralysis without recombinants in the 2 informative families. This gene encodes a dihydropyridine (DHP) receptor which functions as a voltage-gated calcium channel and is also critical for excitation-contraction coupling in a voltage-sensitive and calcium-independent manner. </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
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Genetic heterogeneity of HOKPP was demonstrated by Plassart et al. (1994), who found that the disorder in a large family of French origin was not genetically linked to 1q32. </p><p>Abbott et al. (2001) reported a male proband with atypical HOKPP who was negative for mutations in the SCN4A and CACNA1S genes. In this patient and in his 2 similarly affected family members, Abbott et al. (2001) identified a substitution in the KCNE3 gene (R83H; 604433.0001). However, studies by Sternberg et al. (2003) and Jurkat-Rott and Lehmann-Horn (2004) concluded that the R83H variant does not play a causative role in periodic paralysis and that it is a polymorphism. For further discussion, see 604433.0001. </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>In 11 of 33 probands with HOKPP, Ptacek et al. (1994) identified mutations in the CACNL1A3 gene (114208.0001; 114208.0002) that occurred at 1 of 2 adjacent nucleotides within the same codon. This was the first human disease to be related to DHP receptor mutations. In a large Dutch family with HOKPP, Boerman et al. (1995) identified a mutation in the CACNL1A3 gene (114208.0003). </p><p>Davies et al. (2001) found that 11 of 36 families with HOKPP harbored mutations in the CACNA1S gene (114208.0001 and 114208.0003), whereas only 1 family had a mutation in the SCN4A gene (603967.0020), suggesting that SCN4A mutations are an uncommon cause of HOKPP in the U.K. Among 58 independent index cases of HOKPP, Sternberg et al. (2001) found that 40 were linked to the CACNA1S gene and 5 to the SCN4A gene, all of which were in the same codon (see, e.g., 603967.0016). Thirteen families remained without known mutations, indicating genetic heterogeneity. </p><p>Chabrier et al. (2008) identified a de novo mutation in the CACNA1S gene (114208.0008) in a Turkish boy with very early onset of HOKPP. </p><p>Matthews et al. (2009) identified mutations in the CACNA1S or SCN4A gene in 74 (almost 90%) of 83 patients with HOKPP. All of the mutations, including 3 novel mutations, affected arginine residues in the S4 voltage sensing region in 1 of the transmembrane domains of each gene. The most common mutations affected residues arg528 (25 cases) and arg1239 (39 cases) in CACNA1S (see, e.g., R1239H; 114208.0001 and R528H; 114208.0003). The most common mutations in SCN4A affected residues arg672 (see, e.g., 603967.0016) and arg1132. The findings supported the hypothesis that loss of positive charge in S4 voltage sensors is important to the pathogenesis of this disorder. (Sokolov et al., 2007). </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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Buruma et al. (1978); Campa and Sanders (1974); Corbett and Nuttall
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(1975); Cusins and Van Rooyen (1963); Horton (1977); Johnsen (1981);
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Kantola and Tarssanen (1992); Pearson and Kalyanaraman (1972);
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Talbott (1941)
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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>REFERENCES</strong>
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</span>
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</h4>
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Ptacek, L. J., Tawil, R., Griggs, R. C., Engel, A. G., Layzer, R. B., Kwiecinski, H., McManis, P. G., Santiago, L., Moore, M., Fouad, G., Bradley, P., Leppert, M. F.
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<strong>Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.</strong>
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<p class="mim-text-font">
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Sagild, U.
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<strong>Hereditary Transient Paralysis.</strong>
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Copenhagen: Munksgaard (pub.) 1959.
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</p>
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</li>
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<li>
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Sokolov, S., Scheuer, T., Catterall, W. A.
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<strong>Gating pore current in an inherited ion channelopathy.</strong>
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Nature 446: 76-78, 2007.
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[PubMed: 17330043]
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[Full Text: https://doi.org/10.1038/nature05598]
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Sternberg, D., Maisonobe, T., Jurkat-Rott, K., Nicole, S., Launay, E., Chauveau, D., Tabti, N., Lehmann-Horn, F., Hainque, B., Fontaine, B.
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<strong>Hypokalaemic periodic paralysis type 2 caused by mutation at codon 672 in the muscle sodium channel gene SCN4A.</strong>
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Brain 124: 1091-1099, 2001.
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[PubMed: 11353725]
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[Full Text: https://doi.org/10.1093/brain/124.6.1091]
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Sternberg, D., Tabti, N., Fournier, E., Hainque, B., Fontaine, B.
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<strong>Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.</strong>
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Neurology 61: 857-859, 2003.
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[PubMed: 14504341]
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[Full Text: https://doi.org/10.1212/01.wnl.0000082392.66713.e3]
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Talbott, J. H.
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<strong>Periodic paralysis: a clinical syndrome.</strong>
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Medicine 20: 85-143, 1941.
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Cassandra L. Kniffin - updated : 3/11/2010<br>Cassandra L. Kniffin - updated : 2/1/2010<br>Cassandra L. Kniffin - updated : 11/24/2009<br>Cassandra L. Kniffin - updated : 2/12/2009<br>Cassandra L. Kniffin - updated : 7/12/2005<br>Cassandra L. Kniffin - updated : 5/9/2005<br>Cassandra L. Kniffin - reorganized : 1/23/2004<br>Cassandra L. Kniffin - updated : 1/15/2004<br>Stylianos E. Antonarakis - updated : 1/30/2001<br>Victor A. McKusick - updated : 9/26/2000
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Victor A. McKusick : 6/2/1986
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