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<meta name="keywords" content="C1865322, atp1a2, atp1a2 familial or sporadic hemiplegic migraine, disease or syndrome, familial hemiplegic migraine type 2, familial hemiplegic migraine, type 2, familial or sporadic hemiplegic migraine caused by mutation in atp1a2, fhm2, hemiplegic migraine, familial type 2, mhp2, migraine, familial basilar, migraine, familial hemiplegic, 2, migraine, familial hemiplegic, type 2, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Migraine, familial hemiplegic, 2 (Concept Id: C1865322)
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<!--
UID=355962
ConceptID=C1865322
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Migraine, familial hemiplegic, 2<span class="h1sub">(FHM2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355962</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1865322</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Familial hemiplegic migraine, type 2; Hemiplegic migraine, familial type 2</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Familial hemiplegic migraine type 2 (1260330000)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="ATP1A2 - ID: 477 - NCBI Gene" href="/gene/477" class="medgenPMinfo">ATP1A2</a> (1q23.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0011232" target="_blank">MONDO:0011232</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/602481" target="_blank">602481</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1388" target="_blank">Familial Hemiplegic Migraine</a></div><div>Familial hemiplegic migraine (FHM) falls within the category of migraine with aura. In migraine with aura (including FHM) the neurologic symptoms of aura are unequivocally localizable to the cerebral cortex or brain stem and include visual disturbance (most common), sensory loss (e.g., numbness or paresthesias of the face or an extremity), and dysphasia (difficulty with speech). FHM must include motor involvement, such as hemiparesis (weakness of an extremity). Hemiparesis occurs with at least one other symptom during FHM aura. Neurologic deficits with FHM attacks can be prolonged for hours to days and may outlast the associated migrainous headache. FHM is often earlier in onset than typical migraine, frequently beginning in the first or second decade; the frequency of attacks tends to decrease with age. Approximately 40%-50% of families with CACNA1A-FHM have cerebellar signs ranging from nystagmus to progressive, usually late-onset mild ataxia. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1388#fhm.Summary" target="NBK1388">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1388#fhm.Diagnosis" target="NBK1388">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1388#fhm.Clinical_Characteristics" target="NBK1388">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1388#fhm.Genetically_Related_Allelic_Disorder" target="NBK1388">Genetically Related (Allelic) Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1388#fhm.Differential_Diagnosis" target="NBK1388">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1388#fhm.Management" target="NBK1388">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1388#fhm.Genetic_Counseling" target="NBK1388">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1388#fhm.Resources" target="NBK1388">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1388#fhm.Molecular_Genetics" target="NBK1388">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1388#fhm.Chapter_Notes" target="NBK1388">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1388#fhm.References" target="NBK1388">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Joanna C Jen   <a href="/books/NBK1388" target="NBK1388" title="NCBI Bookshelf: Familial Hemiplegic Migraine">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Familial hemiplegic migraine is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days.<br /><br />Unusually severe migraine episodes have been reported in some people with familial hemiplegic migraine. These episodes have included fever, seizures, prolonged weakness, coma, and, rarely, death. Although most people with familial hemiplegic migraine recover completely between episodes, neurological symptoms such as memory loss and problems with attention can last for weeks or months. About 20 percent of people with this condition develop mild but permanent difficulty coordinating movements (ataxia), which may worsen with time, and rapid, involuntary eye movements called nystagmus.<br /><br />In some types of migraine, including familial hemiplegic migraine, a pattern of neurological symptoms called an aura precedes the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. An aura typically develops gradually over a few minutes and lasts about an hour.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-hemiplegic-migraine">https://medlineplus.gov/genetics/condition/familial-hemiplegic-migraine</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_10196"><div><strong>Nausea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10196</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0027497</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A sensation of unease in the stomach together with an urge to vomit.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10196">Feature record</a> | <a href="/medgen?term=%22Nausea%22%5BClinical%20Features%5D%20OR%2010196%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_53006"><div><strong>Vertigo</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>53006</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0042571</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal sensation of spinning while the body is actually stationary.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/53006">Feature record</a> | <a href="/medgen?term=%22Vertigo%22%5BClinical%20Features%5D%20OR%2053006%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8159"><div><strong>Aphasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8159</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0003537</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8159">Feature record</a> | <a href="/medgen?term=%22Aphasia%22%5BClinical%20Features%5D%20OR%208159%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8166"><div><strong>Apraxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8166</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0003635</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8166">Feature record</a> | <a href="/medgen?term=%22Apraxia%22%5BClinical%20Features%5D%20OR%208166%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2337"><div><strong>Cerebral edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2337</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0006114</a></dd><dt><span class="dotprefix"></span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal accumulation of fluid in the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2337">Feature record</a> | <a href="/medgen?term=%22Cerebral%20edema%22%5BClinical%20Features%5D%20OR%202337%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1054"><div><strong>Coma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1054</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0009421</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1054">Feature record</a> | <a href="/medgen?term=%22Coma%22%5BClinical%20Features%5D%20OR%201054%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_3587"><div><strong>Confusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3587</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0009676</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Lack of clarity and coherence of thought, perception, understanding, or action.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/3587">Feature record</a> | <a href="/medgen?term=%22Confusion%22%5BClinical%20Features%5D%20OR%203587%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4390"><div><strong>Drowsiness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4390</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0013144</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal feeling of sleepiness or difficulty staying awake.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4390">Feature record</a> | <a href="/medgen?term=%22Drowsiness%22%5BClinical%20Features%5D%20OR%204390%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0013362</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5237"><div><strong>Focal motor seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5237</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0016399</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5237">Feature record</a> | <a href="/medgen?term=%22Focal%20motor%20seizure%22%5BClinical%20Features%5D%20OR%205237%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6783"><div><strong>Hemiparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6783</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0018989</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6783">Feature record</a> | <a href="/medgen?term=%22Hemiparesis%22%5BClinical%20Features%5D%20OR%206783%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9196"><div><strong>Hemiplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9196</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0018991</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9196">Feature record</a> | <a href="/medgen?term=%22Hemiplegia%22%5BClinical%20Features%5D%20OR%209196%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0040822</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57451"><div><strong>Migraine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57451</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0149931</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57451">Feature record</a> | <a href="/medgen?term=%22Migraine%22%5BClinical%20Features%5D%20OR%2057451%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57822"><div><strong>Migraine with aura</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57822</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0154723</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57822">Feature record</a> | <a href="/medgen?term=%22Migraine%20with%20aura%22%5BClinical%20Features%5D%20OR%2057822%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_68583"><div><strong>Dysmetria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68583</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0234162</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/68583">Feature record</a> | <a href="/medgen?term=%22Dysmetria%22%5BClinical%20Features%5D%20OR%2068583%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0494475</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0740279</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_155642"><div><strong>Gait ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155642</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0751837</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/155642">Feature record</a> | <a href="/medgen?term=%22Gait%20ataxia%22%5BClinical%20Features%5D%20OR%20155642%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_314033"><div><strong>Hereditary episodic ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314033</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1720189</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/314033">Feature record</a> | <a href="/medgen?term=%22Hereditary%20episodic%20ataxia%22%5BClinical%20Features%5D%20OR%20314033%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3714756</a></dd><dt><span class="dotprefix"></span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_5169"><div><strong>Fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5169</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0015967</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Body temperature elevated above the normal range.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/5169">Feature record</a> | <a href="/medgen?term=%22Fever%22%5BClinical%20Features%5D%20OR%205169%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_41600"><div><strong>Diplopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41600</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0012569</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41600">Feature record</a> | <a href="/medgen?term=%22Diplopia%22%5BClinical%20Features%5D%20OR%2041600%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0028738</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_91020"><div><strong>Blurred vision</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91020</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0344232</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Lack of sharpness of vision resulting in the inability to see fine detail.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/91020">Feature record</a> | <a href="/medgen?term=%22Blurred%20vision%22%5BClinical%20Features%5D%20OR%2091020%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_356249"><div><strong>Transient unilateral blurring of vision</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356249</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1865332</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Transient blurring of vision associated with the aura phase of migraine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356249">Feature record</a> | <a href="/medgen?term=%22Transient%20unilateral%20blurring%20of%20vision%22%5BClinical%20Features%5D%20OR%20356249%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fever</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nausea</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_91020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blurred vision</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diplopia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356249" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transient unilateral blurring of vision</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aphasia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apraxia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral edema</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coma</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Confusion</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4390" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Drowsiness</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysmetria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5237" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Focal motor seizure</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_155642" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait ataxia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6783" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemiparesis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9196" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemiplegia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_314033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary episodic ataxia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine with aura</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_53006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertigo</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/977550" ref="tree=GTR&amp;ncbi_uid=977550&amp;link_uid=977550" title="View MedGen record for 'Familial or sporadic hemiplegic migraine'">Familial or sporadic hemiplegic migraine</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0338484[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=87374">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1388/" ref="ncbi_uid=87374">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=87374" ref="ncbi_uid=87374">V</a></span></span><span class="TLline"><a href="/medgen/87374" ref="tree=GTR&amp;ncbi_uid=87374&amp;link_uid=87374" title="View MedGen record for 'Familial hemiplegic migraine'">Familial hemiplegic migraine</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832884[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=331388">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331388" target="_blank" href="/omim/141500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1388/" ref="ncbi_uid=331388">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=331388" ref="ncbi_uid=331388">V</a></span></span><span class="TLline"><a href="/medgen/331388" ref="tree=GTR&amp;ncbi_uid=331388&amp;link_uid=331388" title="View MedGen record for 'Migraine, familial hemiplegic, 1'">Migraine, familial hemiplegic, 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865322[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=355962">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355962" target="_blank" href="/omim/182340">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1388/" ref="ncbi_uid=355962">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=355962" ref="ncbi_uid=355962">V</a></span></span><span class="TLline">Migraine, familial hemiplegic, 2</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864987[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=400655">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400655" target="_blank" href="/omim/182389">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1388/" ref="ncbi_uid=400655">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=400655" ref="ncbi_uid=400655">V</a></span></span><span class="TLline"><a href="/medgen/400655" ref="tree=GTR&amp;ncbi_uid=400655&amp;link_uid=400655" title="View MedGen record for 'Migraine, familial hemiplegic, 3'">Migraine, familial hemiplegic, 3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=318737" target="_blank" href="/omim/141500">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=318737" ref="ncbi_uid=318737">V</a></span></span><span class="TLline"><a href="/medgen/318737" ref="tree=GTR&amp;ncbi_uid=318737&amp;link_uid=318737" title="View MedGen record for 'Sporadic hemiplegic migraine'">Sporadic hemiplegic migraine</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842641" ref="tree=MeSH" title="MedGen record for Benign partial infantile seizures">Benign partial infantile seizures</a></span><ul><li><span class="TLline"><a href="/medgen/977550" ref="tree=MeSH" title="MedGen record for Familial or sporadic hemiplegic migraine">Familial or sporadic hemiplegic migraine</a></span><ul><li><span class="TLline"><a href="/medgen/87374" ref="tree=MeSH" title="MedGen record for Familial hemiplegic migraine">Familial hemiplegic migraine</a></span><ul><li><span class="matched_ds">Migraine, familial hemiplegic, 2</span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/36592223">CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Indelicato E,
Boesch S</span><br />
<span class="medgenPMjournal">Handb Exp Pharmacol</span>
2023;279:227-248.
doi: 10.1007/164_2022_625.
<span class="bold">PMID: </span><a href="/pubmed/36592223" target="_blank">36592223</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34102571">CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Le Roux M,
Barth M,
Gueden S,
Desbordes de Cepoy P,
Aeby A,
Vilain C,
Hirsch E,
de Saint Martin A,
Portes VD,
Lesca G,
Riquet A,
Chaton L,
Villeneuve N,
Villard L,
Cances C,
Valton L,
Renaldo F,
Vermersch AI,
Altuzarra C,
Nguyen-Morel MA,
Van Gils J,
Angelini C,
Biraben A,
Arnaud L,
Riant F,
Van Bogaert P</span><br />
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
2021 Jul;33:75-85.
Epub 2021 May 26
doi: 10.1016/j.ejpn.2021.05.010.
<span class="bold">PMID: </span><a href="/pubmed/34102571" target="_blank">34102571</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14755732">Deciphering migraine mechanisms: clues from familial hemiplegic migraine genotypes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moskowitz MA,
Bolay H,
Dalkara T</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
2004 Feb;55(2):276-80.
doi: 10.1002/ana.20035.
<span class="bold">PMID: </span><a href="/pubmed/14755732" target="_blank">14755732</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(migraine%2C%20familial%20hemiplegic%2C%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (8)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.orpha.net/data/patho/Pro/en/Emergency_HemiplegicMigraine-enPro1031.pdf" target="_blank">Orphanet, Hemiplegic Migraine (HM), 2013</a></h3>
</div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/37326332">Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mangano GD,
Capizzi MR,
Mantuano E,
Veneziano L,
Santangelo G,
Quatrosi G,
Nardello R,
Raieli V</span><br />
<span class="medgenPMjournal">Headache</span>
2023 Jul-Aug;63(7):889-898.
Epub 2023 Jun 16
doi: 10.1111/head.14582.
<span class="bold">PMID: </span><a href="/pubmed/37326332" target="_blank">37326332</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36759319">Migraine genetics: Status and road forward.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Harder AVE,
Terwindt GM,
Nyholt DR,
van den Maagdenberg AMJM</span><br />
<span class="medgenPMjournal">Cephalalgia</span>
2023 Feb;43(2):3331024221145962.
doi: 10.1177/03331024221145962.
<span class="bold">PMID: </span><a href="/pubmed/36759319" target="_blank">36759319</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34649875">Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Riant F,
Roos C,
Roubertie A,
Barbance C,
Hadjadj J,
Auvin S,
Baille G,
Beltramone M,
Boulanger C,
Cahn A,
Cata F,
Cheuret E,
Cuvellier JC,
Defo A,
Demarquay G,
Donnet A,
Gaillard N,
Massardier E,
Guy N,
Lamoureux S,
Le Moigno L,
Lucas C,
Ratiu D,
Redon S,
Rey C,
Thauvin C,
Viallet F,
Tournier-Lasserve E,
Ducros A</span><br />
<span class="medgenPMjournal">Neurology</span>
2022 Jan 4;98(1):e51-e61.
Epub 2021 Oct 14
doi: 10.1212/WNL.0000000000012947.
<span class="bold">PMID: </span><a href="/pubmed/34649875" target="_blank">34649875</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33856647">Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gotra P,
Bhardwaj N,
Ludhiadch A,
Singh G,
Munshi A</span><br />
<span class="medgenPMjournal">Mol Neurobiol</span>
2021 Aug;58(8):3874-3883.
Epub 2021 Apr 15
doi: 10.1007/s12035-021-02386-x.
<span class="bold">PMID: </span><a href="/pubmed/33856647" target="_blank">33856647</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31142262">Aura and Stroke: relationship and what we have learnt from preclinical models.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yemisci M,
Eikermann-Haerter K</span><br />
<span class="medgenPMjournal">J Headache Pain</span>
2019 May 29;20(1):63.
doi: 10.1186/s10194-019-1016-x.
<span class="bold">PMID: </span><a href="/pubmed/31142262" target="_blank">31142262</a><a href="/pmc/articles/PMC6734247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Migraine%2C%20familial%20hemiplegic%2C%202%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (67)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36592223">CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Indelicato E,
Boesch S</span><br />
<span class="medgenPMjournal">Handb Exp Pharmacol</span>
2023;279:227-248.
doi: 10.1007/164_2022_625.
<span class="bold">PMID: </span><a href="/pubmed/36592223" target="_blank">36592223</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35696452">The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brunklaus A,
Brünger T,
Feng T,
Fons C,
Lehikoinen A,
Panagiotakaki E,
Vintan MA,
Symonds J,
Andrew J,
Arzimanoglou A,
Delima S,
Gallois J,
Hanrahan D,
Lesca G,
MacLeod S,
Marjanovic D,
McTague A,
Nuñez-Enamorado N,
Perez-Palma E,
Scott Perry M,
Pysden K,
Russ-Hall SJ,
Scheffer IE,
Sully K,
Syrbe S,
Vaher U,
Velayutham M,
Vogt J,
Weiss S,
Wirrell E,
Zuberi SM,
Lal D,
Møller RS,
Mantegazza M,
Cestèle S</span><br />
<span class="medgenPMjournal">Brain</span>
2022 Nov 21;145(11):3816-3831.
doi: 10.1093/brain/awac210.
<span class="bold">PMID: </span><a href="/pubmed/35696452" target="_blank">35696452</a><a href="/pmc/articles/PMC9679167" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34806130">The complexities of CACNA1A in clinical neurogenetics.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hommersom MP,
van Prooije TH,
Pennings M,
Schouten MI,
van Bokhoven H,
Kamsteeg EJ,
van de Warrenburg BPC</span><br />
<span class="medgenPMjournal">J Neurol</span>
2022 Jun;269(6):3094-3108.
Epub 2021 Nov 22
doi: 10.1007/s00415-021-10897-9.
<span class="bold">PMID: </span><a href="/pubmed/34806130" target="_blank">34806130</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34755206">Instrumented gait analysis defines the walking signature of CACNA1A disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Indelicato E,
Raccagni C,
Runer S,
Hannink J,
Nachbauer W,
Eigentler A,
Amprosi M,
Wenning G,
Boesch S</span><br />
<span class="medgenPMjournal">J Neurol</span>
2022 Jun;269(6):2941-2947.
Epub 2021 Nov 9
doi: 10.1007/s00415-021-10878-y.
<span class="bold">PMID: </span><a href="/pubmed/34755206" target="_blank">34755206</a><a href="/pmc/articles/PMC9120104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28058944">Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prontera P,
Sarchielli P,
Caproni S,
Bedetti C,
Cupini LM,
Calabresi P,
Costa C</span><br />
<span class="medgenPMjournal">Cephalalgia</span>
2018 Feb;38(2):361-373.
Epub 2017 Jan 6
doi: 10.1177/0333102416686347.
<span class="bold">PMID: </span><a href="/pubmed/28058944" target="_blank">28058944</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Migraine%2C%20familial%20hemiplegic%2C%202%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (100)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/33856647">Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gotra P,
Bhardwaj N,
Ludhiadch A,
Singh G,
Munshi A</span><br />
<span class="medgenPMjournal">Mol Neurobiol</span>
2021 Aug;58(8):3874-3883.
Epub 2021 Apr 15
doi: 10.1007/s12035-021-02386-x.
<span class="bold">PMID: </span><a href="/pubmed/33856647" target="_blank">33856647</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26728486">Acetazolamide in vestibular migraine prophylaxis: a retrospective study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Çelebisoy N,
Gökçay F,
Karahan C,
Bilgen C,
Kirazlı T,
Karapolat H,
Köse T</span><br />
<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
2016 Oct;273(10):2947-51.
Epub 2016 Jan 4
doi: 10.1007/s00405-015-3874-4.
<span class="bold">PMID: </span><a href="/pubmed/26728486" target="_blank">26728486</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9533553">Episodic ataxia and channelopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gordon N</span><br />
<span class="medgenPMjournal">Brain Dev</span>
1998 Jan;20(1):9-13.
doi: 10.1016/s0387-7604(97)00086-7.
<span class="bold">PMID: </span><a href="/pubmed/9533553" target="_blank">9533553</a></div>
<div class="nl"><a target="_blank" href="/pubmed/6871987">Non-familial hemiplegic migraine responsive to naloxone.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Centonze V,
Brucoli C,
Macinagrossa G,
Attolini E,
Campanozzi F,
Albano O</span><br />
<span class="medgenPMjournal">Cephalalgia</span>
1983 Jun;3(2):125-7.
doi: 10.1046/j.1468-2982.1983.0302125.x.
<span class="bold">PMID: </span><a href="/pubmed/6871987" target="_blank">6871987</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7131142">Hemiplegic migraine in childhood: diagnostic and therapeutic aspects.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lai CW,
Ziegler DK,
Lansky LL,
Torres F</span><br />
<span class="medgenPMjournal">J Pediatr</span>
1982 Nov;101(5):696-9.
doi: 10.1016/s0022-3476(82)80293-x.
<span class="bold">PMID: </span><a href="/pubmed/7131142" target="_blank">7131142</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Migraine%2C%20familial%20hemiplegic%2C%202%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (32)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37326332">Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow-up study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mangano GD,
Capizzi MR,
Mantuano E,
Veneziano L,
Santangelo G,
Quatrosi G,
Nardello R,
Raieli V</span><br />
<span class="medgenPMjournal">Headache</span>
2023 Jul-Aug;63(7):889-898.
Epub 2023 Jun 16
doi: 10.1111/head.14582.
<span class="bold">PMID: </span><a href="/pubmed/37326332" target="_blank">37326332</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35722745">Clinical and genetic characterization of CACNA1A-related disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lipman AR,
Fan X,
Shen Y,
Chung WK</span><br />
<span class="medgenPMjournal">Clin Genet</span>
2022 Oct;102(4):288-295.
Epub 2022 Jun 26
doi: 10.1111/cge.14180.
<span class="bold">PMID: </span><a href="/pubmed/35722745" target="_blank">35722745</a><a href="/pmc/articles/PMC9458680" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33711927">Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Antonaci F,
Ravaglia S,
Grieco GS,
Gagliardi S,
Cereda C,
Costa A</span><br />
<span class="medgenPMjournal">J Headache Pain</span>
2021 Mar 12;22(1):12.
doi: 10.1186/s10194-021-01221-x.
<span class="bold">PMID: </span><a href="/pubmed/33711927" target="_blank">33711927</a><a href="/pmc/articles/PMC7953819" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31782251">SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brunklaus A,
Schorge S,
Smith AD,
Ghanty I,
Stewart K,
Gardiner S,
Du J,
Pérez-Palma E,
Symonds JD,
Collier AC,
Lal D,
Zuberi SM</span><br />
<span class="medgenPMjournal">Hum Mutat</span>
2020 Feb;41(2):363-374.
Epub 2019 Nov 28
doi: 10.1002/humu.23943.
<span class="bold">PMID: </span><a href="/pubmed/31782251" target="_blank">31782251</a></div>
<div class="nl"><a target="_blank" href="/pubmed/14728703">Vertigo and dizziness related to migraine: a diagnostic challenge.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Neuhauser H,
Lempert T</span><br />
<span class="medgenPMjournal">Cephalalgia</span>
2004 Feb;24(2):83-91.
doi: 10.1111/j.1468-2982.2004.00662.x.
<span class="bold">PMID: </span><a href="/pubmed/14728703" target="_blank">14728703</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Migraine%2C%20familial%20hemiplegic%2C%202%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (38)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38743163">CACNA1A variant associated with generalized dystonia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rinaldi D,
Tangari MM,
Ledda C,
Dematteis F,
Rizzone MG,
Lopiano L,
Artusi CA</span><br />
<span class="medgenPMjournal">Neurol Sci</span>
2024 Sep;45(9):4589-4592.
Epub 2024 May 14
doi: 10.1007/s10072-024-07592-8.
<span class="bold">PMID: </span><a href="/pubmed/38743163" target="_blank">38743163</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35722745">Clinical and genetic characterization of CACNA1A-related disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lipman AR,
Fan X,
Shen Y,
Chung WK</span><br />
<span class="medgenPMjournal">Clin Genet</span>
2022 Oct;102(4):288-295.
Epub 2022 Jun 26
doi: 10.1111/cge.14180.
<span class="bold">PMID: </span><a href="/pubmed/35722745" target="_blank">35722745</a><a href="/pmc/articles/PMC9458680" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32458086">Rare CACNA1A mutations leading to congenital ataxia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Izquierdo-Serra M,
Fernández-Fernández JM,
Serrano M</span><br />
<span class="medgenPMjournal">Pflugers Arch</span>
2020 Jul;472(7):791-809.
Epub 2020 May 26
doi: 10.1007/s00424-020-02396-z.
<span class="bold">PMID: </span><a href="/pubmed/32458086" target="_blank">32458086</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28058944">Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prontera P,
Sarchielli P,
Caproni S,
Bedetti C,
Cupini LM,
Calabresi P,
Costa C</span><br />
<span class="medgenPMjournal">Cephalalgia</span>
2018 Feb;38(2):361-373.
Epub 2017 Jan 6
doi: 10.1177/0333102416686347.
<span class="bold">PMID: </span><a href="/pubmed/28058944" target="_blank">28058944</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17578530">The cerebellum and migraine.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vincent M,
Hadjikhani N</span><br />
<span class="medgenPMjournal">Headache</span>
2007 Jun;47(6):820-33.
doi: 10.1111/j.1526-4610.2006.00715.x.
<span class="bold">PMID: </span><a href="/pubmed/17578530" target="_blank">17578530</a><a href="/pmc/articles/PMC3761082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Migraine%2C%20familial%20hemiplegic%2C%202%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (72)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/36833327">Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schaare D,
Sarasua SM,
Lusk L,
Parthasarathy S,
Wang L,
Helbig I,
Boccuto L</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Feb 3;14(2)
doi: 10.3390/genes14020400.
<span class="bold">PMID: </span><a href="/pubmed/36833327" target="_blank">36833327</a><a href="/pmc/articles/PMC9956337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28058944">Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prontera P,
Sarchielli P,
Caproni S,
Bedetti C,
Cupini LM,
Calabresi P,
Costa C</span><br />
<span class="medgenPMjournal">Cephalalgia</span>
2018 Feb;38(2):361-373.
Epub 2017 Jan 6
doi: 10.1177/0333102416686347.
<span class="bold">PMID: </span><a href="/pubmed/28058944" target="_blank">28058944</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Migraine%2C%20familial%20hemiplegic%2C%202%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1865322%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (22)</a></li>
<li><a href="/gtr/tests?term=C1865322%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C1865322%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
<li><a href="/gtr/tests?term=C1865322%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1865322%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=602481" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Migraine,%20familial%20hemiplegic,%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(migraine%2C%20familial%20hemiplegic%2C%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.orpha.net/data/patho/Pro/en/Emergency_HemiplegicMigraine-enPro1031.pdf">Orphanet, 2013</a><div>Orphanet, Hemiplegic Migraine (HM), 2013</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=182340" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=477[geneid]" target="_blank">View ATP1A2 variations in ClinVar</a></li><li><a href="/nuccore/190341061" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=602481" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hemiplegic+migraine%2C+familial+type+2/3287" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/migraine_familial_hemiplegic_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Migraine,%20familial%20hemiplegic,%202" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/familial-hemiplegic-migraine" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10095/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Migraine,%20familial%20hemiplegic,%202" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Migraine,%20familial%20hemiplegic,%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=3&amp;linkpostotal=3" target="_blank">Reviews in PubMed</a>
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