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Entry
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- #609634 - MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3
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- OMIM
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<p>
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<span class="h4">#609634</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/609634"><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="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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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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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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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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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=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.diseaseinfosearch.org/x/8380" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/familial-hemiplegic-migraine" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609634[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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<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:0111183" 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/609634" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 569<br />
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<strong>DO:</strong> 0111183<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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609634
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3
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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="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</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/2/740?start=-3&limit=10&highlight=740">
|
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2q24.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Migraine, familial hemiplegic, 3
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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</td>
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<td>
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<span class="mim-font">
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SCN1A
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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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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/609634" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS141500" class="btn btn-info" role="button"> Phenotypic Series </a>
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|
<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/609634" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/609634" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </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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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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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> HEAD & NECK </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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<div>
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<span class="h5 mim-font">
|
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<em> Eyes </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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|
|
- Photophobia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br /> -
|
|
Elicited repetitive daily blindness (ERDB) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750380</a>]</span><br /> -
|
|
Transient blindness (elicited by light, sudden standing, or direct pressure on the eyelid) lasting 3 to 10 seconds <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750381&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750381</a>]</span><br /> -
|
|
Absent pupillary reflexes during blindness episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750382&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750382</a>]</span><br /> -
|
|
Normal retinal and pupillary reflexes between episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750383</a>]</span><br />
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|
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</span>
|
|
</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">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<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 /> -
|
|
Migraine with aura <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4473006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4473006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G43.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G43.109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G43.109</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/346.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">346.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0154723&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0154723</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002077</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002077</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 /> -
|
|
Seizure (in a subset of patients in infancy) <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 />
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|
|
|
</span>
|
|
</div>
|
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</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in first 2 decades (range 6 to 15 years)<br /> -
|
|
Variable frequency and duration of episodes<br /> -
|
|
Blindness episodes are not associated with FHM episodes<br /> -
|
|
Genetic heterogeneity, see FHM1 <a href="/entry/141500">141500</a><br /> -
|
|
Allelic disorder to generalized epilepsy with seizures-plus (GEFS+, <a href="/entry/604233">604233</a>)<br />
|
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|
|
</span>
|
|
</div>
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|
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in subunit A of the neuronal voltage-gated sodium channel gene (SCN1A, <a href="/entry/182389#0012">182389.0012</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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</div>
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</div>
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|
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
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|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Migraine, familial hemiplegic
|
|
- <a href="/phenotypicSeries/PS141500">PS141500</a>
|
|
- 7 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<a href="/geneMap/1/1310?start=-3&limit=10&highlight=1310"> 1q23.2 </a>
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<a href="/entry/602481"> Migraine, familial hemiplegic, 2 </a>
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<a href="/entry/182340"> ATP1A2 </a>
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<span class="mim-font">
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<a href="/entry/602481"> Migraine, familial basilar </a>
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<a href="/entry/182340"> ATP1A2 </a>
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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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<a href="/entry/607516"> MGR6 </a>
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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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<a href="/entry/607516"> 607516 </a>
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<a href="/entry/609634"> Migraine, familial hemiplegic, 3 </a>
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<a href="/entry/609634"> 609634 </a>
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<a href="/entry/141500"> Migraine, familial hemiplegic, 1 </a>
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<a href="/entry/601011"> CACNA1A </a>
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<span class="mim-font">
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<a href="/entry/601011"> 601011 </a>
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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 class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/141500"> 141500 </a>
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<a href="/entry/601011"> CACNA1A </a>
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<a href="/entry/601011"> 601011 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because familial hemiplegic migraine-3 (FHM3) is caused by heterozygous mutation in the SCN1A gene (<a href="/entry/182389">182389</a>) on chromosome 2q24.</p><p>Mutations in the SCN1A gene also result in generalized epilepsy with febrile seizures plus (GEFS+; <a href="/entry/604233">604233</a>).</p>
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<strong>Description</strong>
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<p>Familial hemiplegic migraine-3 (FHM3) is a severe subtype of migraine with aura characterized by some degree of hemiparesis during the attacks (<a href="#1" class="mim-tip-reference" title="Dichgans, M., Freilinger, T., Eckstein, G., Babini, E., Lorenz-Depiereux, B., Biskup, S., Ferrari, M. D., Herzog, J., van den Maagdenberg, A. M. J. M., Pusch, M., Strom, T. M. <strong>Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.</strong> Lancet 366: 371-377, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16054936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16054936</a>] [<a href="https://doi.org/10.1016/S0140-6736(05)66786-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16054936">Dichgans et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16054936" 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>For a general phenotypic description and a discussion of genetic heterogeneity of FHM, see FHM1 (<a href="/entry/141500">141500</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Dichgans, M., Freilinger, T., Eckstein, G., Babini, E., Lorenz-Depiereux, B., Biskup, S., Ferrari, M. D., Herzog, J., van den Maagdenberg, A. M. J. M., Pusch, M., Strom, T. M. <strong>Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.</strong> Lancet 366: 371-377, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16054936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16054936</a>] [<a href="https://doi.org/10.1016/S0140-6736(05)66786-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16054936">Dichgans et al. (2005)</a> reported 3 unrelated families of European origin with a form of autosomal dominant FHM. Age at onset ranged from 6 to 15 years, and the episodes were associated with variable features of nausea, vomiting, photophobia, and phonophobia. Three patients also had seizures during infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16054936" 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="#3" class="mim-tip-reference" title="Le Fort, D., Safran, A. B., Picard, F., Bochardy, I., Morris, M. A. <strong>Elicited repetitive daily blindness: a new familial disorder related to migraine and epilepsy.</strong> Neurology 63: 348-350, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15277634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15277634</a>] [<a href="https://doi.org/10.1212/01.wnl.0000130251.59422.b4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15277634">Le Fort et al. (2004)</a> reported a Swiss family in which FHM segregated with what the authors termed 'elicited repetitive daily blindness' (ERDB). The 43-year-old proband reported 3 to 10 daily episodes of transient blindness since infancy. The episodes were commonly provoked by sudden changes of light intensity, orthostasis, or pressure on the eyelid; unilateral stimulation provoked an ipsilateral response, and bilateral stimulation provoked a response of both eyes. He also had episodes of classic FHM since adolescence, with unilateral sensory symptoms and weakness followed by migraine headaches. There was no temporal relationship between the FHM episodes and the ERDB. Three additional family members with ERDB also had FHM, and 2 members of a previous generation reportedly had FHM in isolation. The FHM in this family was unremarkable in itself, but was distinguished by its association with ERDB and childhood epilepsy. During childhood, the proband and his youngest daughter had idiopathic epilepsy with partial complex seizures and secondary generalization, which converted with time into FHM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15277634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Vahedi, K., Depienne, C., Le Fort, D., Riant, F., Chaine, P., Trouillard, O., Gaudric, A., Morris, M. A., LeGuern, E., Tournier-Lasserve, E., Bousser, M.-G. <strong>Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.</strong> Neurology 72: 1178-1183, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19332696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19332696</a>] [<a href="https://doi.org/10.1212/01.wnl.0000345393.53132.8c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19332696">Vahedi et al. (2009)</a> reported a 3-generation French family with FHM3. The proband was an 18-year-old woman with FHM since age 6. She also had episodes of elicited repetitive daily blindness since age 6 that occurred independently from the FHM attacks. Pupillary reflexes were absent during the ERDB episodes, but normal between episodes. Her mother and sister had FHM without EDRB episodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19332696" 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 FHM3 in the family reported by <a href="#1" class="mim-tip-reference" title="Dichgans, M., Freilinger, T., Eckstein, G., Babini, E., Lorenz-Depiereux, B., Biskup, S., Ferrari, M. D., Herzog, J., van den Maagdenberg, A. M. J. M., Pusch, M., Strom, T. M. <strong>Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.</strong> Lancet 366: 371-377, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16054936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16054936</a>] [<a href="https://doi.org/10.1016/S0140-6736(05)66786-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16054936">Dichgans et al. (2005)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16054936" 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>By genomewide linkage analysis of 3 families with FHM, <a href="#1" class="mim-tip-reference" title="Dichgans, M., Freilinger, T., Eckstein, G., Babini, E., Lorenz-Depiereux, B., Biskup, S., Ferrari, M. D., Herzog, J., van den Maagdenberg, A. M. J. M., Pusch, M., Strom, T. M. <strong>Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.</strong> Lancet 366: 371-377, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16054936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16054936</a>] [<a href="https://doi.org/10.1016/S0140-6736(05)66786-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16054936">Dichgans et al. (2005)</a> identified a disease locus on chromosome 2q24 (maximum multipoint lod score of 5.9 between markers D2S2330 and D2S399). Haplotype analysis suggested a founder effect, and the candidate interval was refined to a 12.6-Mb region. The locus was designated FHM3 (<a href="#2" class="mim-tip-reference" title="Goadsby, P. J., Kullmann, D. M. <strong>Another migraine gene.</strong> Lancet 366: 345-346, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16054921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16054921</a>] [<a href="https://doi.org/10.1016/S0140-6736(05)66787-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16054921">Goadsby and Kullmann, 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16054921+16054936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 3 European families with FHM3, <a href="#1" class="mim-tip-reference" title="Dichgans, M., Freilinger, T., Eckstein, G., Babini, E., Lorenz-Depiereux, B., Biskup, S., Ferrari, M. D., Herzog, J., van den Maagdenberg, A. M. J. M., Pusch, M., Strom, T. M. <strong>Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.</strong> Lancet 366: 371-377, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16054936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16054936</a>] [<a href="https://doi.org/10.1016/S0140-6736(05)66786-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16054936">Dichgans et al. (2005)</a> identified a heterozygous mutation in the SCN1A gene (<a href="/entry/182389#0012">182389.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16054936" 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 affected members of 2 unrelated families with FHM3 associated with elicited repetitive daily blindness, <a href="#4" class="mim-tip-reference" title="Vahedi, K., Depienne, C., Le Fort, D., Riant, F., Chaine, P., Trouillard, O., Gaudric, A., Morris, M. A., LeGuern, E., Tournier-Lasserve, E., Bousser, M.-G. <strong>Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.</strong> Neurology 72: 1178-1183, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19332696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19332696</a>] [<a href="https://doi.org/10.1212/01.wnl.0000345393.53132.8c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19332696">Vahedi et al. (2009)</a> identified respective heterozygous mutations in the SCN1A gene (<a href="/entry/182389#0021">182389.0021</a> and <a href="/entry/182389#0022">182389.0022</a>). One of the families had been reported by <a href="#3" class="mim-tip-reference" title="Le Fort, D., Safran, A. B., Picard, F., Bochardy, I., Morris, M. A. <strong>Elicited repetitive daily blindness: a new familial disorder related to migraine and epilepsy.</strong> Neurology 63: 348-350, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15277634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15277634</a>] [<a href="https://doi.org/10.1212/01.wnl.0000130251.59422.b4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15277634">Le Fort et al. (2004)</a>. <a href="#4" class="mim-tip-reference" title="Vahedi, K., Depienne, C., Le Fort, D., Riant, F., Chaine, P., Trouillard, O., Gaudric, A., Morris, M. A., LeGuern, E., Tournier-Lasserve, E., Bousser, M.-G. <strong>Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.</strong> Neurology 72: 1178-1183, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19332696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19332696</a>] [<a href="https://doi.org/10.1212/01.wnl.0000345393.53132.8c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19332696">Vahedi et al. (2009)</a> noted that ERDB has features of spreading depression, with propagation of the darkness from the periphery to the center and a refractory period. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19332696+15277634" 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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Dichgans, M., Freilinger, T., Eckstein, G., Babini, E., Lorenz-Depiereux, B., Biskup, S., Ferrari, M. D., Herzog, J., van den Maagdenberg, A. M. J. M., Pusch, M., Strom, T. M.
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<strong>Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.</strong>
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Lancet 366: 371-377, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16054936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16054936</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16054936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/S0140-6736(05)66786-4" target="_blank">Full Text</a>]
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Goadsby, P. J., Kullmann, D. M.
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<strong>Another migraine gene.</strong>
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Lancet 366: 345-346, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16054921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16054921</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16054921" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/S0140-6736(05)66787-6" target="_blank">Full Text</a>]
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Le Fort, D., Safran, A. B., Picard, F., Bochardy, I., Morris, M. A.
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<strong>Elicited repetitive daily blindness: a new familial disorder related to migraine and epilepsy.</strong>
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Neurology 63: 348-350, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15277634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15277634</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15277634" 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.0000130251.59422.b4" target="_blank">Full Text</a>]
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Vahedi, K., Depienne, C., Le Fort, D., Riant, F., Chaine, P., Trouillard, O., Gaudric, A., Morris, M. A., LeGuern, E., Tournier-Lasserve, E., Bousser, M.-G.
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<strong>Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.</strong>
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Neurology 72: 1178-1183, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19332696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19332696</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19332696" 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.0000345393.53132.8c" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 8/18/2009
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Cassandra L. Kniffin : 10/7/2005
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alopez : 06/27/2022
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carol : 03/10/2020<br>carol : 05/17/2016<br>wwang : 9/10/2009<br>ckniffin : 8/18/2009<br>wwang : 11/14/2005<br>ckniffin : 11/3/2005<br>ckniffin : 10/17/2005<br>terry : 10/14/2005<br>ckniffin : 10/13/2005
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MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3
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2q24.3
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Migraine, familial hemiplegic, 3
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609634
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<td>
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<span class="mim-font">
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SCN1A
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<span class="mim-font">
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182389
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because familial hemiplegic migraine-3 (FHM3) is caused by heterozygous mutation in the SCN1A gene (182389) on chromosome 2q24.</p><p>Mutations in the SCN1A gene also result in generalized epilepsy with febrile seizures plus (GEFS+; 604233).</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Familial hemiplegic migraine-3 (FHM3) is a severe subtype of migraine with aura characterized by some degree of hemiparesis during the attacks (Dichgans et al., 2005). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of FHM, see FHM1 (141500).</p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Dichgans et al. (2005) reported 3 unrelated families of European origin with a form of autosomal dominant FHM. Age at onset ranged from 6 to 15 years, and the episodes were associated with variable features of nausea, vomiting, photophobia, and phonophobia. Three patients also had seizures during infancy. </p><p>Le Fort et al. (2004) reported a Swiss family in which FHM segregated with what the authors termed 'elicited repetitive daily blindness' (ERDB). The 43-year-old proband reported 3 to 10 daily episodes of transient blindness since infancy. The episodes were commonly provoked by sudden changes of light intensity, orthostasis, or pressure on the eyelid; unilateral stimulation provoked an ipsilateral response, and bilateral stimulation provoked a response of both eyes. He also had episodes of classic FHM since adolescence, with unilateral sensory symptoms and weakness followed by migraine headaches. There was no temporal relationship between the FHM episodes and the ERDB. Three additional family members with ERDB also had FHM, and 2 members of a previous generation reportedly had FHM in isolation. The FHM in this family was unremarkable in itself, but was distinguished by its association with ERDB and childhood epilepsy. During childhood, the proband and his youngest daughter had idiopathic epilepsy with partial complex seizures and secondary generalization, which converted with time into FHM. </p><p>Vahedi et al. (2009) reported a 3-generation French family with FHM3. The proband was an 18-year-old woman with FHM since age 6. She also had episodes of elicited repetitive daily blindness since age 6 that occurred independently from the FHM attacks. Pupillary reflexes were absent during the ERDB episodes, but normal between episodes. Her mother and sister had FHM without EDRB episodes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of FHM3 in the family reported by Dichgans et al. (2005) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomewide linkage analysis of 3 families with FHM, Dichgans et al. (2005) identified a disease locus on chromosome 2q24 (maximum multipoint lod score of 5.9 between markers D2S2330 and D2S399). Haplotype analysis suggested a founder effect, and the candidate interval was refined to a 12.6-Mb region. The locus was designated FHM3 (Goadsby and Kullmann, 2005). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 3 European families with FHM3, Dichgans et al. (2005) identified a heterozygous mutation in the SCN1A gene (182389.0012). </p><p>In affected members of 2 unrelated families with FHM3 associated with elicited repetitive daily blindness, Vahedi et al. (2009) identified respective heterozygous mutations in the SCN1A gene (182389.0021 and 182389.0022). One of the families had been reported by Le Fort et al. (2004). Vahedi et al. (2009) noted that ERDB has features of spreading depression, with propagation of the darkness from the periphery to the center and a refractory period. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Dichgans, M., Freilinger, T., Eckstein, G., Babini, E., Lorenz-Depiereux, B., Biskup, S., Ferrari, M. D., Herzog, J., van den Maagdenberg, A. M. J. M., Pusch, M., Strom, T. M.
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<strong>Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.</strong>
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Lancet 366: 371-377, 2005.
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[PubMed: 16054936]
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[Full Text: https://doi.org/10.1016/S0140-6736(05)66786-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Goadsby, P. J., Kullmann, D. M.
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<strong>Another migraine gene.</strong>
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Lancet 366: 345-346, 2005.
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[PubMed: 16054921]
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[Full Text: https://doi.org/10.1016/S0140-6736(05)66787-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Le Fort, D., Safran, A. B., Picard, F., Bochardy, I., Morris, M. A.
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<strong>Elicited repetitive daily blindness: a new familial disorder related to migraine and epilepsy.</strong>
|
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Neurology 63: 348-350, 2004.
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[PubMed: 15277634]
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[Full Text: https://doi.org/10.1212/01.wnl.0000130251.59422.b4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Vahedi, K., Depienne, C., Le Fort, D., Riant, F., Chaine, P., Trouillard, O., Gaudric, A., Morris, M. A., LeGuern, E., Tournier-Lasserve, E., Bousser, M.-G.
|
|
<strong>Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.</strong>
|
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Neurology 72: 1178-1183, 2009.
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[PubMed: 19332696]
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[Full Text: https://doi.org/10.1212/01.wnl.0000345393.53132.8c]
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</p>
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</li>
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</ol>
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<div>
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<br />
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/18/2009
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 10/7/2005
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</span>
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<span class="text-nowrap mim-text-font">
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Edit History:
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alopez : 06/27/2022<br>carol : 03/10/2020<br>carol : 05/17/2016<br>wwang : 9/10/2009<br>ckniffin : 8/18/2009<br>wwang : 11/14/2005<br>ckniffin : 11/3/2005<br>ckniffin : 10/17/2005<br>terry : 10/14/2005<br>ckniffin : 10/13/2005
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