{"id":"https://openalex.org/W2049901352","doi":"https://doi.org/10.1046/j.1526-4610.2003.03062_9.x","title":"Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine.","display_name":"Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine.","publication_year":2003,"publication_date":"2003-02-26","ids":{"openalex":"https://openalex.org/W2049901352","doi":"https://doi.org/10.1046/j.1526-4610.2003.03062_9.x","mag":"2049901352"},"language":"en","primary_location":{"id":"doi:10.1046/j.1526-4610.2003.03062_9.x","doi":"https://doi.org/10.1046/j.1526-4610.2003.03062_9.x","is_oa":false,"landing_page_url":"https://doi.org/10.1046/j.1526-4610.2003.03062_9.x","pdf_url":null,"source":{"id":"https://openalex.org/S96331937","display_name":"Headache The Journal of Head and Face Pain","issn_l":"0017-8748","issn":["0017-8748","1526-4610"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Headache: The Journal of Head and Face Pain","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109469199","display_name":"Gisela M. Terwindt","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Terwindt","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111660922","display_name":"Esther E. Kors","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Kors","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043223759","display_name":"Jean Haan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Haan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017757783","display_name":"F Vermeulen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F Vermeulen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5097640057","display_name":"Van den Maagdenberg A","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Van den Maagdenberg A","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111903879","display_name":"Rune R. Frants","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R Frants","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5039941295","display_name":"Michel Dominique Ferrari","orcid":"https://orcid.org/0000-0001-9691-9449","observed_orcids":["https://orcid.org/0000-0001-9691-9449"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Ferrari","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4150,"currency":"USD","value_usd":4150},"apc_paid":null,"fwci":0.4194,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.6677369,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"43","issue":"3","first_page":"303","last_page":"303"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10498","display_name":"Migraine and Headache Studies","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10498","display_name":"Migraine and Headache Studies","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10493","display_name":"Ion channel regulation and function","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/sporadic-hemiplegic-migraine","display_name":"sporadic hemiplegic migraine","score":0.9990000128746033},{"id":"https://openalex.org/keywords/cacna1a-gene","display_name":"CACNA1A gene","score":0.9200000166893005},{"id":"https://openalex.org/keywords/calcium-channelopathy","display_name":"calcium channelopathy","score":0.7670000195503235},{"id":"https://openalex.org/keywords/cerebellar-ataxia","display_name":"cerebellar ataxia","score":0.847000002861023},{"id":"https://openalex.org/keywords/nystagmus","display_name":"nystagmus","score":0.9200000166893005},{"id":"https://openalex.org/keywords/cerebellar-atrophy","display_name":"cerebellar atrophy","score":0.8309999704360962},{"id":"https://openalex.org/keywords/migraine-with-aura","display_name":"migraine with aura","score":0.8330000042915344},{"id":"https://openalex.org/keywords/genetic-mutation-screening","display_name":"genetic mutation screening","score":0.5509999990463257}],"concepts":[{"id":"https://openalex.org/C2778042195","wikidata":"https://www.wikidata.org/wiki/Q3312899","display_name":"Familial hemiplegic migraine","level":5,"score":0.8175163269042969},{"id":"https://openalex.org/C2778541695","wikidata":"https://www.wikidata.org/wiki/Q133823","display_name":"Migraine","level":2,"score":0.664432942867279},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5967127084732056},{"id":"https://openalex.org/C2776497919","wikidata":"https://www.wikidata.org/wiki/Q739481","display_name":"Migraine with aura","level":4,"score":0.5578655004501343},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5487372279167175},{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.53557950258255},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.45440927147865295},{"id":"https://openalex.org/C85520022","wikidata":"https://www.wikidata.org/wiki/Q15322916","display_name":"Calcium channel","level":3,"score":0.425326406955719},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.39053577184677124},{"id":"https://openalex.org/C2777350023","wikidata":"https://www.wikidata.org/wiki/Q1154226","display_name":"Aura","level":3,"score":0.28518998622894287},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2803380787372589},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2590348422527313},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.25555843114852905},{"id":"https://openalex.org/C519063684","wikidata":"https://www.wikidata.org/wiki/Q706","display_name":"Calcium","level":2,"score":0.1322353184223175},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0930418074131012}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1046/j.1526-4610.2003.03062_9.x","doi":"https://doi.org/10.1046/j.1526-4610.2003.03062_9.x","is_oa":false,"landing_page_url":"https://doi.org/10.1046/j.1526-4610.2003.03062_9.x","pdf_url":null,"source":{"id":"https://openalex.org/S96331937","display_name":"Headache The Journal of Head and Face Pain","issn_l":"0017-8748","issn":["0017-8748","1526-4610"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Headache: The Journal of Head and Face Pain","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Good health and well-being","score":0.7900000214576721,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2320360611","https://openalex.org/W2025039948","https://openalex.org/W2003607733","https://openalex.org/W6983671224","https://openalex.org/W2323637940","https://openalex.org/W2107677258","https://openalex.org/W2126723287","https://openalex.org/W1808162448","https://openalex.org/W2072448332","https://openalex.org/W2169773244"],"abstract_inverted_index":{"Arch":[0],"Neurol":[1],".":[2],"2002":[3],"Jun;59(6):1016\u20101018":[4],"Background:":[5],"Familial":[6],"hemiplegic":[7,38,43,178,257,279,303],"migraine":[8,16,39,44,304],"is":[9,25,55],"a":[10,85,112,151,185,196,205,241,292],"rare":[11],"autosomal":[12],"dominant":[13],"subtype":[14],"of":[15,22,51,62,87,156,171,183,229,309],"with":[17,76,98,117,141,146,160,199,204,277],"aura":[18],"that":[19,41,168,263,285],"in":[20,29,69,80,136,164,174,274],"half":[21],"the":[23,30,49,52,60,63,81,137,161,165,169,177,181,264,302],"families":[24],"caused":[26],"by":[27,84],"mutations":[28,79,129,270],"CACNA1A":[31,53,64,82,152,186],"gene":[32,54,68,83],"on":[33,107,210],"chromosome":[34],"19p13.":[35],"In":[36,188],"sporadic":[37],"(SHM),":[40],"is,":[42],"without":[45,201],"affected":[46],"family":[47],"members,":[48],"contribution":[50],"unknown.":[56],"Objective:":[57],"To":[58],"investigate":[59],"involvement":[61],"calcium":[65,211,268,313],"channel":[66],"subunit":[67],"SHM.":[70,142],"Methods:":[71],"We":[72],"screened":[73],"27":[74],"patients":[75,140,145,276],"SHM":[77,99,118,147,200],"for":[78,301],"combination":[86],"single\u2010strand":[88],"conformational":[89],"polymorphism":[90],"analysis":[91],"and":[92,104,110,213,243,249,306],"sequence":[93],"analysis.":[94],"Results:":[95],"One":[96],"patient":[97,116,198],"also":[100],"had":[101,120],"ataxia,":[102],"nystagmus,":[103],"cerebellar":[105,122,172,202,238],"atrophy":[106],"computed":[108],"tomography":[109],"carried":[111,124],"T666M":[113],"mutation.":[114,127,153,187,206],"Another":[115],"who":[119],"no":[121],"signs":[123,203],"an":[125],"R583Q":[126],"No":[128],"or":[130],"interictal":[131],"neurological":[132],"abnormalities":[133],"were":[134],"found":[135,195,267,273],"remaining":[138],"25":[139],"Conclusions:":[143],"Most":[144],"do":[148],"not":[149,272,288,307],"have":[150,194],"The":[154,208],"results":[155],"this":[157,282],"study,":[158],"combined":[159],"findings":[162],"reported":[163],"literature,":[166],"show":[167],"presence":[170],"symptoms":[173],"addition":[175],"to":[176,190,226,237,240,246,250,255,312],"attacks":[179],"increases":[180],"chance":[182],"finding":[184],"addition,":[189],"our":[191],"knowledge,":[192],"we":[193],"first":[197],"Comment:":[207],"story":[209],"channelopathies":[212],"neurologic":[214,222],"disorders":[215,223],"becomes":[216],"ever":[217],"more":[218],"complex,":[219],"as":[220,252,254],"multiple":[221,299],"appear":[224],"linked":[225],"varying":[227],"forms":[228],"calcium\u2010channel":[230],"mutations.":[231],"Professor":[232],"Ferrari":[233],"has":[234],"described":[235],"links":[236],"disorders,":[239],"peculiar":[242],"severe":[244],"response":[245],"head":[247],"trauma,":[248],"epilepsy,":[251],"well":[253],"familial":[256],"migraine.":[258,280],"Now":[259],"his":[260],"group":[261],"finds":[262],"most":[265,275],"frequently":[266],"channelopathy":[269],"are":[271,297],"spontaneous":[278],"Does":[281],"just":[283],"mean":[284],"other":[286],"mutations,":[287],"yet":[289],"described,":[290],"cause":[291],"common":[293],"phenotypic":[294],"expression?":[295],"Or":[296],"there":[298],"causes":[300],"syndrome,":[305],"all":[308],"them":[310],"due":[311],"channelopathies?":[314],"SJT":[315]},"counts_by_year":[{"year":2014,"cited_by_count":1}],"updated_date":"2026-10-17T09:40:24.721904","created_date":"2016-06-24T00:00:00"}