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<meta name="keywords" content="C0338484, disease or syndrome, familial hemiplegic migraine, familial hemiplegic migraines, fhm, hemiplegic migraine, familial, hemiplegic-ophthalmoplegic migraine, hereditary hemiplegic migraine, 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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<!--
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||
UID=87374
|
||
ConceptID=C0338484
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Familial hemiplegic migraine</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87374</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) Click for more information."><span class="highlight" style="background-color:">C0338484</span></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; Familial Hemiplegic Migraines; Hemiplegic Migraine, Familial; Hemiplegic-Ophthalmoplegic Migraine</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Familial hemiplegic migraine (95656000); Hemiplegic-ophthalmoplegic migraine (95656000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/6323">SCN1A</a>, <a target="_blank" href="/gene/773">CACNA1A</a>, <a target="_blank" href="/gene/477">ATP1A2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0000700" target="_blank">MONDO:0000700</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS141500" target="_blank">PS141500</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 />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 />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 />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_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&ncbi_uid=977550&link_uid=977550" title="View MedGen record for 'Familial or sporadic hemiplegic migraine'">Familial or sporadic hemiplegic migraine</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0338484[DISCUI]&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&from_uid=87374" ref="ncbi_uid=87374">V</a></span></span><span class="TLline">Familial hemiplegic migraine</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]&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&from_uid=331388" ref="ncbi_uid=331388">V</a></span></span><span class="TLline"><a href="/medgen/331388" ref="tree=GTR&ncbi_uid=331388&link_uid=331388" title="View MedGen record for 'Migraine, familial hemiplegic, 1'">Migraine, familial hemiplegic, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865322[DISCUI]&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&from_uid=355962" ref="ncbi_uid=355962">V</a></span></span><span class="TLline"><a href="/medgen/355962" ref="tree=GTR&ncbi_uid=355962&link_uid=355962" title="View MedGen record for 'Migraine, familial hemiplegic, 2'">Migraine, familial hemiplegic, 2</a></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]&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&from_uid=400655" ref="ncbi_uid=400655">V</a></span></span><span class="TLline"><a href="/medgen/400655" ref="tree=GTR&ncbi_uid=400655&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&from_uid=318737" ref="ncbi_uid=318737">V</a></span></span><span class="TLline"><a href="/medgen/318737" ref="tree=GTR&ncbi_uid=318737&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="matched_ds">Familial hemiplegic migraine</span><ul><li><span class="TLline"><a href="/medgen/331388" ref="tree=MeSH" title="MedGen record for Migraine, familial hemiplegic, 1">Migraine, familial hemiplegic, 1</a></span></li><li><span class="TLline"><a href="/medgen/355962" ref="tree=MeSH" title="MedGen record for Migraine, familial hemiplegic, 2">Migraine, familial hemiplegic, 2</a></span></li><li><span class="TLline"><a href="/medgen/400655" ref="tree=MeSH" title="MedGen record for Migraine, familial hemiplegic, 3">Migraine, familial hemiplegic, 3</a></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=(%22familial%20hemiplegic%20migraine%22%5Btiab%3A~0%5D)%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 (12)</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/38043972">Pathophysiology of migraine aura.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanchez Del Rio M,
|
||
Cutrer FM</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;198:71-83.
|
||
doi: 10.1016/B978-0-12-823356-6.00016-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38043972" target="_blank">38043972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36800925">Genetics of migraine: where are we now?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grangeon L,
|
||
Lange KS,
|
||
Waliszewska-Prosół M,
|
||
Onan D,
|
||
Marschollek K,
|
||
Wiels W,
|
||
Mikulenka P,
|
||
Farham F,
|
||
Gollion C,
|
||
Ducros A;
|
||
European Headache Federation School of Advanced Studies (EHF-SAS)</span><br />
|
||
<span class="medgenPMjournal">J Headache Pain</span>
|
||
2023 Feb 20;24(1):12.
|
||
doi: 10.1186/s10194-023-01547-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36800925" target="_blank">36800925</a><a href="/pmc/articles/PMC9940421" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34304862">Genetics of migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ducros A</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2021 Sep;177(7):801-808.
|
||
Epub 2021 Jul 23
|
||
doi: 10.1016/j.neurol.2021.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34304862" target="_blank">34304862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29478595">Genetics of migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anttila V,
|
||
Wessman M,
|
||
Kallela M,
|
||
Palotie A</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;148:493-503.
|
||
doi: 10.1016/B978-0-444-64076-5.00031-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29478595" target="_blank">29478595</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15566415">Sporadic hemiplegic migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomsen LL,
|
||
Olesen J</span><br />
|
||
<span class="medgenPMjournal">Cephalalgia</span>
|
||
2004 Dec;24(12):1016-23.
|
||
doi: 10.1111/j.1468-2982.2004.00788.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15566415" target="_blank">15566415</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hemiplegic%20migraine%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 (98)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37247170">Hemiplegic Migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nandyala A,
|
||
Shah T,
|
||
Ailani J</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2023 Jul;23(7):381-387.
|
||
Epub 2023 May 29
|
||
doi: 10.1007/s11910-023-01277-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37247170" target="_blank">37247170</a></div>
|
||
|
||
<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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hemiplegic%20migraine%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 (162)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38547067">Brainstem depolarization-induced lethal apnea associated with gain-of-function SCN1A(L263V) is prevented by sodium channel blockade.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jansen NA,
|
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Cestèle S,
|
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Marco SS,
|
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Schenke M,
|
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Stewart K,
|
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Patel J,
|
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Tolner EA,
|
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Brunklaus A,
|
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Mantegazza M,
|
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van den Maagdenberg AMJM</span><br />
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<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
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2024 Apr 2;121(14):e2309000121.
|
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Epub 2024 Mar 28
|
||
doi: 10.1073/pnas.2309000121.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38547067" target="_blank">38547067</a><a href="/pmc/articles/PMC10998578" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/33856647">Epilepsy and Migraine Shared Genetic and Molecular Mechanisms: Focus on Therapeutic Strategies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gotra P,
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Bhardwaj N,
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Ludhiadch A,
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Singh G,
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Munshi A</span><br />
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<span class="medgenPMjournal">Mol Neurobiol</span>
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2021 Aug;58(8):3874-3883.
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Epub 2021 Apr 15
|
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doi: 10.1007/s12035-021-02386-x.
|
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<span class="bold">PMID: </span><a href="/pubmed/33856647" target="_blank">33856647</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/20542393">Genetic diagnosis and acetazolamide treatment of familial hemiplegic migraine.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Omata T,
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Takanashi J,
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Wada T,
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Arai H,
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<span class="bold">PMID: </span><a href="/pubmed/20542393" target="_blank">20542393</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11706128">Familial hemiplegic migraine and its abortive therapy with intravenous verapamil.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yu W,
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Horowitz SH</span><br />
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<span class="medgenPMjournal">Neurology</span>
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<div class="nl"><a target="_blank" href="/pubmed/1127995">Familial hemiplegic migraine.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Glista GG,
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Mellinger JF,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hemiplegic%20migraine%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 (55)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/35722745">Clinical and genetic characterization of CACNA1A-related disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lipman AR,
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Fan X,
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Shen Y,
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Chung WK</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
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Epub 2022 Jun 26
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<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/33880529">ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vetro A,
|
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Nielsen HN,
|
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Holm R,
|
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Hevner RF,
|
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Parrini E,
|
||
Powis Z,
|
||
Møller RS,
|
||
Bellan C,
|
||
Simonati A,
|
||
Lesca G,
|
||
Helbig KL,
|
||
Palmer EE,
|
||
Mei D,
|
||
Ballardini E,
|
||
Van Haeringen A,
|
||
Syrbe S,
|
||
Leuzzi V,
|
||
Cioni G,
|
||
Curry CJ,
|
||
Costain G,
|
||
Santucci M,
|
||
Chong K,
|
||
Mancini GMS,
|
||
Clayton-Smith J,
|
||
Bigoni S,
|
||
Scheffer IE,
|
||
Dobyns WB,
|
||
Vilsen B,
|
||
Guerrini R;
|
||
ATP1A2/A3-collaborators</span><br />
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<span class="medgenPMjournal">Brain</span>
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2021 Jun 22;144(5):1435-1450.
|
||
doi: 10.1093/brain/awab052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33880529" target="_blank">33880529</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33839563">Epilepsy in patients with familial hemiplegic migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hasırcı Bayır BR,
|
||
Tutkavul K,
|
||
Eser M,
|
||
Baykan B</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2021 May;88:87-94.
|
||
Epub 2021 Mar 31
|
||
doi: 10.1016/j.seizure.2021.03.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33839563" target="_blank">33839563</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,
|
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Gagliardi S,
|
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Cereda C,
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Costa A</span><br />
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<span class="medgenPMjournal">J Headache Pain</span>
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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,
|
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Ghanty I,
|
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Stewart K,
|
||
Gardiner S,
|
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Du J,
|
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Pérez-Palma E,
|
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Symonds JD,
|
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Collier AC,
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Lal D,
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Zuberi SM</span><br />
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<span class="medgenPMjournal">Hum Mutat</span>
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||
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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hemiplegic%20migraine%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 (55)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38547067">Brainstem depolarization-induced lethal apnea associated with gain-of-function SCN1A(L263V) is prevented by sodium channel blockade.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jansen NA,
|
||
Cestèle S,
|
||
Marco SS,
|
||
Schenke M,
|
||
Stewart K,
|
||
Patel J,
|
||
Tolner EA,
|
||
Brunklaus A,
|
||
Mantegazza M,
|
||
van den Maagdenberg AMJM</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2024 Apr 2;121(14):e2309000121.
|
||
Epub 2024 Mar 28
|
||
doi: 10.1073/pnas.2309000121.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38547067" target="_blank">38547067</a><a href="/pmc/articles/PMC10998578" target="_blank" class="PubMedFree">Free PMC Article</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/33880529">ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vetro A,
|
||
Nielsen HN,
|
||
Holm R,
|
||
Hevner RF,
|
||
Parrini E,
|
||
Powis Z,
|
||
Møller RS,
|
||
Bellan C,
|
||
Simonati A,
|
||
Lesca G,
|
||
Helbig KL,
|
||
Palmer EE,
|
||
Mei D,
|
||
Ballardini E,
|
||
Van Haeringen A,
|
||
Syrbe S,
|
||
Leuzzi V,
|
||
Cioni G,
|
||
Curry CJ,
|
||
Costain G,
|
||
Santucci M,
|
||
Chong K,
|
||
Mancini GMS,
|
||
Clayton-Smith J,
|
||
Bigoni S,
|
||
Scheffer IE,
|
||
Dobyns WB,
|
||
Vilsen B,
|
||
Guerrini R;
|
||
ATP1A2/A3-collaborators</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2021 Jun 22;144(5):1435-1450.
|
||
doi: 10.1093/brain/awab052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33880529" target="_blank">33880529</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/29478595">Genetics of migraine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anttila V,
|
||
Wessman M,
|
||
Kallela M,
|
||
Palotie A</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2018;148:493-503.
|
||
doi: 10.1016/B978-0-444-64076-5.00031-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29478595" target="_blank">29478595</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20hemiplegic%20migraine%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 (111)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0338484%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0338484%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0338484%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0338484%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
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</ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS141500" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Familial%20hemiplegic%20migraine" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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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>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22familial%20hemiplegic%20migraine%22%5Btiab%3A~0%5D)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Familial%20hemiplegic%20migraine%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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