title: A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine.
authors.forename: I
authors.initials: I
authors.lastname: Alonso
authors.forename: J
authors.initials: J
authors.lastname: Barros
authors.forename: A
authors.initials: A
authors.lastname: Tuna
authors.forename: A
authors.initials: A
authors.lastname: Seixas
authors.forename: P
authors.initials: P
authors.lastname: Coutinho
authors.forename: J
authors.initials: J
authors.lastname: Sequeiros
authors.forename: I
authors.initials: I
authors.lastname: Silveira
mesh_terms: D000293:Adolescent; D000328:Adult; D001120:Arginine; D015220:Calcium Channels / Q000235:genetics* / Q000502:physiology*; D002524:Cerebellar Ataxia / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006429:Hemiplegia; D006801:Humans; D008297:Male; D008881:Migraine Disorders / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D020864:Calcium Channels, N-Type
chemical_list: D001120:Arginine; D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type