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Entry
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- #141500 - MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1
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- OMIM
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<p>
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<span class="h4">#141500</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/141500"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS141500"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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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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</li>
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</ul>
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</div>
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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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>
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<div id="mimExternalLinksFold" class="collapse in">
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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>
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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=MIGRAINE, FAMILIAL HEMIPLEGIC" 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=1031&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/NBK1388/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=141500[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=569" 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:0111181" 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/141500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111181" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:141500" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1260329005<br />
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<strong>ORPHA:</strong> 569<br />
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<strong>DO:</strong> 0111181<br />
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">ICD+</a>
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</div>
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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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141500
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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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MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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FHM<br />
|
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MHP1
|
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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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MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED
|
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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MIGRAINE, SPORADIC HEMIPLEGIC, 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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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/355?start=-3&limit=10&highlight=355">
|
|
19p13.13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Migraine, familial hemiplegic, 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/141500"> 141500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CACNA1A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601011"> 601011 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/355?start=-3&limit=10&highlight=355">
|
|
19p13.13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/141500"> 141500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CACNA1A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601011"> 601011 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/141500" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS141500" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/141500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/141500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hemianopic blurring of vision <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865332&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865332</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001125" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001125</a>]</span><br /> -
|
|
Nystagmus (may be permanent in 50% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Migraine <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37796009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37796009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G43.909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43.909</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G43.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/346" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">346</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/346.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">346.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149931</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002076</a>]</span><br /> -
|
|
Hemiparesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20022000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20022000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018989&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018989</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001269</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001269</a>]</span><br /> -
|
|
Hemiplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50582007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50582007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G81.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G81.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/342.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">342.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018991</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002301</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002301" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002301</a>]</span><br /> -
|
|
Dysphasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20301004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20301004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229746007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229746007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R47.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R47.02</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0973461&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0973461</a>, <a href="https://bioportal.bioontology.org/search?q=C0454651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0454651</a>]</span><br /> -
|
|
Drowsiness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271782001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271782001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/79519003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">79519003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013144&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013144</a>, <a href="https://bioportal.bioontology.org/search?q=C2830004&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2830004</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002329" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002329</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002329" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002329</a>]</span><br /> -
|
|
Confusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40917007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40917007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/286933003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">286933003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R41.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R41.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009676</a>, <a href="https://bioportal.bioontology.org/search?q=C0683369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0683369</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001289" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001289</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001289" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001289</a>]</span><br /> -
|
|
Coma (in up to 33% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/371632003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">371632003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405809000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405809000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R40.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R40.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543874</a>, <a href="https://bioportal.bioontology.org/search?q=C3146279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3146279</a>, <a href="https://bioportal.bioontology.org/search?q=C0009421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001259</a>]</span><br /> -
|
|
Tremor (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> -
|
|
Seizures (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Psychomotor agitation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47295007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47295007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887612&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887612</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000713</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000713</a>]</span><br /> -
|
|
Dyscalculia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55640002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55640002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47916000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47916000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F81.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F81.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0869474&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0869474</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002442</a>]</span><br /> -
|
|
Attention disturbances <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76039005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76039005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233414&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233414</a>]</span><br /> -
|
|
Impaired long-term verbal memory <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1841624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1841624</a>]</span><br /> -
|
|
Cerebellar signs (may be permanent in 50% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0742038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0742038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001317</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001317</a>]</span><br /> -
|
|
Cerebellar ataxia (may be permanent in 50% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
|
|
Cerebellar atrophy (especially in the superior cerebellar vermis) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1841627&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1841627</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span><br /> -
|
|
Brain edema following head injury (less common) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276826</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Behavioral Psychiatric Manifestations </em>
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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- Visual hallucinations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64269007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64269007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R44.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R44.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233763</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002367" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002367</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002367" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002367</a>]</span><br /> -
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Auditory hallucinations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45150006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45150006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R44.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R44.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233762&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233762</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008765</a>]</span><br /> -
|
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Anxiety attacks <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300895004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300895004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700031&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700031</a>]</span><br /> -
|
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Paranoid psychosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/191667009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">191667009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1456784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1456784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011999</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> METABOLIC FEATURES </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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|
|
- Fever <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386661006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386661006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50177009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50177009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015967&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015967</a>, <a href="https://bioportal.bioontology.org/search?q=C0424755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424755</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001945</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001945</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Subtype of migraine with aura<br /> -
|
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Onset 5-30 years<br /> -
|
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Symptoms usually last 30-60 minutes<br /> -
|
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Pulsatile headache lasts hours to days<br /> -
|
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In severe attacks, hemiplegia or coma may last days to weeks<br /> -
|
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Triggered by minor head trauma<br /> -
|
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Marked clinical variability within families<br /> -
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Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
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Allelic disorder to episodic ataxia-2 (EA2, <a href="/entry/108500">108500</a>) and spinocerebellar ataxia-6 (SCA6, <a href="/entry/183086">183086</a>)<br />
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</span>
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</div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the voltage-dependent P/Q type calcium channel alpha-1A subunit gene (CACNA1A, <a href="/entry/601011#0001">601011.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Migraine, familial hemiplegic
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- <a href="/phenotypicSeries/PS141500">PS141500</a>
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- 7 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1310?start=-3&limit=10&highlight=1310"> 1q23.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602481"> Migraine, familial hemiplegic, 2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602481"> 602481 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/182340"> ATP1A2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/182340"> 182340 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1310?start=-3&limit=10&highlight=1310"> 1q23.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602481"> Migraine, familial basilar </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/602481"> 602481 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/182340"> ATP1A2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/182340"> 182340 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1505?start=-3&limit=10&highlight=1505"> 1q31 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607516"> {Migraine, familial hemiplegic, 4} </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607516"> 607516 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607516"> MGR6 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607516"> 607516 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1505?start=-3&limit=10&highlight=1505"> 1q31 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607516"> {Migraine with or without aura, susceptibility to, 6} </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607516"> 607516 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/607516"> MGR6 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/607516"> 607516 </a>
|
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</span>
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</td>
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</tr>
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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/2/740?start=-3&limit=10&highlight=740"> 2q24.3 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/609634"> Migraine, familial hemiplegic, 3 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/609634"> 609634 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/182389"> SCN1A </a>
|
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
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<a href="/entry/182389"> 182389 </a>
|
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</span>
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</td>
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</tr>
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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/19/355?start=-3&limit=10&highlight=355"> 19p13.13 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<a href="/entry/141500"> Migraine, familial hemiplegic, 1 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/141500"> 141500 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601011"> CACNA1A </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601011"> 601011 </a>
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
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<a href="/geneMap/19/355?start=-3&limit=10&highlight=355"> 19p13.13 </a>
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|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/141500"> Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/141500"> 141500 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/601011"> CACNA1A </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/601011"> 601011 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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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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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because familial hemiplegic migraine-1 (FHM1) is caused by heterozygous mutation in the CACNA1A gene (<a href="/entry/601011">601011</a>) on chromosome 19p13.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Familial hemiplegic migraine-1 (FHM1) is an autosomal dominant form of migraine with aura. Typical attacks include a unilateral motor deficit associated with paresthesias, speech disturbances, or visual signs. These aura symptoms last from 10 minutes to a few hours and are followed by a migrainous headache. In some families, affected individuals have permanent cerebellar symptoms, such as nystagmus and slowly progressive mild to moderate statokinetic ataxia. In some cases, cerebral magnetic resonance imaging (MRI) reveals cerebellar atrophy (summary by <a href="#7" class="mim-tip-reference" title="Ducros, A., Denier, C., Joutel, A., Vahedi, K., Michel, A., Darcel, F., Madigand, M., Guerouaou, D., Tison, F., Julien, J., Hirsch, E., Chedru, F., Bisgard, C., Lucotte, G., Despres, P., Billard, C., Barthez, M. A., Ponsot, G., Bousser, M. G., Tournier-Lasserve, E. <strong>Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.</strong> Am. J. Hum. Genet. 64: 89-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9915947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9915947</a>] [<a href="https://doi.org/10.1086/302192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9915947">Ducros et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9915947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Familial Hemiplegic Migraine</em></strong></p><p>
|
|
See also FHM2 (<a href="/entry/602481">602481</a>), caused by mutation in the ATP1A2 gene (<a href="/entry/182340">182340</a>); FHM3 (<a href="/entry/609634">609634</a>), caused by mutation in the SCN1A gene (<a href="/entry/182389">182389</a>); and FHM4 (see <a href="/entry/607516">607516</a>), mapped to chromosome 1q31.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Familial hemiplegic migraine is a subtype of migraine with aura (see <a href="/entry/157300">157300</a>). FHM was first described by <a href="#3" class="mim-tip-reference" title="Clarke, J. M. <strong>On recurrent motor paralysis in migraine, with report of a family in which recurrent hemiplegia accompanied the attacks.</strong> Brit. Med. J. 1: 1534-1538, 1910.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20765161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20765161</a>] [<a href="https://doi.org/10.1136/bmj.1.2582.1534" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20765161">Clarke (1910)</a> in a family in which attacks of hemicranial pain and associated hemiparesis occurred in 4 generations. <a href="#22" class="mim-tip-reference" title="Rosenbaum, H. E. <strong>Familial hemiplegic migraine.</strong> Neurology 10: 164-170, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13854572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13854572</a>] [<a href="https://doi.org/10.1212/wnl.10.2.164" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13854572">Rosenbaum (1960)</a> described a family. Vasoconstriction, followed by focal edema, was thought to be responsible for the neurologic manifestations. Subsequent authors have reported additional associated features: persistent cerebellar dysfunction (<a href="#18" class="mim-tip-reference" title="Ohta, M., Araki, S., Kuroiwa, Y. <strong>Familial occurrence of migraine with a hemiplegic syndrome and cerebellar manifestations.</strong> Neurology 17: 813-817, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15088544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15088544</a>] [<a href="https://doi.org/10.1212/wnl.17.8.813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15088544">Ohta et al., 1967</a>); retinal degeneration, deafness, and nystagmus (<a href="#29" class="mim-tip-reference" title="Young, G. F., Leon-Barth, C. A., Green, J. <strong>Familial hemiplegic migraine, retinal degeneration, deafness, and nystagmus.</strong> Arch. Neurol. 23: 201-209, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5311627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5311627</a>] [<a href="https://doi.org/10.1001/archneur.1970.00480270011002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5311627">Young et al., 1970</a>); coma, fever, and meningismus (<a href="#17" class="mim-tip-reference" title="Munte, T. F., Muller-Vahl, H. <strong>Familial migraine coma: a case study.</strong> J. Neurol. 237: 59-61, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2319269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2319269</a>] [<a href="https://doi.org/10.1007/BF00319672" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2319269">Munte and Muller-Vahl, 1990</a>). The pattern of inheritance in these and other reported families was autosomal dominant. Also see <a href="#1" class="mim-tip-reference" title="Blau, J. N., Whitty, C. W. M. <strong>Familial hemiplegic migraine.</strong> Lancet 266: 1115-1116, 1955. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13272341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13272341</a>] [<a href="https://doi.org/10.1016/s0140-6736(55)92952-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13272341">Blau and Whitty (1955)</a> and <a href="#9" class="mim-tip-reference" title="Glista, G. G., Mellinger, J. F., Rooke, E. D. <strong>Familial hemiplegic migraine.</strong> Mayo Clin. Proc. 50: 307-311, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1127995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1127995</a>]" pmid="1127995">Glista et al. (1975)</a>. As <a href="#2" class="mim-tip-reference" title="Bradshaw, P., Parsons, M. <strong>Hemiplegic migraine, a clinical study.</strong> Quart. J. Med. 34: 65-85, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14252427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14252427</a>]" pmid="14252427">Bradshaw and Parsons (1965)</a> and <a href="#29" class="mim-tip-reference" title="Young, G. F., Leon-Barth, C. A., Green, J. <strong>Familial hemiplegic migraine, retinal degeneration, deafness, and nystagmus.</strong> Arch. Neurol. 23: 201-209, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5311627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5311627</a>] [<a href="https://doi.org/10.1001/archneur.1970.00480270011002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5311627">Young et al. (1970)</a> pointed out, hemiplegic and 'ordinary' migraine can occur in the same family, which suggests that they are basically the same entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5311627+14252427+2319269+1127995+15088544+13854572+13272341+20765161" 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="Joutel, A., Bousser, M.-G., Biousse, V., Labauge, P., Chabriat, H., Nibbio, A., Maciazek, J., Meyer, B., Bach, M.-A., Weissenbach, J., Lathrop, G. M., Tournier-Lasserve, E. <strong>A gene for familial hemiplegic migraine maps to chromosome 19.</strong> Nature Genet. 5: 40-45, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220421</a>] [<a href="https://doi.org/10.1038/ng0993-40" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220421">Joutel et al. (1993)</a> noted that familial hemiplegic migraine had been reported in approximately 40 families. The age of onset varies from 5 to 30 years with a predominance during youth. Minor head trauma and cerebral angiography are well established triggering factors. Attacks are characterized by the presence of hemiparesis or hemiplegia, either isolated or associated with other aura symptoms such as hemianopic blurring of vision, unilateral paresthesias or numbness, and dysphasia. These symptoms usually last 30 to 60 minutes and are followed by a severe pulsatile headache lasting a few hours or days. In severe attacks, hemiplegia is often associated with fever, drowsiness, confusion, or coma, which usually also resolve within a few hours, days, or sometimes weeks. <a href="#16" class="mim-tip-reference" title="Marchioni, E., Galimberti, C. A., Soragna, D., Ferrandi, D., Maurelli, M., Ratti, M. T., Bo, P., Montalbetti, L., Albergati, A., Savoldi, F. <strong>Familial hemiplegic migraine versus migraine with prolonged aura: an uncertain diagnosis in a family report.</strong> Neurology 45: 33-37, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7824130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7824130</a>] [<a href="https://doi.org/10.1212/wnl.45.1.33" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7824130">Marchioni et al. (1995)</a> reported an affected mother with 2 affected sons and 1 affected daughter with prolonged episodes of hemiplegia lasting from 3 to 120 hours. Interictal electroencephalography demonstrated theta abnormalities contralateral to the side of the hemiparesis. Three of these individuals demonstrated minor neuropsychiatric difficulties such as dyscalculia, attention disturbances, and impaired long-term verbal memory when tested 2 months after their most recent attack. <a href="#16" class="mim-tip-reference" title="Marchioni, E., Galimberti, C. A., Soragna, D., Ferrandi, D., Maurelli, M., Ratti, M. T., Bo, P., Montalbetti, L., Albergati, A., Savoldi, F. <strong>Familial hemiplegic migraine versus migraine with prolonged aura: an uncertain diagnosis in a family report.</strong> Neurology 45: 33-37, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7824130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7824130</a>] [<a href="https://doi.org/10.1212/wnl.45.1.33" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7824130">Marchioni et al. (1995)</a> pointed out the difficulty of distinguishing between the diagnostic criteria of hemiplegic migraine versus migraine with prolonged aura, as promulgated by the International Headache Society. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8220421+7824130" 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="#23" class="mim-tip-reference" title="Spranger, M., Spranger, S., Schwab, S., Benninger, C., Dichgans, M. <strong>Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis.</strong> Europ. Neurol. 41: 150-152, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10202246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10202246</a>] [<a href="https://doi.org/10.1159/000008039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10202246">Spranger et al. (1999)</a> reported a family with familial hemiplegic migraine and cerebellar ataxia with recurrent episodes of acute paranoid psychosis with anxiety and visual hallucinations associated with migraine attacks. The family consisted of 3 generations in which 3 members were affected with hemiplegic migraine associated with cerebellar ataxia and 2 additional members suffered only from cerebellar ataxia. In 2 patients, the migrainous headache was followed by an episode of paranoid psychosis within 24 hours. Both patients initially presented with acute panic attacks with anxiety, severe psychomotor agitation, and a perplexed facial expression. Retrospectively, the patients reported visual and auditory hallucinations. Based on the clinical and haplotype evidence indicating linkage to chromosome 19 in this family, they hypothesized that a dysfunction of the CACNL1A4 channel may be involved not only in the development of hemiplegic migraine but also in the acute psychotic episodes observed in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10202246" 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="#21" class="mim-tip-reference" title="Riant, F., Ducros, A., Ploton, C., Barbance, C., Depienne, C., Tournier-Lasserve, E. <strong>De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.</strong> Neurology 75: 967-972, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20837964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20837964</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181f25e8f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20837964">Riant et al. (2010)</a> identified putative pathogenic de novo mutations in the CACNA1A gene in 8 (32%) of 25 patients with onset of sporadic hemiplegic migraine before age 16 years. Only 1 patient had pure hemiplegic migraine. The 7 other patients had various associated neurologic features, including permanent cerebellar ataxia in 5, seizures in 4, and severe learning and motor delay in 4. Four patients had a particularly severe phenotype, with early presentation of hypotonia, ataxia, and delayed development, but only developing hemiplegic migraine episodes in later in childhood. All 4 of these patients later had mental retardation and marked ataxia. Three patients had episodes of unconsciousness or prolonged coma. Among the remaining patients with sporadic disease, 11 (44%) had de novo mutations in the ATP1A2 gene, resulting in an overall mutation frequency of 76% among patients with early-onset sporadic hemiplegic migraine. Overall, the phenotype was more severe in patients with CACNA1A mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20837964" 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="#5" class="mim-tip-reference" title="Dichgans, M., Herzog, J., Freilinger, T., Wilke, M., Auer, D. P. <strong>1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1.</strong> Neurology 64: 608-613, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15728280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15728280</a>] [<a href="https://doi.org/10.1212/01.WNL.0000151855.98318.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15728280">Dichgans et al. (2005)</a> used magnetic resonance spectroscopy to measure brain morphology and metabolism in 15 patients from 3 unrelated families with FHM1 confirmed by genetic analysis. Eleven patients had clinical signs of cerebellar involvement, and 8 reported permanent cerebellar dysfunction mainly in the form of gait ataxia. Compared to healthy controls, FHM1 patients had less gray matter, less white matter, and more CSF in the cerebellar region. Patients also had significantly decreased levels of N-acetylaspartate (NAA), increased myoinositol, and decreased glutamate in the superior cerebellar region compared to controls. Decreased NAA suggested neuronal impairment that exceeded macroscopic tissue loss. Increased myoinositol suggested glial cell proliferation. Although decreased glutamate was less specific, <a href="#5" class="mim-tip-reference" title="Dichgans, M., Herzog, J., Freilinger, T., Wilke, M., Auer, D. P. <strong>1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1.</strong> Neurology 64: 608-613, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15728280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15728280</a>] [<a href="https://doi.org/10.1212/01.WNL.0000151855.98318.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15728280">Dichgans et al. (2005)</a> suggested that it may reflect impaired glutamatergic neurotransmission. Both the amount of brain parenchyma and NAA levels correlated with severity of gait ataxia. No tissue changes or metabolite differences were seen in the parietal or visual cortex, indicating regionally distinct effects of the mutant CACNA1A channel. The findings supported pathologic involvement of the cerebellum in gait ataxia in FHM1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15728280" 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>Upon venous infusion of CGRP (<a href="/entry/114130">114130</a>), <a href="#10" class="mim-tip-reference" title="Hansen, J. M., Thomsen, L. L., Olesen, J., Ashina, M. <strong>Calcitonin gene-related peptide does not cause the familial hemiplegic migraine phenotype.</strong> Neurology 71: 841-847, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18779512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18779512</a>] [<a href="https://doi.org/10.1212/01.wnl.0000325482.64106.3f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18779512">Hansen et al. (2008)</a> found no difference in the incidence of reported migraines or migraine-like headaches between 10 controls and 9 patients with familial hemiplegic migraine (FHM1 or FHM2). CGRP did not induce aura in any individuals. The findings suggested that FHM patients do not show hypersensitivity to the CGRP pathway, as had been observed in patients with migraine without aura (MO), suggesting that the FHM and MO phenotypes have different pathophysiologic mechanisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18779512" 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>During the study of an autosomal dominant arteriopathy, CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; see <a href="/entry/125310">125310</a>), it was noted that some of the patients experienced recurrent attacks of severe headache, with various aura symptoms, including transient hemiplegia. This led <a href="#13" class="mim-tip-reference" title="Joutel, A., Bousser, M.-G., Biousse, V., Labauge, P., Chabriat, H., Nibbio, A., Maciazek, J., Meyer, B., Bach, M.-A., Weissenbach, J., Lathrop, G. M., Tournier-Lasserve, E. <strong>A gene for familial hemiplegic migraine maps to chromosome 19.</strong> Nature Genet. 5: 40-45, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220421</a>] [<a href="https://doi.org/10.1038/ng0993-40" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220421">Joutel et al. (1993)</a> to question whether that disorder and familial hemiplegic migraine, although clinically distinct, might be allelic. Using a set of DNA markers spanning the region containing the CADASIL locus on chromosome 19 (<a href="#27" class="mim-tip-reference" title="Tournier-Lasserve, E., Joutel, A., Melki, J., Weissenbach, J., Lathrop, G. M., Chabriat, H., Mas, J.-L., Cabanis, E.-A., Baudrimont, M., Maciazek, J., Bach, M.-A., Bousser, M.-G. <strong>Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12.</strong> Nature Genet. 3: 256-259, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8485581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8485581</a>] [<a href="https://doi.org/10.1038/ng0393-256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8485581">Tournier-Lasserve et al., 1993</a>), they performed linkage studies in 2 large kindreds with familial hemiplegic migraine, one with cerebellar signs (as described by <a href="#18" class="mim-tip-reference" title="Ohta, M., Araki, S., Kuroiwa, Y. <strong>Familial occurrence of migraine with a hemiplegic syndrome and cerebellar manifestations.</strong> Neurology 17: 813-817, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15088544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15088544</a>] [<a href="https://doi.org/10.1212/wnl.17.8.813" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15088544">Ohta et al., 1967</a> and <a href="#4" class="mim-tip-reference" title="Codina, A., Acarin, P. N., Miquel, F., Noguera, M. <strong>Migraine hemiplegique familiale associee a un nystagmus.</strong> Rev. Neurol. 124: 526-530, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5159359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5159359</a>]" pmid="5159359">Codina et al., 1971</a>) and a permanent deficit in some families, and the other without cerebellar signs. The FHM locus was shown by <a href="#13" class="mim-tip-reference" title="Joutel, A., Bousser, M.-G., Biousse, V., Labauge, P., Chabriat, H., Nibbio, A., Maciazek, J., Meyer, B., Bach, M.-A., Weissenbach, J., Lathrop, G. M., Tournier-Lasserve, E. <strong>A gene for familial hemiplegic migraine maps to chromosome 19.</strong> Nature Genet. 5: 40-45, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220421</a>] [<a href="https://doi.org/10.1038/ng0993-40" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220421">Joutel et al. (1993)</a> to be located in a 30-cM interval between D19S216 and D19S215, which encompasses the probable location of the CADASIL locus. In the family with cerebellar signs, affected members showed atrophy of the cerebellar vermis on magnetic resonance imaging. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5159359+8485581+8220421+15088544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Dichgans, M., Mayer, M., Muller-Myhsok, B., Straube, A., Gasser, T. <strong>Identification of a key recombinant narrows the CADASIL gene region to 8 cM and argues against allelism of CADASIL and familial hemiplegic migraine.</strong> Genomics 32: 151-154, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786108</a>] [<a href="https://doi.org/10.1006/geno.1996.0094" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786108">Dichgans et al. (1996)</a> identified a key recombinant that narrowed the location of the CADASIL gene and argued against allelism for CADASIL and FHM. That the 2 disorders have overlapping manifestations may reflect a novel gene family clustered on 19q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786108" 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="Ophoff, R. A., van Eijk, R., Sandkuijl, L. A., Terwindt, G. M., Grubben, C. P. M., Haan, J., Lindhout, D., Ferrari, M. D., Frants, R. R. <strong>Genetic heterogeneity of familial hemiplegic migraine.</strong> Genomics 22: 21-26, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959770</a>] [<a href="https://doi.org/10.1006/geno.1994.1340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959770">Ophoff et al. (1994)</a>, who interpreted the findings of <a href="#13" class="mim-tip-reference" title="Joutel, A., Bousser, M.-G., Biousse, V., Labauge, P., Chabriat, H., Nibbio, A., Maciazek, J., Meyer, B., Bach, M.-A., Weissenbach, J., Lathrop, G. M., Tournier-Lasserve, E. <strong>A gene for familial hemiplegic migraine maps to chromosome 19.</strong> Nature Genet. 5: 40-45, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220421</a>] [<a href="https://doi.org/10.1038/ng0993-40" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8220421">Joutel et al. (1993)</a> as indicating location of the FHM gene on 19p rather than 19q, confirmed localization to 19p13 in 3 of 5 families. Haplotyping suggested a location of the gene between the microsatellite markers D19S391 and D19S221. Of 7 additional FHM families reported by <a href="#14" class="mim-tip-reference" title="Joutel, A., Ducros, A., Vahedi, K., Labauge, P., Delrieu, O., Pinsard, N., Mancini, J., Ponsot, G., Gouttiere, F., Gastaut, J. L., Maziaceck, J., Weissenbach, J., Bousser, M. G., Tournier-Lasserve, E. <strong>Genetic heterogeneity of familial hemiplegic migraine.</strong> Am. J. Hum. Genet. 55: 1166-1172, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7977376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7977376</a>]" pmid="7977376">Joutel et al. (1994)</a>, 2 showed strong evidence of linkage to chromosome 19. The authors concluded that the FHM gene is probably located in a 12-cM interval between D19S413 and D19S226. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8220421+7977376+7959770" 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>Locus Heterogeneity</em></strong></p><p>
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In 2 of 5 families with FHM reported by <a href="#20" class="mim-tip-reference" title="Ophoff, R. A., van Eijk, R., Sandkuijl, L. A., Terwindt, G. M., Grubben, C. P. M., Haan, J., Lindhout, D., Ferrari, M. D., Frants, R. R. <strong>Genetic heterogeneity of familial hemiplegic migraine.</strong> Genomics 22: 21-26, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959770/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959770</a>] [<a href="https://doi.org/10.1006/geno.1994.1340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959770">Ophoff et al. (1994)</a>, evidence against linkage to chromosome 19p was found. The locus heterogeneity did not correspond to observed clinical heterogeneity, however. In 2 of the 5 pedigrees, additional symptoms were present: cerebellar ataxia in a chromosome 19-linked family and benign neonatal convulsions in an unlinked family. <a href="#14" class="mim-tip-reference" title="Joutel, A., Ducros, A., Vahedi, K., Labauge, P., Delrieu, O., Pinsard, N., Mancini, J., Ponsot, G., Gouttiere, F., Gastaut, J. L., Maziaceck, J., Weissenbach, J., Bousser, M. G., Tournier-Lasserve, E. <strong>Genetic heterogeneity of familial hemiplegic migraine.</strong> Am. J. Hum. Genet. 55: 1166-1172, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7977376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7977376</a>]" pmid="7977376">Joutel et al. (1994)</a> likewise found evidence of genetic heterogeneity in studies of 7 additional FHM families. In the 9 families tested by this group, 4 were linked to chromosome 19, including 2 with associated cerebellar ataxia, 4 were not linked, and no firm conclusion was possible in the last family. They could find no clinical difference between the pure FHM families regardless of whether or not they were linked. <a href="#26" class="mim-tip-reference" title="Terwindt, G. M., Ophoff, R. A., Haan, J., Frants, R. R., Ferrari, M. D. <strong>Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.</strong> Cephalalgia 16: 153-155, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8734765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8734765</a>] [<a href="https://doi.org/10.1046/j.1468-2982.1996.1603153.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8734765">Terwindt et al. (1996)</a> compared the clinical characteristics in 3 unrelated families linked to chromosome 19 with those in 2 families not linked to chromosome 19. Age of onset frequency and duration of attacks did not vary between the 2 groups whereas there was significantly more loss of consciousness during attacks and provocation of attacks by mild head trauma in the linked families. Chronic progressive cerebellar ataxia occurred in 1 linked family. Benign infantile convulsions occurred in 1 unlinked family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8734765+7977376+7959770" 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="Hovatta, I., Kallela, M., Farkkila, M., Peltonen, L. <strong>Familial migraine: exclusion of the susceptibility gene from the reported locus of familial hemiplegic migraine on 19p.</strong> Genomics 23: 707-709, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7851903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7851903</a>] [<a href="https://doi.org/10.1006/geno.1994.1563" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7851903">Hovatta et al. (1994)</a> reported linkage studies in 4 families with migraine with or without aura and excluded a region of 50 cM flanking the locus for FHM1 on chromosome 19. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7851903" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of FHM1 in the families reported by <a href="#19" class="mim-tip-reference" title="Ophoff, R. A., Terwindt, G. M., Vergouwe, M. N., van Eijk, R., Oefner, P. J., Hoffman, S. M. G., Lamerdin, J. E., Mohrenweiser, H. W., Bulman, D. E., Ferrari, M., Haan, J., Lindhout, D., van Ommen, G.-J. B., Hofker, M. H., Ferrari, M. D., Frants, R. R. <strong>Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca(2+) channel gene CACNL1A4.</strong> Cell 87: 543-552, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8898206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8898206</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81373-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8898206">Ophoff et al. (1996)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8898206" 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="#19" class="mim-tip-reference" title="Ophoff, R. A., Terwindt, G. M., Vergouwe, M. N., van Eijk, R., Oefner, P. J., Hoffman, S. M. G., Lamerdin, J. E., Mohrenweiser, H. W., Bulman, D. E., Ferrari, M., Haan, J., Lindhout, D., van Ommen, G.-J. B., Hofker, M. H., Ferrari, M. D., Frants, R. R. <strong>Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca(2+) channel gene CACNL1A4.</strong> Cell 87: 543-552, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8898206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8898206</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81373-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8898206">Ophoff et al. (1996)</a> demonstrated 4 heterozygous missense mutations in conserved functional domains of the CACNL1A4 gene (<a href="/entry/601011#0001">601011.0001</a>-<a href="/entry/601011#0004">601011.0004</a>) in 5 unrelated families with familial hemiplegic migraine. <a href="#7" class="mim-tip-reference" title="Ducros, A., Denier, C., Joutel, A., Vahedi, K., Michel, A., Darcel, F., Madigand, M., Guerouaou, D., Tison, F., Julien, J., Hirsch, E., Chedru, F., Bisgard, C., Lucotte, G., Despres, P., Billard, C., Barthez, M. A., Ponsot, G., Bousser, M. G., Tournier-Lasserve, E. <strong>Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.</strong> Am. J. Hum. Genet. 64: 89-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9915947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9915947</a>] [<a href="https://doi.org/10.1086/302192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9915947">Ducros et al. (1999)</a> screened 16 families and 3 nonfamilial cases with hemiplegic migraine associated with progressive cerebellar ataxia and found heterozygosity for the T666M mutation in the CACNA1A gene (<a href="/entry/601011#0002">601011.0002</a>) in 9 families and 1 nonfamilial case. The T666M mutation was absent in 12 probands belonging to pure FHM families whose disease appeared to be linked to CACNA1A. In 2 of 27 patients with sporadic hemiplegic migraine, <a href="#25" class="mim-tip-reference" title="Terwindt, G., Kors, E., Haan, J., Vermeulen, F., van den Maagdenberg, A., Frants, R., Ferrari, M. <strong>Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine.</strong> Arch. Neurol. 59: 1016-1018, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12056940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12056940</a>] [<a href="https://doi.org/10.1001/archneur.59.6.1016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12056940">Terwindt et al. (2002)</a> identified 2 mutations in the CACNA1A gene: T666M and arg583 to gln (R583Q; <a href="/entry/601011#0018">601011.0018</a>). Both mutations had previously been found in patients with FHM and progressive cerebellar ataxia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12056940+8898206+9915947" 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 retrospective Finnish study, <a href="#15" class="mim-tip-reference" title="Majamaa, K., Finnila, S., Turkka, J., Hassinen, I. E. <strong>Mitochondrial DNA haplogroup U as a risk factor for occipital stroke in migraine.</strong> Lancet 352: 455-456, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9708761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9708761</a>] [<a href="https://doi.org/10.1016/S0140-6736(05)79190-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9708761">Majamaa et al. (1998)</a> found mitochondrial DNA haplogroup U to be a significant risk factor for occipital strokes associated with migraine, although not with migraine itself. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9708761" 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="#28" class="mim-tip-reference" title="van den Maagdenberg, A. M. J. M., Pietrobon, D., Pizzorusso, T., Kaja, S., Broos, L. A. M., Cesetti, T., van de Ven, R. C. G., Tottene, A., van der Kaa, J., Plomp, J. J., Frants, R. R., Ferrari, M. D. <strong>A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.</strong> Neuron 41: 701-710, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15003170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15003170</a>] [<a href="https://doi.org/10.1016/s0896-6273(04)00085-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15003170">Van den Maagdenberg et al. (2004)</a> generated a transgenic mouse model carrying the human CACNA1A mutation R192Q (<a href="/entry/601011#0001">601011.0001</a>). Cultured cerebellar granule cells from R192Q mice showed increased Ca(v)2.1 channel current densities, which were activated at more negative voltages than wildtype channels. Neuromuscular synapses with the mutant CACNA1A channels had increased induced neurotransmission and increased spontaneous miniature endplate potential frequency at low Ca(2+) levels compared to controls, consistent with a gain of function. In addition, the intact transgenic animal showed increased susceptibility to cortical spreading depression, the likely mechanism for migraine aura. <a href="#28" class="mim-tip-reference" title="van den Maagdenberg, A. M. J. M., Pietrobon, D., Pizzorusso, T., Kaja, S., Broos, L. A. M., Cesetti, T., van de Ven, R. C. G., Tottene, A., van der Kaa, J., Plomp, J. J., Frants, R. R., Ferrari, M. D. <strong>A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.</strong> Neuron 41: 701-710, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15003170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15003170</a>] [<a href="https://doi.org/10.1016/s0896-6273(04)00085-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15003170">Van den Maagdenberg et al. (2004)</a> concluded that the underlying mechanism in FHM is cortical hyperexcitability due to excessive release of excitatory amino acids in response to increased Ca(2+) influx through a defective Ca(v)2.1 channel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15003170" 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="#8" class="mim-tip-reference" title="Eikermann-Haerter, K., Dilekoz, E., Kudo, C., Savitz, S. I., Waeber, C., Baum, M. J., Ferrari, M. D., van den Maagdenberg, A. M. J. M., Moskowitz, M. A., Ayata, C. <strong>Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1.</strong> J. Clin. Invest. 119: 99-109, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19104150/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19104150</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19104150[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/JCI36059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19104150">Eikermann-Haerter et al. (2009)</a> found that transgenic mice expressing the R192Q or S218L (<a href="/entry/601011#0017">601011.0017</a>) CACNA1A mutations had increased frequency and speed of spreading depression and enhanced corticostriatal propagation compared to wildtype mice after induction. Mutant mice also developed severe and prolonged neurologic deficits. The susceptibility to spreading depression and neurologic deficits was affected by allele dosage and was higher in S218L than R192Q mutants, similar to observations in humans. Female mutant mice were more susceptible to spreading depression and neurologic deficits than males, and this sex difference was abrogated by ovariectomy or senescence and partially restored by estrogen replacement. The findings implicating ovarian hormones in the observed sex differences in humans with FHM1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19104150" 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="#Headache1988">Headache Classification Committee of the International Headache
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Society (1988)</a>; <a href="#Stewart1992" class="mim-tip-reference" title="Stewart, W. F., Lipton, R. B., Celentano, D. D., Reed, M. L. <strong>Prevalence of migraine headache in the United States: relation to age, income, race, and other sociodemographic factors.</strong> JAMA 267: 64-69, 1992.">Stewart et al. (1992)</a>
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[<a href="https://doi.org/10.1136/bmj.1.2582.1534" target="_blank">Full Text</a>]
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Dichgans, M., Herzog, J., Freilinger, T., Wilke, M., Auer, D. P.
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<strong>1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1.</strong>
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Neurology 64: 608-613, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15728280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15728280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15728280" 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.0000151855.98318.50" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786108</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786108" 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/10.1006/geno.1996.0094" target="_blank">Full Text</a>]
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Ducros, A., Denier, C., Joutel, A., Vahedi, K., Michel, A., Darcel, F., Madigand, M., Guerouaou, D., Tison, F., Julien, J., Hirsch, E., Chedru, F., Bisgard, C., Lucotte, G., Despres, P., Billard, C., Barthez, M. A., Ponsot, G., Bousser, M. G., Tournier-Lasserve, E.
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<strong>Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9915947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9915947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9915947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/302192" target="_blank">Full Text</a>]
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<a id="Eikermann-Haerter2009" class="mim-anchor"></a>
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Eikermann-Haerter, K., Dilekoz, E., Kudo, C., Savitz, S. I., Waeber, C., Baum, M. J., Ferrari, M. D., van den Maagdenberg, A. M. J. M., Moskowitz, M. A., Ayata, C.
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<strong>Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1.</strong>
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J. Clin. Invest. 119: 99-109, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19104150/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19104150</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19104150[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19104150" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI36059" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18779512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18779512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18779512" 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.0000325482.64106.3f" target="_blank">Full Text</a>]
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<a id="{Headache Classification Committee of the International Headache Society}1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Headache Classification Committee of the International Headache Society.
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<strong>Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain.</strong>
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Cephalalgia 8: 19-28, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3048700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3048700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3048700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hovatta, I., Kallela, M., Farkkila, M., Peltonen, L.
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<strong>Familial migraine: exclusion of the susceptibility gene from the reported locus of familial hemiplegic migraine on 19p.</strong>
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Genomics 23: 707-709, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7851903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7851903</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7851903" 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/10.1006/geno.1994.1563" target="_blank">Full Text</a>]
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Joutel, A., Bousser, M.-G., Biousse, V., Labauge, P., Chabriat, H., Nibbio, A., Maciazek, J., Meyer, B., Bach, M.-A., Weissenbach, J., Lathrop, G. M., Tournier-Lasserve, E.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8220421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8220421</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8220421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0993-40" target="_blank">Full Text</a>]
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Joutel, A., Ducros, A., Vahedi, K., Labauge, P., Delrieu, O., Pinsard, N., Mancini, J., Ponsot, G., Gouttiere, F., Gastaut, J. L., Maziaceck, J., Weissenbach, J., Bousser, M. G., Tournier-Lasserve, E.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7977376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7977376</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7977376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Mitochondrial DNA haplogroup U as a risk factor for occipital stroke in migraine.</strong>
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[<a href="https://doi.org/10.1016/S0140-6736(05)79190-X" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.45.1.33" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00319672" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.17.8.813" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0092-8674(00)81373-2" target="_blank">Full Text</a>]
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Ophoff, R. A., van Eijk, R., Sandkuijl, L. A., Terwindt, G. M., Grubben, C. P. M., Haan, J., Lindhout, D., Ferrari, M. D., Frants, R. R.
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[<a href="https://doi.org/10.1006/geno.1994.1340" target="_blank">Full Text</a>]
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<strong>De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20837964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20837964</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20837964" 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.0b013e3181f25e8f" target="_blank">Full Text</a>]
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<strong>Familial hemiplegic migraine.</strong>
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[<a href="https://doi.org/10.1212/wnl.10.2.164" target="_blank">Full Text</a>]
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<a id="Spranger1999" class="mim-anchor"></a>
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Spranger, M., Spranger, S., Schwab, S., Benninger, C., Dichgans, M.
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<strong>Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10202246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10202246</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10202246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000008039" target="_blank">Full Text</a>]
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<a id="Stewart1992" class="mim-anchor"></a>
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Stewart, W. F., Lipton, R. B., Celentano, D. D., Reed, M. L.
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<strong>Prevalence of migraine headache in the United States: relation to age, income, race, and other sociodemographic factors.</strong>
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JAMA 267: 64-69, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1727198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1727198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1727198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Terwindt2002" class="mim-anchor"></a>
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Terwindt, G., Kors, E., Haan, J., Vermeulen, F., van den Maagdenberg, A., Frants, R., Ferrari, M.
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<strong>Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12056940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12056940</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12056940" 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.59.6.1016" target="_blank">Full Text</a>]
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<a id="Terwindt1996" class="mim-anchor"></a>
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Terwindt, G. M., Ophoff, R. A., Haan, J., Frants, R. R., Ferrari, M. D.
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<strong>Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8734765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8734765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8734765" 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/10.1046/j.1468-2982.1996.1603153.x" target="_blank">Full Text</a>]
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<a id="Tournier-Lasserve1993" class="mim-anchor"></a>
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Tournier-Lasserve, E., Joutel, A., Melki, J., Weissenbach, J., Lathrop, G. M., Chabriat, H., Mas, J.-L., Cabanis, E.-A., Baudrimont, M., Maciazek, J., Bach, M.-A., Bousser, M.-G.
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<strong>Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8485581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8485581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8485581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0393-256" target="_blank">Full Text</a>]
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<a id="van den Maagdenberg2004" class="mim-anchor"></a>
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van den Maagdenberg, A. M. J. M., Pietrobon, D., Pizzorusso, T., Kaja, S., Broos, L. A. M., Cesetti, T., van de Ven, R. C. G., Tottene, A., van der Kaa, J., Plomp, J. J., Frants, R. R., Ferrari, M. D.
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<strong>A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15003170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15003170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15003170" 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/s0896-6273(04)00085-6" target="_blank">Full Text</a>]
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<a id="29" class="mim-anchor"></a>
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<a id="Young1970" class="mim-anchor"></a>
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Young, G. F., Leon-Barth, C. A., Green, J.
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<strong>Familial hemiplegic migraine, retinal degeneration, deafness, and nystagmus.</strong>
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Arch. Neurol. 23: 201-209, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5311627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5311627</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5311627" 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.1970.00480270011002" target="_blank">Full Text</a>]
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Anne M. Stumpf - updated : 03/09/2020
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/22/2010<br>Cassandra L. Kniffin - updated : 6/24/2009<br>Cassandra L. Kniffin - updated : 3/24/2009<br>Cassandra L. Kniffin - updated : 6/10/2005<br>Cassandra L. Kniffin - reorganized : 1/30/2003<br>Cassandra L. Kniffin - updated : 10/2/2002<br>Victor A. McKusick - updated : 8/5/1999<br>Orest Hurko - updated : 11/5/1996<br>Orest Hurko - updated : 2/22/1996
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 09/28/2023
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carol : 05/30/2023<br>alopez : 03/09/2020<br>carol : 10/30/2017<br>carol : 05/17/2016<br>wwang : 11/1/2010<br>ckniffin : 10/22/2010<br>wwang : 7/22/2009<br>ckniffin : 6/24/2009<br>terry : 6/3/2009<br>wwang : 3/31/2009<br>ckniffin : 3/24/2009<br>terry : 1/14/2009<br>wwang : 11/14/2005<br>ckniffin : 11/3/2005<br>wwang : 11/2/2005<br>wwang : 6/21/2005<br>wwang : 6/15/2005<br>ckniffin : 6/10/2005<br>ckniffin : 2/3/2003<br>carol : 2/3/2003<br>carol : 1/30/2003<br>ckniffin : 1/27/2003<br>carol : 11/1/2002<br>tkritzer : 10/28/2002<br>ckniffin : 10/2/2002<br>alopez : 10/3/2000<br>jlewis : 8/26/1999<br>terry : 8/5/1999<br>carol : 2/18/1999<br>dkim : 7/24/1998<br>alopez : 3/27/1998<br>terry : 11/18/1996<br>terry : 11/15/1996<br>mark : 11/5/1996<br>terry : 10/23/1996<br>terry : 4/15/1996<br>mark : 3/13/1996<br>terry : 3/7/1996<br>mark : 2/22/1996<br>terry : 2/12/1996<br>O. : 9/27/1995<br>carol : 2/6/1995<br>mimadm : 9/24/1994<br>jason : 7/18/1994<br>pfoster : 2/18/1994<br>carol : 11/16/1993
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<span class="mim-font">
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<strong>#</strong> 141500
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<h3>
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MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1
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<em>Alternative titles; symbols</em>
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FHM<br />
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MHP1
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<span class="mim-font">
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Other entities represented in this entry:
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<span class="h3 mim-font">
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MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, INCLUDED
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MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED
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<strong>SNOMEDCT:</strong> 1260329005;
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<strong>ORPHA:</strong> 569;
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<strong>DO:</strong> 0111181;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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19p13.13
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Migraine, familial hemiplegic, 1
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141500
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Autosomal dominant
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<span class="mim-font">
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3
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CACNA1A
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<span class="mim-font">
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601011
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19p13.13
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<span class="mim-font">
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Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
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<span class="mim-font">
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141500
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Autosomal dominant
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3
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CACNA1A
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601011
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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 familial hemiplegic migraine-1 (FHM1) is caused by heterozygous mutation in the CACNA1A gene (601011) on chromosome 19p13.</p>
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<strong>Description</strong>
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<p>Familial hemiplegic migraine-1 (FHM1) is an autosomal dominant form of migraine with aura. Typical attacks include a unilateral motor deficit associated with paresthesias, speech disturbances, or visual signs. These aura symptoms last from 10 minutes to a few hours and are followed by a migrainous headache. In some families, affected individuals have permanent cerebellar symptoms, such as nystagmus and slowly progressive mild to moderate statokinetic ataxia. In some cases, cerebral magnetic resonance imaging (MRI) reveals cerebellar atrophy (summary by Ducros et al., 1999). </p><p><strong><em>Genetic Heterogeneity of Familial Hemiplegic Migraine</em></strong></p><p>
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See also FHM2 (602481), caused by mutation in the ATP1A2 gene (182340); FHM3 (609634), caused by mutation in the SCN1A gene (182389); and FHM4 (see 607516), mapped to chromosome 1q31.</p>
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<strong>Clinical Features</strong>
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<p>Familial hemiplegic migraine is a subtype of migraine with aura (see 157300). FHM was first described by Clarke (1910) in a family in which attacks of hemicranial pain and associated hemiparesis occurred in 4 generations. Rosenbaum (1960) described a family. Vasoconstriction, followed by focal edema, was thought to be responsible for the neurologic manifestations. Subsequent authors have reported additional associated features: persistent cerebellar dysfunction (Ohta et al., 1967); retinal degeneration, deafness, and nystagmus (Young et al., 1970); coma, fever, and meningismus (Munte and Muller-Vahl, 1990). The pattern of inheritance in these and other reported families was autosomal dominant. Also see Blau and Whitty (1955) and Glista et al. (1975). As Bradshaw and Parsons (1965) and Young et al. (1970) pointed out, hemiplegic and 'ordinary' migraine can occur in the same family, which suggests that they are basically the same entity. </p><p>Joutel et al. (1993) noted that familial hemiplegic migraine had been reported in approximately 40 families. The age of onset varies from 5 to 30 years with a predominance during youth. Minor head trauma and cerebral angiography are well established triggering factors. Attacks are characterized by the presence of hemiparesis or hemiplegia, either isolated or associated with other aura symptoms such as hemianopic blurring of vision, unilateral paresthesias or numbness, and dysphasia. These symptoms usually last 30 to 60 minutes and are followed by a severe pulsatile headache lasting a few hours or days. In severe attacks, hemiplegia is often associated with fever, drowsiness, confusion, or coma, which usually also resolve within a few hours, days, or sometimes weeks. Marchioni et al. (1995) reported an affected mother with 2 affected sons and 1 affected daughter with prolonged episodes of hemiplegia lasting from 3 to 120 hours. Interictal electroencephalography demonstrated theta abnormalities contralateral to the side of the hemiparesis. Three of these individuals demonstrated minor neuropsychiatric difficulties such as dyscalculia, attention disturbances, and impaired long-term verbal memory when tested 2 months after their most recent attack. Marchioni et al. (1995) pointed out the difficulty of distinguishing between the diagnostic criteria of hemiplegic migraine versus migraine with prolonged aura, as promulgated by the International Headache Society. </p><p>Spranger et al. (1999) reported a family with familial hemiplegic migraine and cerebellar ataxia with recurrent episodes of acute paranoid psychosis with anxiety and visual hallucinations associated with migraine attacks. The family consisted of 3 generations in which 3 members were affected with hemiplegic migraine associated with cerebellar ataxia and 2 additional members suffered only from cerebellar ataxia. In 2 patients, the migrainous headache was followed by an episode of paranoid psychosis within 24 hours. Both patients initially presented with acute panic attacks with anxiety, severe psychomotor agitation, and a perplexed facial expression. Retrospectively, the patients reported visual and auditory hallucinations. Based on the clinical and haplotype evidence indicating linkage to chromosome 19 in this family, they hypothesized that a dysfunction of the CACNL1A4 channel may be involved not only in the development of hemiplegic migraine but also in the acute psychotic episodes observed in these patients. </p><p>Riant et al. (2010) identified putative pathogenic de novo mutations in the CACNA1A gene in 8 (32%) of 25 patients with onset of sporadic hemiplegic migraine before age 16 years. Only 1 patient had pure hemiplegic migraine. The 7 other patients had various associated neurologic features, including permanent cerebellar ataxia in 5, seizures in 4, and severe learning and motor delay in 4. Four patients had a particularly severe phenotype, with early presentation of hypotonia, ataxia, and delayed development, but only developing hemiplegic migraine episodes in later in childhood. All 4 of these patients later had mental retardation and marked ataxia. Three patients had episodes of unconsciousness or prolonged coma. Among the remaining patients with sporadic disease, 11 (44%) had de novo mutations in the ATP1A2 gene, resulting in an overall mutation frequency of 76% among patients with early-onset sporadic hemiplegic migraine. Overall, the phenotype was more severe in patients with CACNA1A mutations. </p>
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<h4>
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<strong>Other Features</strong>
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<p>Dichgans et al. (2005) used magnetic resonance spectroscopy to measure brain morphology and metabolism in 15 patients from 3 unrelated families with FHM1 confirmed by genetic analysis. Eleven patients had clinical signs of cerebellar involvement, and 8 reported permanent cerebellar dysfunction mainly in the form of gait ataxia. Compared to healthy controls, FHM1 patients had less gray matter, less white matter, and more CSF in the cerebellar region. Patients also had significantly decreased levels of N-acetylaspartate (NAA), increased myoinositol, and decreased glutamate in the superior cerebellar region compared to controls. Decreased NAA suggested neuronal impairment that exceeded macroscopic tissue loss. Increased myoinositol suggested glial cell proliferation. Although decreased glutamate was less specific, Dichgans et al. (2005) suggested that it may reflect impaired glutamatergic neurotransmission. Both the amount of brain parenchyma and NAA levels correlated with severity of gait ataxia. No tissue changes or metabolite differences were seen in the parietal or visual cortex, indicating regionally distinct effects of the mutant CACNA1A channel. The findings supported pathologic involvement of the cerebellum in gait ataxia in FHM1. </p>
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<h4>
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<strong>Pathogenesis</strong>
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<span class="mim-text-font">
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<p>Upon venous infusion of CGRP (114130), Hansen et al. (2008) found no difference in the incidence of reported migraines or migraine-like headaches between 10 controls and 9 patients with familial hemiplegic migraine (FHM1 or FHM2). CGRP did not induce aura in any individuals. The findings suggested that FHM patients do not show hypersensitivity to the CGRP pathway, as had been observed in patients with migraine without aura (MO), suggesting that the FHM and MO phenotypes have different pathophysiologic mechanisms. </p>
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<strong>Mapping</strong>
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<p>During the study of an autosomal dominant arteriopathy, CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; see 125310), it was noted that some of the patients experienced recurrent attacks of severe headache, with various aura symptoms, including transient hemiplegia. This led Joutel et al. (1993) to question whether that disorder and familial hemiplegic migraine, although clinically distinct, might be allelic. Using a set of DNA markers spanning the region containing the CADASIL locus on chromosome 19 (Tournier-Lasserve et al., 1993), they performed linkage studies in 2 large kindreds with familial hemiplegic migraine, one with cerebellar signs (as described by Ohta et al., 1967 and Codina et al., 1971) and a permanent deficit in some families, and the other without cerebellar signs. The FHM locus was shown by Joutel et al. (1993) to be located in a 30-cM interval between D19S216 and D19S215, which encompasses the probable location of the CADASIL locus. In the family with cerebellar signs, affected members showed atrophy of the cerebellar vermis on magnetic resonance imaging. </p><p>Dichgans et al. (1996) identified a key recombinant that narrowed the location of the CADASIL gene and argued against allelism for CADASIL and FHM. That the 2 disorders have overlapping manifestations may reflect a novel gene family clustered on 19q. </p><p>Ophoff et al. (1994), who interpreted the findings of Joutel et al. (1993) as indicating location of the FHM gene on 19p rather than 19q, confirmed localization to 19p13 in 3 of 5 families. Haplotyping suggested a location of the gene between the microsatellite markers D19S391 and D19S221. Of 7 additional FHM families reported by Joutel et al. (1994), 2 showed strong evidence of linkage to chromosome 19. The authors concluded that the FHM gene is probably located in a 12-cM interval between D19S413 and D19S226. </p><p><strong><em>Locus Heterogeneity</em></strong></p><p>
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In 2 of 5 families with FHM reported by Ophoff et al. (1994), evidence against linkage to chromosome 19p was found. The locus heterogeneity did not correspond to observed clinical heterogeneity, however. In 2 of the 5 pedigrees, additional symptoms were present: cerebellar ataxia in a chromosome 19-linked family and benign neonatal convulsions in an unlinked family. Joutel et al. (1994) likewise found evidence of genetic heterogeneity in studies of 7 additional FHM families. In the 9 families tested by this group, 4 were linked to chromosome 19, including 2 with associated cerebellar ataxia, 4 were not linked, and no firm conclusion was possible in the last family. They could find no clinical difference between the pure FHM families regardless of whether or not they were linked. Terwindt et al. (1996) compared the clinical characteristics in 3 unrelated families linked to chromosome 19 with those in 2 families not linked to chromosome 19. Age of onset frequency and duration of attacks did not vary between the 2 groups whereas there was significantly more loss of consciousness during attacks and provocation of attacks by mild head trauma in the linked families. Chronic progressive cerebellar ataxia occurred in 1 linked family. Benign infantile convulsions occurred in 1 unlinked family. </p><p>Hovatta et al. (1994) reported linkage studies in 4 families with migraine with or without aura and excluded a region of 50 cM flanking the locus for FHM1 on chromosome 19. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of FHM1 in the families reported by Ophoff et al. (1996) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Ophoff et al. (1996) demonstrated 4 heterozygous missense mutations in conserved functional domains of the CACNL1A4 gene (601011.0001-601011.0004) in 5 unrelated families with familial hemiplegic migraine. Ducros et al. (1999) screened 16 families and 3 nonfamilial cases with hemiplegic migraine associated with progressive cerebellar ataxia and found heterozygosity for the T666M mutation in the CACNA1A gene (601011.0002) in 9 families and 1 nonfamilial case. The T666M mutation was absent in 12 probands belonging to pure FHM families whose disease appeared to be linked to CACNA1A. In 2 of 27 patients with sporadic hemiplegic migraine, Terwindt et al. (2002) identified 2 mutations in the CACNA1A gene: T666M and arg583 to gln (R583Q; 601011.0018). Both mutations had previously been found in patients with FHM and progressive cerebellar ataxia. </p><p>In a retrospective Finnish study, Majamaa et al. (1998) found mitochondrial DNA haplogroup U to be a significant risk factor for occipital strokes associated with migraine, although not with migraine itself. </p>
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<span class="mim-text-font">
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<p>Van den Maagdenberg et al. (2004) generated a transgenic mouse model carrying the human CACNA1A mutation R192Q (601011.0001). Cultured cerebellar granule cells from R192Q mice showed increased Ca(v)2.1 channel current densities, which were activated at more negative voltages than wildtype channels. Neuromuscular synapses with the mutant CACNA1A channels had increased induced neurotransmission and increased spontaneous miniature endplate potential frequency at low Ca(2+) levels compared to controls, consistent with a gain of function. In addition, the intact transgenic animal showed increased susceptibility to cortical spreading depression, the likely mechanism for migraine aura. Van den Maagdenberg et al. (2004) concluded that the underlying mechanism in FHM is cortical hyperexcitability due to excessive release of excitatory amino acids in response to increased Ca(2+) influx through a defective Ca(v)2.1 channel. </p><p>Eikermann-Haerter et al. (2009) found that transgenic mice expressing the R192Q or S218L (601011.0017) CACNA1A mutations had increased frequency and speed of spreading depression and enhanced corticostriatal propagation compared to wildtype mice after induction. Mutant mice also developed severe and prolonged neurologic deficits. The susceptibility to spreading depression and neurologic deficits was affected by allele dosage and was higher in S218L than R192Q mutants, similar to observations in humans. Female mutant mice were more susceptible to spreading depression and neurologic deficits than males, and this sex difference was abrogated by ovariectomy or senescence and partially restored by estrogen replacement. The findings implicating ovarian hormones in the observed sex differences in humans with FHM1. </p>
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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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Headache Classification Committee of the International Headache
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Society (1988); Stewart et al. (1992)
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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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<span class="text-nowrap mim-text-font">
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Contributors:
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Anne M. Stumpf - updated : 03/09/2020<br>Cassandra L. Kniffin - updated : 10/22/2010<br>Cassandra L. Kniffin - updated : 6/24/2009<br>Cassandra L. Kniffin - updated : 3/24/2009<br>Cassandra L. Kniffin - updated : 6/10/2005<br>Cassandra L. Kniffin - reorganized : 1/30/2003<br>Cassandra L. Kniffin - updated : 10/2/2002<br>Victor A. McKusick - updated : 8/5/1999<br>Orest Hurko - updated : 11/5/1996<br>Orest Hurko - updated : 2/22/1996
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Victor A. McKusick : 6/4/1986
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