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Entry
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- #170500 - HYPERKALEMIC PERIODIC PARALYSIS; HYPP
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- OMIM
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<p>
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<span class="h4">#170500</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/170500"><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="#biochemicalFeatures">Biochemical 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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=HYPERKALEMIC PERIODIC PARALYSIS" 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=212&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/NBK1496/" 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/8591" 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://medlineplus.gov/genetics/condition/hyperkalemic-periodic-paralysis" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=170500[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=682" 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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:14451" 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/170500" 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://omia.org/OMIA000785/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 304737009<br />
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<strong>ICD10CM:</strong> G72.3<br />
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<strong>ORPHA:</strong> 682<br />
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<strong>DO:</strong> 14451<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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170500
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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HYPERKALEMIC PERIODIC PARALYSIS; HYPP
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA<br />
|
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GAMSTORP DISEASE
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
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NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE, INCLUDED
|
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</span>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<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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<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/17/852?start=-3&limit=10&highlight=852">
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17q23.3
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</a>
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</span>
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<span class="mim-font">
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Hyperkalemic periodic paralysis
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</span>
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<span class="mim-font">
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<a href="/entry/170500"> 170500 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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SCN4A
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<span class="mim-font">
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<a href="/entry/603967"> 603967 </a>
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<a href="/clinicalSynopsis/170500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/170500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/170500" 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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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MUSCLE, SOFT TISSUES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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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Muscle weakness is predominantly of extremities and tongue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868435</a>]</span><br /> -
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Attacks precipitated by rest after exercise <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868436&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868436</a>]</span><br /> -
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Attacks precipitated by cold temperature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868437</a>]</span><br /> -
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Attacks precipitated by potassium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868438</a>]</span><br /> -
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Myotonia is present in majority of cases <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868439</a>]</span><br /> -
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Electrophysiologic studies show abnormal inactivation and delayed repolarization of the SCN4A sodium channel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868440</a>]</span><br /> -
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Myopathic findings on biopsy have been occasionally reported <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868441</a>]</span><br />
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</span>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hyperkalemia during attacks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868442</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000833" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000833</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in infancy or early childhood<br /> -
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Variable phenotype (myotonia may or may not be present) <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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Acetazolamide is often effective<br /> -
|
|
Allelic disorder to paramyotonia congenita (<a href="/entry/168300">168300</a>)<br /> -
|
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Allelic disorder to potassium-aggravated myotonia (<a href="/entry/608390">608390</a>)<br /> -
|
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Allelic disorder to hypokalemic periodic paralysis (HOKPP, <a href="/entry/170400">170400</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutations in the alpha subunit of the type IV voltage-gated sodium channel gene (SCN4A, <a href="/entry/603967#0001">603967.0001</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because hyperkalemic periodic paralysis (HYPP) is caused by heterozygous mutation in the sodium channel gene SCN4A (<a href="/entry/603967">603967</a>) on chromosome 17q23.</p><p>Allelic disorders with overlapping phenotypes include paramyotonia congenita (<a href="/entry/168300">168300</a>) and the potassium-aggravated myotonias (<a href="/entry/608390">608390</a>). Hypokalemic periodic paralysis type 2 (HOKPP2; <a href="/entry/613345">613345</a>) can also be caused by mutation in the SCN4A gene.</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (<a href="#19" 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>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=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><p><a href="#20" class="mim-tip-reference" title="Jurkatt-Rott, K., Lehmann-Horn, F. <strong>Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.</strong> Neurotherapeutics 4: 216-224, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17395131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17395131</a>] [<a href="https://doi.org/10.1016/j.nurt.2007.02.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17395131">Jurkatt-Rott and Lehmann-Horn (2007)</a> provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17395131" 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>Gamstorp (<a href="#10" class="mim-tip-reference" title="Gamstorp, I. <strong>Adynamia episodica hereditaria.</strong> Acta Paediat. 45 (suppl. 108): 1-126, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13313124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13313124</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1956.tb17668.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13313124">1956</a>, <a href="#11" class="mim-tip-reference" title="Gamstorp, I. <strong>Adynamia episodica hereditaria and myotonia.</strong> Acta Neurol. Scand. 39: 41-58, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13946346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13946346</a>] [<a href="https://doi.org/10.1111/j.1600-0404.1963.tb05386.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13946346">1963</a>) first described hyperkalemic periodic paralysis, which she called 'adynamia episodica hereditaria.' Attacks were characterized by muscle weakness, i.e., adynamia, rather than by complete paralysis, and occurred with no recognizable periodicity. Myotonia was sometimes coexistent. <a href="#38" class="mim-tip-reference" title="Samaha, F. J. <strong>Hyperkalemic periodic paralysis: a genetic study, clinical observations, and report of a new method of therapy.</strong> Arch. Neurol. 12: 145-154, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14237771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14237771</a>] [<a href="https://doi.org/10.1001/archneur.1965.00460260035004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14237771">Samaha (1965)</a> reported an affected family in which myotonia was also present. <a href="#42" class="mim-tip-reference" title="van'T Hoff, W. <strong>Familial myotonic periodic paralysis.</strong> Quart. J. Med. 31: 385-402, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13963901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13963901</a>]" pmid="13963901">Van'T Hoff (1962)</a> reported a family in which 9 persons in 4 generations were affected with myotonic periodic paralysis. All suffered from periodic attacks of weakness which could be induced by administering potassium and alleviated by administering calcium. Both between and during attacks, affected persons had myotonic lid lag (ocular muscle myotonia) lasting 15-20 seconds after elevation of the eyes. <a href="#39" class="mim-tip-reference" title="Saunders, M., Ashworth, B., Emery, A. E. H., Benedikz, J. E. G. <strong>Familial myotonic periodic paralysis with muscle wasting.</strong> Brain 91: 295-304, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5721931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5721931</a>] [<a href="https://doi.org/10.1093/brain/91.2.295" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5721931">Saunders et al. (1968)</a> reported familial myotonic periodic paralysis with muscle wasting. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13313124+5721931+13946346+14237771+13963901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Gould, R. J., Steeg, C. N., Eastwood, A. B., Penn, A. S., Rowland, L. P., De Vivo, D. C. <strong>Potentially fatal cardiac dysrhythmia and hyperkalemic periodic paralysis.</strong> Neurology 35: 1208-1212, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4022357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4022357</a>] [<a href="https://doi.org/10.1212/wnl.35.8.1208" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4022357">Gould et al. (1985)</a> reported an 11-year-old boy with hyperkalemic periodic paralysis and bidirectional cardiac dysrhythmia (BVT). The mother also showed BVT, as well as the short stature, microcephaly, and clinodactyly shown by the son. The mother, but not the son, had lingual myotonia, which has been thought by <a href="#27" class="mim-tip-reference" title="Lisak, R. P., Lebeau, J., Tucker, S. H., Rowland, L. P. <strong>Hyperkalemic periodic paralysis and cardiac arrhythmia.</strong> Neurology 22: 810-815, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4673408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4673408</a>] [<a href="https://doi.org/10.1212/wnl.22.8.810" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4673408">Lisak et al. (1972)</a> and by <a href="#23" class="mim-tip-reference" title="Layzer, R. B., Lovelace, R. E., Rowland, L. P. <strong>Hyperkalemic periodic paralysis.</strong> Arch. Neurol. 16: 455-472, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6022527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6022527</a>] [<a href="https://doi.org/10.1001/archneur.1967.00470230007002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6022527">Layzer et al. (1967)</a> to be the minimal expression of this disorder. Sudden death with this cardiac complication has been reported (<a href="#27" class="mim-tip-reference" title="Lisak, R. P., Lebeau, J., Tucker, S. H., Rowland, L. P. <strong>Hyperkalemic periodic paralysis and cardiac arrhythmia.</strong> Neurology 22: 810-815, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4673408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4673408</a>] [<a href="https://doi.org/10.1212/wnl.22.8.810" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4673408">Lisak et al., 1972</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4022357+4673408+6022527" 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="#24" class="mim-tip-reference" title="Lehmann-Horn, F., Kuther, G., Ricker, K., Grafe, P., Ballanyi, K., Rudel, R. <strong>Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH.</strong> Muscle Nerve 10: 363-374, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3587272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3587272</a>] [<a href="https://doi.org/10.1002/mus.880100414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3587272">Lehmann-Horn et al. (1987)</a> recognized 3 types of adynamia episodica: (1) a form in combination with clinical or electromyographic myotonia (<a href="#7" class="mim-tip-reference" title="Carson, M. J., Pearson, C. M. <strong>Familial hyperkalemic periodic paralysis with myotonic features.</strong> J. Pediat. 64: 853-865, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14172234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14172234</a>] [<a href="https://doi.org/10.1016/s0022-3476(64)80643-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14172234">Carson and Pearson, 1964</a>; <a href="#42" class="mim-tip-reference" title="van'T Hoff, W. <strong>Familial myotonic periodic paralysis.</strong> Quart. J. Med. 31: 385-402, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13963901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13963901</a>]" pmid="13963901">van'T Hoff, 1962</a>; <a href="#22" class="mim-tip-reference" title="Krull, G. H., Leijnse, B., De Vlieger, M., Vietor, W. P. J., Ter Braak, J. W. G., Gerbrandy, J. <strong>Myotonia produced by an unknown humoral substance.</strong> Lancet 288: 668-672, 1966. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4163953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4163953</a>] [<a href="https://doi.org/10.1016/s0140-6736(66)92831-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4163953">Krull et al., 1966</a>; <a href="#43" class="mim-tip-reference" title="van der Meulen, J. P., Gilbert, G. J., Kane, C. K. <strong>Familial hyperkalemic paralysis with myotonia.</strong> New Eng. J. Med. 264: 1-6, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13779946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13779946</a>] [<a href="https://doi.org/10.1056/NEJM196101052640101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13779946">van der Meulen et al., 1961</a>); (2) a form without any signs of myotonia (<a href="#3" class="mim-tip-reference" title="Bradley, W. G. <strong>Adynamia episodica hereditaria: clinical, pathological and electrophysiological studies in an affected family.</strong> Brain 92: 345-378, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5790253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5790253</a>] [<a href="https://doi.org/10.1093/brain/92.2.345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5790253">Bradley, 1969</a>); and (3) a form in combination with paramyotonia, which is presumably the same as paramyotonia of von Eulenburg (paramyotonia congenita). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3587272+4163953+13779946+5790253+14172234+13963901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bradley, W. G., Taylor, R., Rice, D. R., Hausmanowa-Petruzewicz, I., Adelman, L. S., Jenkison, M., Jedrzejowska, H., Drac, H., Pendlebury, W. W. <strong>Progressive myopathy in hyperkalemic periodic paralysis.</strong> Arch. Neurol. 47: 1013-1017, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2396930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2396930</a>] [<a href="https://doi.org/10.1001/archneur.1990.00530090091018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2396930">Bradley et al. (1990)</a> suggested that progressive myopathy may be as common in hyperkalemic periodic paralysis as it is in the hypokalemic disorder. They studied 4 families with the hyperkalemic form in which some members developed a progressive myopathy. Episodes of paralysis were prolonged, lasting for months in some cases, and in one case paralysis was sufficiently severe to require ventilatory support. The progressive myopathy tended to develop at a time when attacks of paralysis were decreasing in frequency. Muscle biopsy was consistent with a myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2396930" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Brancati, F., Valente, E. M., Davies, N. P., Sarkozy, A., Sweeney, M. G., LoMonaco, M., Pizzuti, A., Hanna, M. G., Dallapiccola, B. <strong>Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.</strong> J. Neurol. Neurosurg. Psychiat. 74: 1339-1341, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12933953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12933953</a>] [<a href="https://doi.org/10.1136/jnnp.74.9.1339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12933953">Brancati et al. (2003)</a> reported an Italian kindred with 9 individuals affected with a severe form of HYPP and mild features of paramyotonia congenita. Onset of paralytic episodes was in the first 6 to 12 months in all patients. The episodes were frequent, 2 to 3 times per week, lasting 10 minutes to 2 hours, and were usually accompanied by muscle stiffness, usually of the lower limbs. During adolescence, episodes were precipitated by rest after exercise, cold, alcohol intake, and fasting. The frequency and severity of attacks worsened over the years, occurring daily and spontaneously. Five of 6 patients had normal serum potassium during attacks. Diffuse interictal weakness, primarily in the proximal muscles, occurred around the fourth to fifth decade. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12933953" 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="#12" class="mim-tip-reference" title="Gay, S., Dupuis, D., Faivre, L., Masurel-Paulet, A., Labenne, M., Colombani, M., Soichot, P., Huet, F., Hainque, B., Sternberg, D., Fontaine, B., Gouyon, J.-B., Thauvin-Robinet, C. <strong>Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.</strong> Am. J. Med. Genet. 146A: 380-383, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18203179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18203179</a>] [<a href="https://doi.org/10.1002/ajmg.a.32141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18203179">Gay et al. (2008)</a> described a female infant with severe fatal neonatal nondystrophic myotonia who presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold-induced episodes of myotonia and muscle weakness, leading to severe hypoxia and loss of consciousness; she died at 20 months of age following a bronchopulmonary infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18203179" 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>Normokalemic Potassium-Sensitive Periodic Paralysis</em></strong></p><p>
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<a href="#44" class="mim-tip-reference" title="Vicart, S., Sternberg, D., Fournier, E., Ochsner, F., Laforet, P., Kuntzer, T., Eymard, B., Hainque, B., Fontaine, B. <strong>New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.</strong> Neurology 63: 2120-2127, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15596759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15596759</a>] [<a href="https://doi.org/10.1212/01.wnl.0000145768.09934.ec" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15596759">Vicart et al. (2004)</a> reported 4 unrelated families with 'normokalemic potassium-sensitive periodic paralysis' caused by mutation in the SCN4A gene (<a href="/entry/603967#0022">603967.0022</a>-<a href="/entry/603967#0024">603967.0024</a>). In 1 family with at least 5 affected members, age at onset of paralytic attacks ranged from 14 months to 3 years. During childhood and adolescence, the attacks were characterized by generalized weakness; as adults, the attacks were usually restricted to the lower limbs. Most patients reported muscle stiffness, cramping, and pain after the attacks. Two family members had severe attacks after general anesthesia. Repeated serum potassium levels during attacks were normal in 3 patients. Four additional patients from 3 unrelated families had a later age at onset (15 to 23 years) and milder disease course. Myotonia was not a feature in any of the patients, except in 1 patient with lid lag, and most patients responded to acetazolamide treatment. Two unrelated patients demonstrated paralysis after potassium challenge in a controlled situation. <a href="#44" class="mim-tip-reference" title="Vicart, S., Sternberg, D., Fournier, E., Ochsner, F., Laforet, P., Kuntzer, T., Eymard, B., Hainque, B., Fontaine, B. <strong>New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.</strong> Neurology 63: 2120-2127, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15596759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15596759</a>] [<a href="https://doi.org/10.1212/01.wnl.0000145768.09934.ec" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15596759">Vicart et al. (2004)</a> stated that a diagnosis of hyperkalemic periodic paralysis was suggested by the reports of muscle stiffness and cramping as well as EMG findings; however, the finding of normal serum potassium levels during attacks in 5 patients suggested that normokalemic periodic paralysis may be a variable expression of HYPP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15596759" 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 a atypical HYPP who was negative for mutations in the SCN4A gene. He presented at 22 months of age with episodic weakness of the extremities. Most episodes came on during sleep and were brief (12 hours), although they occasionally lasted for days. Serum potassium levels during attacks were normal. High carbohydrate meals helped resolve attacks and treatment with a carbonic anhydrase inhibitor prevented attacks. The age at onset, frequent nature of attacks, and improvement with carbohydrate loading were all consistent with HYPP; however, provocative testing with potassium had not been performed. Frequent attacks upon awakening and absence of myotonia were considered atypical for this diagnosis. <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 intact muscle fibers from a patient with periodic paralysis with myotonia, <a href="#24" class="mim-tip-reference" title="Lehmann-Horn, F., Kuther, G., Ricker, K., Grafe, P., Ballanyi, K., Rudel, R. <strong>Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH.</strong> Muscle Nerve 10: 363-374, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3587272/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3587272</a>] [<a href="https://doi.org/10.1002/mus.880100414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3587272">Lehmann-Horn et al. (1987)</a> found evidence for a noninactivating tetrodotoxin-sensitive sodium channel. In a solution of elevated potassium, the patient muscle depolarized, became inexcitable, and was paralyzed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3587272" 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 hyperkalemic periodic paralysis with myotonia, <a href="#9" class="mim-tip-reference" title="Fontaine, B., Khurana, T. S., Hoffman, E. P., Bruns, G. A. P., Haines, J. L., Trofatter, J. A., Hanson, M. P., Rich, J., McFarlane, H., Yasek, D. M., Romano, D., Gusella, J. F., Brown, R. H., Jr. <strong>Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.</strong> Science 250: 1000-1002, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2173143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2173143</a>] [<a href="https://doi.org/10.1126/science.2173143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2173143">Fontaine et al. (1990)</a> found tight linkage to the human growth hormone gene (GH1; <a href="/entry/139250">139250</a>) on chromosome 17 and to the adult muscle sodium channel alpha-subunit gene (SCN4A) which they had mapped to chromosome 17. Analysis using both the channel probe and the closely linked GH1 yielded a multipoint lod score of 7.02 at theta = 0.00. <a href="#35" class="mim-tip-reference" title="Ptacek, L. J., Tyler, F., Trimmer, J. S., Agnew, W. S., Leppert, M. <strong>Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.</strong> Am. J. Hum. Genet. 49: 378-382, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1651050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1651050</a>]" pmid="1651050">Ptacek et al. (1991)</a> confirmed the linkage in a second large affected family, the first with this disorder to be well characterized (<a href="#41" class="mim-tip-reference" title="Tyler, F. H., Stephens, F. E., Gunn, F. D., Perkoff, G. T. <strong>Studies in disorders of muscle. VII. Clinical manifestations and inheritance of a type of periodic paralysis without hypopotassemia.</strong> J. Clin. Invest. 30: 492-502, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14832379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14832379</a>] [<a href="https://doi.org/10.1172/JCI102465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14832379">Tyler et al., 1951</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2173143+14832379+1651050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Fontaine, B., Khurana, T. S., Hoffman, E. P., Bruns, G. A. P., Haines, J. L., Trofatter, J. A., Hanson, M. P., Rich, J., McFarlane, H., Yasek, D. M., Romano, D., Gusella, J. F., Brown, R. H., Jr. <strong>Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.</strong> Science 250: 1000-1002, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2173143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2173143</a>] [<a href="https://doi.org/10.1126/science.2173143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2173143">Fontaine et al. (1990)</a> referred to a report by G. Couzot in 1887 (cited by <a href="#6" class="mim-tip-reference" title="Burama, O. J. S., Schipperheyn, J. J. <strong>Periodic paralysis. In: Vinken, P. J.; Bruyn, G. W. (eds.): Handbook of Clinical Neurology. Part II, Diseases of Muscle. Vol. 41.</strong> Amsterdam: Elsevier/North Holland (pub.) 1979. Pp. 147-174."None>Burama and Schipperheyn, 1979</a>) of a periodic paralysis pedigree with cosegregating short stature, raising the possibility of a linked GH1 mutation in that family. They stated that recombination between the sodium channel gene and hypokalemic periodic paralysis had been found in at least 1 instance. In 6 European families with HYPP, <a href="#21" class="mim-tip-reference" title="Koch, M. C., Ricker, K., Otto, M., Grimm, T., Hoffman, E. P., Rudel, R., Bender, K., Zoll, B., Harper, P. S., Lehmann-Horn, F. <strong>Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.</strong> J. Med. Genet. 28: 583-586, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683408</a>] [<a href="https://doi.org/10.1136/jmg.28.9.583" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1683408">Koch et al. (1991)</a> demonstrated no recombinants between the disease and both SCN4A and GH1 (maximum lod = 7.14 at theta = 0.00). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1683408+2173143" 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="#34" class="mim-tip-reference" title="Ptacek, L. J., Trimmer, J. S., Agnew, W. S., Roberts, J. W., Petajan, J. H., Leppert, M. <strong>Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.</strong> Am. J. Hum. Genet. 49: 851-854, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1654742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1654742</a>]" pmid="1654742">Ptacek et al. (1991)</a> found close linkage of paramyotonia congenita (PMC) to SCN4A (lod score = 4.4 at theta = 0.0), leading them to suggest that PMC and HYPP are allelic disorders. Using dinucleotide repeat polymorphisms, <a href="#28" class="mim-tip-reference" title="McClatchey, A. I., McKenna-Yasek, D., Cros, D., Worthen, H. G., Kuncl, R. W., DeSilva, S. M., Cornblath, D. R., Gusella, J. F., Brown, R. H., Jr. <strong>Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.</strong> Nature Genet. 2: 148-152, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1338909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1338909</a>] [<a href="https://doi.org/10.1038/ng1092-148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1338909">McClatchey et al. (1992)</a> showed linkage of both HYPP and PMC to the SCN4A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1338909+1654742" 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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<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 a atypical HYPP who was negative for mutations in the SCN4A gene. In this patient and in his mildly affected father, <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="#40" 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="#18" 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 3 of 7 unrelated patients with HYPP, <a href="#33" class="mim-tip-reference" title="Ptacek, L. J., George, A. L., Jr., Griggs, R. C., Tawil, R., Kallen, R. G., Barchi, R. L., Robertson, M., Leppert, M. F. <strong>Identification of a mutation in the gene causing hyperkalemic periodic paralysis.</strong> Cell 67: 1021-1027, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1659948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1659948</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90374-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1659948">Ptacek et al. (1991)</a> identified the same mutation in the SCN4A gene (T704M; <a href="/entry/603967#0001">603967.0001</a>). In a severe form of HYPP with features of PMC, <a href="#5" class="mim-tip-reference" title="Brancati, F., Valente, E. M., Davies, N. P., Sarkozy, A., Sweeney, M. G., LoMonaco, M., Pizzuti, A., Hanna, M. G., Dallapiccola, B. <strong>Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.</strong> J. Neurol. Neurosurg. Psychiat. 74: 1339-1341, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12933953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12933953</a>] [<a href="https://doi.org/10.1136/jnnp.74.9.1339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12933953">Brancati et al. (2003)</a> identified the T704M mutation, demonstrating the wide phenotypic variability of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1659948+12933953" 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 9 of 12 families with HYPP, <a href="#8" class="mim-tip-reference" title="Feero, W. G., Wang, J., Barany, F., Zhou, J., Todorovic, S. M., Conwit, R., Galloway, G., Hausmanowa-Petrusewicz, I., Fidzianska, A., Arahata, K., Wessel, H. B., Wadelius, C., Marks, H. G., Hartlage, P., Hayakawa, H., Hoffman, E. P. <strong>Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families.</strong> Neurology 43: 668-673, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8385748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8385748</a>] [<a href="https://doi.org/10.1212/wnl.43.4.668" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8385748">Feero et al. (1993)</a> identified mutations in the SCN4A gene: 3 families with M1592V (<a href="/entry/603967#0002">603967.0002</a>), and 6 with T704M (<a href="/entry/603967#0001">603967.0001</a>). No mutation was identified in 3 affected families, and in 1 of these 3 families the disease was not linked to the SCN4A gene, suggesting the existence of a clinically similar but genetically distinct form of hyperkalemic periodic paralysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8385748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Hisama, F. M. <strong>Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.</strong> Arch. Neurol. 62: 135-138, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15642860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15642860</a>] [<a href="https://doi.org/10.1001/archneur.62.1.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15642860">Hisama (2005)</a> described a 7-generation family in which multiple members were affected with a complicated neurologic phenotype including variable features of neuropathy, myotonia, and periodic paralysis. The same family had been described in the medical literature since 1934. The proband had late-onset demyelinating Charcot-Marie-Tooth disease (CMT1B; <a href="/entry/118200">118200</a>), muscle cramping, and myotonia. His sister had hyperkalemic periodic paralysis, and his father had severe childhood-onset CMT and periodic paralysis. Multiple other relatives had similar features of 1 or both disorders. Molecular analysis identified a missense mutation in the MPZ gene (<a href="/entry/159440">159440</a>) in the proband and a missense mutation in the SCN4A gene (<a href="/entry/603967#0001">603967.0001</a>) in the sister; the father was deceased. One other family member tested had the MPZ mutation, and 4 other family members had the SCN4A mutation. <a href="#16" class="mim-tip-reference" title="Hisama, F. M. <strong>Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.</strong> Arch. Neurol. 62: 135-138, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15642860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15642860</a>] [<a href="https://doi.org/10.1001/archneur.62.1.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15642860">Hisama (2005)</a> commented on the unusual occurrence of 2 genetically unlinked neurologic disorders in this family and emphasized the diagnostic difficulties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15642860" 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 female infant with severe fatal neonatal nondystrophic myotonia and overlapping features of PMC and HYPP, <a href="#12" class="mim-tip-reference" title="Gay, S., Dupuis, D., Faivre, L., Masurel-Paulet, A., Labenne, M., Colombani, M., Soichot, P., Huet, F., Hainque, B., Sternberg, D., Fontaine, B., Gouyon, J.-B., Thauvin-Robinet, C. <strong>Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.</strong> Am. J. Med. Genet. 146A: 380-383, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18203179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18203179</a>] [<a href="https://doi.org/10.1002/ajmg.a.32141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18203179">Gay et al. (2008)</a> identified a heterozygous mutation (N1297K; <a href="/entry/603967#0027">603967.0027</a>) in the SCN4A gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18203179" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#30" 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> identified mutations in the SCN4A gene in 30 of 47 (64%) kindreds with HYPP; 10 kindreds had the T704M (<a href="/entry/603967#0001">603967.0001</a>) mutation and 10 had the M1592V (<a href="/entry/603967#0002">603967.0002</a>) mutation. The average age at onset in patients with mutations was 2 years, compared to 14 years in those without mutations. Clinical myotonia occurred in 74% of patients with mutations and 55% of patients without mutations. Muscle biopsy showed vacuolar myopathy in 67% of patients with mutations. Patients with the T704M mutation had onset before age 1 year, had increased frequency of attacks compared to others, and had a 50% chance of favorable response to acetazolamide. In a diagnostic flow chart for the periodic paralyses, <a href="#30" 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 HYPP shows early onset and is characterized by frequent attacks lasting less than 24 hours with increased serum potassium levels. <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>
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<p><a href="#25" class="mim-tip-reference" title="Lehmann-Horn, F., Rudel, R., Ricker, K. <strong>Non-dystrophic myotonias and periodic paralyses.</strong> Neuromusc. Disord. 3: 161-168, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7689382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7689382</a>] [<a href="https://doi.org/10.1016/0960-8966(93)90009-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7689382">Lehmann-Horn et al. (1993)</a> suggested the term 'sodium channel disease' to encompass the different allelic syndromes caused by SCN4A mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7689382" 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 Quarter horses, <a href="#36" class="mim-tip-reference" title="Rudolph, J. A., Spier, S. J., Byrns, G., Hoffman, E. P. <strong>Linkage of hyperkalaemic periodic paralysis in Quarter horses to the horse adult skeletal muscle sodium channel gene.</strong> Anim. Genet. 23: 241-250, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1323940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1323940</a>] [<a href="https://doi.org/10.1111/j.1365-2052.1992.tb00136.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1323940">Rudolph et al. (1992)</a> found tight linkage of hyperkalemic periodic paralysis to the SCN4A gene, indicating that it is an authentic model of the human disease. <a href="#37" class="mim-tip-reference" title="Rudolph, J. A., Spier, S. J., Byrns, G., Rojas, C. V., Bernoco, D., Hoffman, E. P. <strong>Periodic paralysis in Quarter horses: a sodium channel mutation disseminated by selective breeding.</strong> Nature Genet. 2: 144-147, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1338908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1338908</a>] [<a href="https://doi.org/10.1038/ng1092-144" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1338908">Rudolph et al. (1992)</a> identified a phe-to-leu mutation in transmembrane domain IVS-3 of the SCN4A gene as the cause of the horse disease. The experience reflects the adverse effect of purposeful breeding in thoroughbreds; only 4 stallions were said to be responsible for 30% of the gene pool. Quarter horses, the most popular equine breed in the United States, were originally bred in the 1600s to run the one-quarter mile. Pronounced muscularity was a desirable trait and frequently mentioned in the descriptions of the breed. It has been suggested that the spontaneous electrical activity detected by electromyography in HYPP-afflicted horses may lead to the muscular hypertrophy characteristic of this line. HYPP in horses as in humans shows dominant inheritance, potassium induction of attacks, elevated serum potassium during attacks, and membrane potential abnormalities in isolated muscle cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1323940+1338908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Hayward, L. J., Kim, J. S., Lee, M.-Y., Zhou, H., Kim, J. W., Misra, K., Salajegheh, M., Wu, F., Matsuda, C., Reid, V., Cros, D., Hoffman, E. P., Renaud, J.-M., Cannon, S. C., Brown, R. H., Jr. <strong>Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.</strong> J. Clin. Invest. 118: 1437-1449, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18317596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18317596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18317596[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI32638" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18317596">Hayward et al. (2008)</a> introduced a missense substitution corresponding to the human M1592V mutation into the mouse Scn4a gene and found that few homozygous mutant (m/m) mice survived and those that did showed fixed limb weakness, muscle atrophy, and abnormal muscle morphology. Heterozygous (+/m) mice showed only a mild myopathy at 4 months of age, but myopathic changes developed with age and included electrical myotonia, fiber type switching to a more oxidative type, size variation, and internalized nuclei, and +/m muscle developed less tetanic force and exhibited slower relaxation compared with muscle from wildtype controls. Rapid and sustained weakness of isolated mutant muscle was induced when the extracellular K+ concentration was increased to that observed in exercising human muscle interstitium, and weakness was exacerbated by lowering extracellular Ca(2+) and by partial inhibition of the Na+/K+ pump. Mutant muscle recovered from stimulation-induced fatigue more slowly than did control muscle, particularly in the presence of high extracellular K+. <a href="#14" class="mim-tip-reference" title="Hayward, L. J., Kim, J. S., Lee, M.-Y., Zhou, H., Kim, J. W., Misra, K., Salajegheh, M., Wu, F., Matsuda, C., Reid, V., Cros, D., Hoffman, E. P., Renaud, J.-M., Cannon, S. C., Brown, R. H., Jr. <strong>Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.</strong> J. Clin. Invest. 118: 1437-1449, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18317596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18317596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18317596[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI32638" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18317596">Hayward et al. (2008)</a> concluded that this myotonia is consistent with persistent Na+ influx through the noninactivating mutant Na+ channel that mildly depolarizes the membrane and thereby increases excitability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18317596" 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="#Armstrong1962" class="mim-tip-reference" title="Armstrong, F. S. <strong>Hyperkalemic familial periodic paralysis (adynamia episodica hereditaria).</strong> Ann. Intern. Med. 57: 455-461, 1962.">Armstrong (1962)</a>; <a href="#Herman1963" class="mim-tip-reference" title="Herman, R. H., McDowell, M. K. <strong>Hyperkalemic paralysis (adynamia episodica hereditaria): report of 4 cases and clinical studies.</strong> Am. J. Med. 35: 749-767, 1963.">Herman and McDowell (1963)</a>; <a href="#Hoskins1975" class="mim-tip-reference" title="Hoskins, B., Vroom, F. Q., Jarrell, M. A. <strong>Hyperkalemic periodic paralysis: effects of potassium, exercise, glucose, and acetazolamide on blood chemistry.</strong> Arch. Neurol. 32: 519-523, 1975.">Hoskins et al. (1975)</a>; <a href="#Levitt1992" class="mim-tip-reference" title="Levitt, R. C., Olckers, A., Meyers, S., Fletcher, J. E., Rosenberg, H., Isaacs, H., Meyers, D. A. <strong>Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q.</strong> Genomics 14: 562-566, 1992.">Levitt et al. (1992)</a>; <a href="#McClatchey1992" class="mim-tip-reference" title="McClatchey, A. I., Trofatter, J., McKenna-Yasek, D., Raskind, W., Bird, T., Pericak-Vance, M., Gilchrist, J., Arahata, K., Radosavljevic, D., Worthen, H. G., Van den Bergh, P., Haines, J. L., Gusella, J. F., Brown, R. H., Jr. <strong>Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.</strong> Am. J. Hum. Genet. 50: 896-901, 1992. Note: Erratum: Am. J. Hum. Genet. 51: 942 only, 1992.">McClatchey et al. (1992)</a>; <a href="#Moslehi1998" class="mim-tip-reference" title="Moslehi, R., Langlois, S., Yam, I., Friedman, J. M. <strong>Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.</strong> Am. J. Med. Genet. 76: 21-27, 1998.">Moslehi et al.
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(1998)</a>; <a href="#Olckers1992" class="mim-tip-reference" title="Olckers, A., Meyers, D. A., Meyers, S., Taylor, E. W., Fletcher, J. E., Rosenberg, H., Isaacs, H., Levitt, R. C. <strong>Adult muscle sodium channel alpha-subunit is a gene candidate for malignant hyperthermia susceptibility.</strong> Genomics 14: 829-831, 1992.">Olckers et al. (1992)</a>; <a href="#Wang1976" class="mim-tip-reference" title="Wang, P., Clausen, T. <strong>Treatment of attacks in hyperkalaemic familial periodic paralysis by inhalation of salbutamol.</strong> Lancet 307: 221-223, 1976. Note: Originally Volume I.">Wang and Clausen (1976)</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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Armstrong, F. S.
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<strong>Hyperkalemic familial periodic paralysis (adynamia episodica hereditaria).</strong>
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Ann. Intern. Med. 57: 455-461, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13862370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13862370</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13862370" 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/10.7326/0003-4819-57-3-455" target="_blank">Full Text</a>]
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Bradley, W. G.
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<strong>Adynamia episodica hereditaria: clinical, pathological and electrophysiological studies in an affected family.</strong>
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Brain 92: 345-378, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5790253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5790253</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5790253" 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/92.2.345" target="_blank">Full Text</a>]
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Bradley, W. G., Taylor, R., Rice, D. R., Hausmanowa-Petruzewicz, I., Adelman, L. S., Jenkison, M., Jedrzejowska, H., Drac, H., Pendlebury, W. W.
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<strong>Progressive myopathy in hyperkalemic periodic paralysis.</strong>
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Arch. Neurol. 47: 1013-1017, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2396930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2396930</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2396930" 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.1990.00530090091018" target="_blank">Full Text</a>]
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Brancati, F., Valente, E. M., Davies, N. P., Sarkozy, A., Sweeney, M. G., LoMonaco, M., Pizzuti, A., Hanna, M. G., Dallapiccola, B.
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<strong>Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.</strong>
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J. Neurol. Neurosurg. Psychiat. 74: 1339-1341, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12933953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12933953</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12933953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jnnp.74.9.1339" target="_blank">Full Text</a>]
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Burama, O. J. S., Schipperheyn, J. J.
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<strong>Periodic paralysis. In: Vinken, P. J.; Bruyn, G. W. (eds.): Handbook of Clinical Neurology. Part II, Diseases of Muscle. Vol. 41.</strong>
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Amsterdam: Elsevier/North Holland (pub.) 1979. Pp. 147-174.
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Carson, M. J., Pearson, C. M.
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<strong>Familial hyperkalemic periodic paralysis with myotonic features.</strong>
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J. Pediat. 64: 853-865, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14172234/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14172234</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14172234" 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/s0022-3476(64)80643-0" target="_blank">Full Text</a>]
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Feero, W. G., Wang, J., Barany, F., Zhou, J., Todorovic, S. M., Conwit, R., Galloway, G., Hausmanowa-Petrusewicz, I., Fidzianska, A., Arahata, K., Wessel, H. B., Wadelius, C., Marks, H. G., Hartlage, P., Hayakawa, H., Hoffman, E. P.
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<strong>Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families.</strong>
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Neurology 43: 668-673, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8385748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8385748</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8385748" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.43.4.668" target="_blank">Full Text</a>]
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Fontaine, B., Khurana, T. S., Hoffman, E. P., Bruns, G. A. P., Haines, J. L., Trofatter, J. A., Hanson, M. P., Rich, J., McFarlane, H., Yasek, D. M., Romano, D., Gusella, J. F., Brown, R. H., Jr.
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<strong>Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.</strong>
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Science 250: 1000-1002, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2173143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2173143</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2173143" 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/10.1126/science.2173143" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1956.tb17668.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1600-0404.1963.tb05386.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32141" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.35.8.1208" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI32638" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9343(63)90238-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.62.1.135" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1975.00490500039003" 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/10.1016/j.nurt.2007.02.001" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.28.9.583" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(66)92831-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1967.00470230007002" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/mus.880100414" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0960-8966(93)90009-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0888-7543(05)80152-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.22.8.810" target="_blank">Full Text</a>]
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McClatchey, A. I., McKenna-Yasek, D., Cros, D., Worthen, H. G., Kuncl, R. W., DeSilva, S. M., Cornblath, D. R., Gusella, J. F., Brown, R. H., Jr.
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[<a href="https://doi.org/10.1038/ng1092-148" target="_blank">Full Text</a>]
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<strong>Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.</strong>
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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/10.1016/s0888-7543(05)80206-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0092-8674(91)90374-8" target="_blank">Full Text</a>]
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<strong>Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.</strong>
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Am. J. Hum. Genet. 49: 851-854, 1991.
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<strong>Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1651050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1651050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1651050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Linkage of hyperkalaemic periodic paralysis in Quarter horses to the horse adult skeletal muscle sodium channel gene.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1323940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1323940</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1323940" 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/10.1111/j.1365-2052.1992.tb00136.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1092-144" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1965.00460260035004" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/91.2.295" target="_blank">Full Text</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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[<a href="https://doi.org/10.1056/NEJM196101052640101" target="_blank">Full Text</a>]
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<a id="Vicart2004" class="mim-anchor"></a>
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<p class="mim-text-font">
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Vicart, S., Sternberg, D., Fournier, E., Ochsner, F., Laforet, P., Kuntzer, T., Eymard, B., Hainque, B., Fontaine, B.
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<strong>New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.</strong>
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Neurology 63: 2120-2127, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15596759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15596759</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15596759" 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.0000145768.09934.ec" target="_blank">Full Text</a>]
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<a id="45" class="mim-anchor"></a>
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<a id="Wang1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, P., Clausen, T.
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<strong>Treatment of attacks in hyperkalaemic familial periodic paralysis by inhalation of salbutamol.</strong>
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Lancet 307: 221-223, 1976. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/55532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">55532</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=55532" 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/s0140-6736(76)91340-4" target="_blank">Full Text</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 : 11/24/2009
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/24/2008<br>Ada Hamosh - updated : 6/20/2007<br>Cassandra L. Kniffin - updated : 5/9/2005<br>Cassandra L. Kniffin - updated : 1/27/2005<br>Cassandra L. Kniffin - reorganized : 1/23/2004<br>Victor A. McKusick - updated : 7/2/1999<br>Victor A. McKusick - updated : 2/15/1999<br>Victor A. McKusick - updated : 3/19/1998<br>Victor A. McKusick - updated : 6/20/1997<br>Victor A. McKusick - updated : 2/3/1997<br>Orest Hurko - updated : 4/2/1996<br>Orest Hurko - updated : 3/6/1996
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 10/14/2016
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carol : 11/30/2015<br>terry : 11/29/2012<br>wwang : 3/19/2010<br>ckniffin : 3/11/2010<br>ckniffin : 11/24/2009<br>terry : 2/6/2009<br>wwang : 7/23/2008<br>wwang : 4/25/2008<br>terry : 4/24/2008<br>alopez : 6/27/2007<br>terry : 6/20/2007<br>ckniffin : 5/9/2005<br>tkritzer : 3/18/2005<br>ckniffin : 3/16/2005<br>tkritzer : 2/1/2005<br>ckniffin : 1/27/2005<br>carol : 1/23/2004<br>ckniffin : 1/15/2004<br>terry : 2/12/2001<br>mgross : 1/30/2001<br>mcapotos : 10/6/2000<br>carol : 10/6/2000<br>carol : 7/13/1999<br>carol : 7/7/1999<br>carol : 7/7/1999<br>terry : 7/7/1999<br>terry : 7/2/1999<br>carol : 2/16/1999<br>terry : 2/15/1999<br>carol : 2/3/1999<br>alopez : 3/23/1998<br>terry : 3/19/1998<br>alopez : 7/31/1997<br>jenny : 6/20/1997<br>terry : 2/3/1997<br>terry : 4/15/1996<br>mark : 4/2/1996<br>terry : 4/1/1996<br>terry : 3/26/1996<br>mark : 3/6/1996<br>terry : 2/29/1996<br>terry : 11/7/1995<br>mimadm : 3/25/1995<br>carol : 2/21/1995<br>davew : 8/3/1994<br>jason : 7/18/1994<br>warfield : 4/12/1994
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<span class="mim-font">
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<strong>#</strong> 170500
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HYPERKALEMIC PERIODIC PARALYSIS; HYPP
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<em>Alternative titles; symbols</em>
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ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA<br />
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GAMSTORP DISEASE
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Other entities represented in this entry:
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<span class="h3 mim-font">
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NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE, INCLUDED
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<strong>SNOMEDCT:</strong> 304737009;
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<strong>ICD10CM:</strong> G72.3;
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<strong>ORPHA:</strong> 682;
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<strong>DO:</strong> 14451;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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17q23.3
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<span class="mim-font">
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Hyperkalemic periodic paralysis
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<span class="mim-font">
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170500
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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SCN4A
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</td>
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<td>
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<span class="mim-font">
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603967
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because hyperkalemic periodic paralysis (HYPP) is caused by heterozygous mutation in the sodium channel gene SCN4A (603967) on chromosome 17q23.</p><p>Allelic disorders with overlapping phenotypes include paramyotonia congenita (168300) and the potassium-aggravated myotonias (608390). Hypokalemic periodic paralysis type 2 (HOKPP2; 613345) can also be caused by mutation in the SCN4A gene.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al., 2000). </p><p>Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP. </p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Gamstorp (1956, 1963) first described hyperkalemic periodic paralysis, which she called 'adynamia episodica hereditaria.' Attacks were characterized by muscle weakness, i.e., adynamia, rather than by complete paralysis, and occurred with no recognizable periodicity. Myotonia was sometimes coexistent. Samaha (1965) reported an affected family in which myotonia was also present. Van'T Hoff (1962) reported a family in which 9 persons in 4 generations were affected with myotonic periodic paralysis. All suffered from periodic attacks of weakness which could be induced by administering potassium and alleviated by administering calcium. Both between and during attacks, affected persons had myotonic lid lag (ocular muscle myotonia) lasting 15-20 seconds after elevation of the eyes. Saunders et al. (1968) reported familial myotonic periodic paralysis with muscle wasting. </p><p>Gould et al. (1985) reported an 11-year-old boy with hyperkalemic periodic paralysis and bidirectional cardiac dysrhythmia (BVT). The mother also showed BVT, as well as the short stature, microcephaly, and clinodactyly shown by the son. The mother, but not the son, had lingual myotonia, which has been thought by Lisak et al. (1972) and by Layzer et al. (1967) to be the minimal expression of this disorder. Sudden death with this cardiac complication has been reported (Lisak et al., 1972). </p><p>Lehmann-Horn et al. (1987) recognized 3 types of adynamia episodica: (1) a form in combination with clinical or electromyographic myotonia (Carson and Pearson, 1964; van'T Hoff, 1962; Krull et al., 1966; van der Meulen et al., 1961); (2) a form without any signs of myotonia (Bradley, 1969); and (3) a form in combination with paramyotonia, which is presumably the same as paramyotonia of von Eulenburg (paramyotonia congenita). </p><p>Bradley et al. (1990) suggested that progressive myopathy may be as common in hyperkalemic periodic paralysis as it is in the hypokalemic disorder. They studied 4 families with the hyperkalemic form in which some members developed a progressive myopathy. Episodes of paralysis were prolonged, lasting for months in some cases, and in one case paralysis was sufficiently severe to require ventilatory support. The progressive myopathy tended to develop at a time when attacks of paralysis were decreasing in frequency. Muscle biopsy was consistent with a myopathy. </p><p>Brancati et al. (2003) reported an Italian kindred with 9 individuals affected with a severe form of HYPP and mild features of paramyotonia congenita. Onset of paralytic episodes was in the first 6 to 12 months in all patients. The episodes were frequent, 2 to 3 times per week, lasting 10 minutes to 2 hours, and were usually accompanied by muscle stiffness, usually of the lower limbs. During adolescence, episodes were precipitated by rest after exercise, cold, alcohol intake, and fasting. The frequency and severity of attacks worsened over the years, occurring daily and spontaneously. Five of 6 patients had normal serum potassium during attacks. Diffuse interictal weakness, primarily in the proximal muscles, occurred around the fourth to fifth decade. </p><p>Gay et al. (2008) described a female infant with severe fatal neonatal nondystrophic myotonia who presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold-induced episodes of myotonia and muscle weakness, leading to severe hypoxia and loss of consciousness; she died at 20 months of age following a bronchopulmonary infection. </p><p><strong><em>Normokalemic Potassium-Sensitive Periodic Paralysis</em></strong></p><p>
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Vicart et al. (2004) reported 4 unrelated families with 'normokalemic potassium-sensitive periodic paralysis' caused by mutation in the SCN4A gene (603967.0022-603967.0024). In 1 family with at least 5 affected members, age at onset of paralytic attacks ranged from 14 months to 3 years. During childhood and adolescence, the attacks were characterized by generalized weakness; as adults, the attacks were usually restricted to the lower limbs. Most patients reported muscle stiffness, cramping, and pain after the attacks. Two family members had severe attacks after general anesthesia. Repeated serum potassium levels during attacks were normal in 3 patients. Four additional patients from 3 unrelated families had a later age at onset (15 to 23 years) and milder disease course. Myotonia was not a feature in any of the patients, except in 1 patient with lid lag, and most patients responded to acetazolamide treatment. Two unrelated patients demonstrated paralysis after potassium challenge in a controlled situation. Vicart et al. (2004) stated that a diagnosis of hyperkalemic periodic paralysis was suggested by the reports of muscle stiffness and cramping as well as EMG findings; however, the finding of normal serum potassium levels during attacks in 5 patients suggested that normokalemic periodic paralysis may be a variable expression of HYPP. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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|
Abbott et al. (2001) reported a male proband with a atypical HYPP who was negative for mutations in the SCN4A gene. He presented at 22 months of age with episodic weakness of the extremities. Most episodes came on during sleep and were brief (12 hours), although they occasionally lasted for days. Serum potassium levels during attacks were normal. High carbohydrate meals helped resolve attacks and treatment with a carbonic anhydrase inhibitor prevented attacks. The age at onset, frequent nature of attacks, and improvement with carbohydrate loading were all consistent with HYPP; however, provocative testing with potassium had not been performed. Frequent attacks upon awakening and absence of myotonia were considered atypical for this diagnosis. </p>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical 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>In intact muscle fibers from a patient with periodic paralysis with myotonia, Lehmann-Horn et al. (1987) found evidence for a noninactivating tetrodotoxin-sensitive sodium channel. In a solution of elevated potassium, the patient muscle depolarized, became inexcitable, and was paralyzed. </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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<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 hyperkalemic periodic paralysis with myotonia, Fontaine et al. (1990) found tight linkage to the human growth hormone gene (GH1; 139250) on chromosome 17 and to the adult muscle sodium channel alpha-subunit gene (SCN4A) which they had mapped to chromosome 17. Analysis using both the channel probe and the closely linked GH1 yielded a multipoint lod score of 7.02 at theta = 0.00. Ptacek et al. (1991) confirmed the linkage in a second large affected family, the first with this disorder to be well characterized (Tyler et al., 1951). </p><p>Fontaine et al. (1990) referred to a report by G. Couzot in 1887 (cited by Burama and Schipperheyn, 1979) of a periodic paralysis pedigree with cosegregating short stature, raising the possibility of a linked GH1 mutation in that family. They stated that recombination between the sodium channel gene and hypokalemic periodic paralysis had been found in at least 1 instance. In 6 European families with HYPP, Koch et al. (1991) demonstrated no recombinants between the disease and both SCN4A and GH1 (maximum lod = 7.14 at theta = 0.00). </p><p>Ptacek et al. (1991) found close linkage of paramyotonia congenita (PMC) to SCN4A (lod score = 4.4 at theta = 0.0), leading them to suggest that PMC and HYPP are allelic disorders. Using dinucleotide repeat polymorphisms, McClatchey et al. (1992) showed linkage of both HYPP and PMC to the SCN4A gene. </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
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Abbott et al. (2001) reported a male proband with a atypical HYPP who was negative for mutations in the SCN4A gene. In this patient and in his mildly affected father, 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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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>In 3 of 7 unrelated patients with HYPP, Ptacek et al. (1991) identified the same mutation in the SCN4A gene (T704M; 603967.0001). In a severe form of HYPP with features of PMC, Brancati et al. (2003) identified the T704M mutation, demonstrating the wide phenotypic variability of the disorder. </p><p>In 9 of 12 families with HYPP, Feero et al. (1993) identified mutations in the SCN4A gene: 3 families with M1592V (603967.0002), and 6 with T704M (603967.0001). No mutation was identified in 3 affected families, and in 1 of these 3 families the disease was not linked to the SCN4A gene, suggesting the existence of a clinically similar but genetically distinct form of hyperkalemic periodic paralysis. </p><p>Hisama (2005) described a 7-generation family in which multiple members were affected with a complicated neurologic phenotype including variable features of neuropathy, myotonia, and periodic paralysis. The same family had been described in the medical literature since 1934. The proband had late-onset demyelinating Charcot-Marie-Tooth disease (CMT1B; 118200), muscle cramping, and myotonia. His sister had hyperkalemic periodic paralysis, and his father had severe childhood-onset CMT and periodic paralysis. Multiple other relatives had similar features of 1 or both disorders. Molecular analysis identified a missense mutation in the MPZ gene (159440) in the proband and a missense mutation in the SCN4A gene (603967.0001) in the sister; the father was deceased. One other family member tested had the MPZ mutation, and 4 other family members had the SCN4A mutation. Hisama (2005) commented on the unusual occurrence of 2 genetically unlinked neurologic disorders in this family and emphasized the diagnostic difficulties. </p><p>In a female infant with severe fatal neonatal nondystrophic myotonia and overlapping features of PMC and HYPP, Gay et al. (2008) identified a heterozygous mutation (N1297K; 603967.0027) in the SCN4A gene. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</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>Miller et al. (2004) identified mutations in the SCN4A gene in 30 of 47 (64%) kindreds with HYPP; 10 kindreds had the T704M (603967.0001) mutation and 10 had the M1592V (603967.0002) mutation. The average age at onset in patients with mutations was 2 years, compared to 14 years in those without mutations. Clinical myotonia occurred in 74% of patients with mutations and 55% of patients without mutations. Muscle biopsy showed vacuolar myopathy in 67% of patients with mutations. Patients with the T704M mutation had onset before age 1 year, had increased frequency of attacks compared to others, and had a 50% chance of favorable response to acetazolamide. In a diagnostic flow chart for the periodic paralyses, Miller et al. (2004) indicated that HYPP shows early onset and is characterized by frequent attacks lasting less than 24 hours with increased serum potassium levels. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</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>Lehmann-Horn et al. (1993) suggested the term 'sodium channel disease' to encompass the different allelic syndromes caused by SCN4A mutations. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>In Quarter horses, Rudolph et al. (1992) found tight linkage of hyperkalemic periodic paralysis to the SCN4A gene, indicating that it is an authentic model of the human disease. Rudolph et al. (1992) identified a phe-to-leu mutation in transmembrane domain IVS-3 of the SCN4A gene as the cause of the horse disease. The experience reflects the adverse effect of purposeful breeding in thoroughbreds; only 4 stallions were said to be responsible for 30% of the gene pool. Quarter horses, the most popular equine breed in the United States, were originally bred in the 1600s to run the one-quarter mile. Pronounced muscularity was a desirable trait and frequently mentioned in the descriptions of the breed. It has been suggested that the spontaneous electrical activity detected by electromyography in HYPP-afflicted horses may lead to the muscular hypertrophy characteristic of this line. HYPP in horses as in humans shows dominant inheritance, potassium induction of attacks, elevated serum potassium during attacks, and membrane potential abnormalities in isolated muscle cells. </p><p>Hayward et al. (2008) introduced a missense substitution corresponding to the human M1592V mutation into the mouse Scn4a gene and found that few homozygous mutant (m/m) mice survived and those that did showed fixed limb weakness, muscle atrophy, and abnormal muscle morphology. Heterozygous (+/m) mice showed only a mild myopathy at 4 months of age, but myopathic changes developed with age and included electrical myotonia, fiber type switching to a more oxidative type, size variation, and internalized nuclei, and +/m muscle developed less tetanic force and exhibited slower relaxation compared with muscle from wildtype controls. Rapid and sustained weakness of isolated mutant muscle was induced when the extracellular K+ concentration was increased to that observed in exercising human muscle interstitium, and weakness was exacerbated by lowering extracellular Ca(2+) and by partial inhibition of the Na+/K+ pump. Mutant muscle recovered from stimulation-induced fatigue more slowly than did control muscle, particularly in the presence of high extracellular K+. Hayward et al. (2008) concluded that this myotonia is consistent with persistent Na+ influx through the noninactivating mutant Na+ channel that mildly depolarizes the membrane and thereby increases excitability. </p>
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</span>
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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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Armstrong (1962); Herman and McDowell (1963); Hoskins et al. (1975);
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Levitt et al. (1992); McClatchey et al. (1992); Moslehi et al.
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(1998); Olckers et al. (1992); Wang and Clausen (1976)
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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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<div>
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<p />
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</div>
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<ol>
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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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<p class="mim-text-font">
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Armstrong, F. S.
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<strong>Hyperkalemic familial periodic paralysis (adynamia episodica hereditaria).</strong>
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Ann. Intern. Med. 57: 455-461, 1962.
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Bradley, W. G.
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Bradley, W. G., Taylor, R., Rice, D. R., Hausmanowa-Petruzewicz, I., Adelman, L. S., Jenkison, M., Jedrzejowska, H., Drac, H., Pendlebury, W. W.
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Brancati, F., Valente, E. M., Davies, N. P., Sarkozy, A., Sweeney, M. G., LoMonaco, M., Pizzuti, A., Hanna, M. G., Dallapiccola, B.
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Burama, O. J. S., Schipperheyn, J. J.
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<strong>Periodic paralysis. In: Vinken, P. J.; Bruyn, G. W. (eds.): Handbook of Clinical Neurology. Part II, Diseases of Muscle. Vol. 41.</strong>
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Feero, W. G., Wang, J., Barany, F., Zhou, J., Todorovic, S. M., Conwit, R., Galloway, G., Hausmanowa-Petrusewicz, I., Fidzianska, A., Arahata, K., Wessel, H. B., Wadelius, C., Marks, H. G., Hartlage, P., Hayakawa, H., Hoffman, E. P.
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<strong>Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families.</strong>
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Neurology 43: 668-673, 1993.
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[Full Text: https://doi.org/10.1212/wnl.43.4.668]
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Fontaine, B., Khurana, T. S., Hoffman, E. P., Bruns, G. A. P., Haines, J. L., Trofatter, J. A., Hanson, M. P., Rich, J., McFarlane, H., Yasek, D. M., Romano, D., Gusella, J. F., Brown, R. H., Jr.
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<strong>Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.</strong>
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Science 250: 1000-1002, 1990.
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Gamstorp, I.
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Gamstorp, I.
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<strong>Adynamia episodica hereditaria and myotonia.</strong>
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Acta Neurol. Scand. 39: 41-58, 1963.
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[Full Text: https://doi.org/10.1111/j.1600-0404.1963.tb05386.x]
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Gay, S., Dupuis, D., Faivre, L., Masurel-Paulet, A., Labenne, M., Colombani, M., Soichot, P., Huet, F., Hainque, B., Sternberg, D., Fontaine, B., Gouyon, J.-B., Thauvin-Robinet, C.
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<strong>Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.</strong>
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Gould, R. J., Steeg, C. N., Eastwood, A. B., Penn, A. S., Rowland, L. P., De Vivo, D. C.
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<strong>Potentially fatal cardiac dysrhythmia and hyperkalemic periodic paralysis.</strong>
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<strong>Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.</strong>
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Herman, R. H., McDowell, M. K.
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Hisama, F. M.
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<strong>Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.</strong>
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Arch. Neurol. 62: 135-138, 2005.
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Hoskins, B., Vroom, F. Q., Jarrell, M. A.
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<strong>Hyperkalemic periodic paralysis: effects of potassium, exercise, glucose, and acetazolamide on blood chemistry.</strong>
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Arch. Neurol. 32: 519-523, 1975.
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[PubMed: 239668]
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<p class="mim-text-font">
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Jurkat-Rott, K., Lehmann-Horn, F.
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<strong>Periodic paralysis mutation MiRP2-R83H in controls: interpretations and general recommendation.</strong>
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Neurology 62: 1012-1015, 2004.
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[PubMed: 15037716]
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[Full Text: https://doi.org/10.1212/01.wnl.0000119392.29624.88]
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<p class="mim-text-font">
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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.
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<strong>Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.</strong>
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Proc. Nat. Acad. Sci. 97: 9549-9554, 2000.
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[PubMed: 10944223]
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[Full Text: https://doi.org/10.1073/pnas.97.17.9549]
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</p>
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<p class="mim-text-font">
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Jurkatt-Rott, K., Lehmann-Horn, F.
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<strong>Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.</strong>
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Neurotherapeutics 4: 216-224, 2007.
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[PubMed: 17395131]
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[Full Text: https://doi.org/10.1016/j.nurt.2007.02.001]
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</p>
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<li>
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<p class="mim-text-font">
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Koch, M. C., Ricker, K., Otto, M., Grimm, T., Hoffman, E. P., Rudel, R., Bender, K., Zoll, B., Harper, P. S., Lehmann-Horn, F.
|
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<strong>Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17.</strong>
|
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J. Med. Genet. 28: 583-586, 1991.
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[PubMed: 1683408]
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[Full Text: https://doi.org/10.1136/jmg.28.9.583]
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</p>
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</li>
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