title: CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.
abstract: Mutations in the CACNA1A gene on chromosome 19 have been associated with a variety of clinical disorders, including familial hemiplegic migraine type 1 and episodic ataxia type 2 (EA2). We report a patient with 2 distinct attack types, one representing EA2 and the other, basilar-type migraine. Genetic testing revealed a novel nonsense mutation in the CACNA1A gene at codon position 583. Treatment with acetazolamide relieved both types of attacks. We hypothesize that the CACNA1A gene mutation may contribute to both typical EA2 and typical basilar-type migraine, extending the spectrum of clinical manifestations associated with CACNA1A mutations.
authors.affiliation: The Montefiore Headache Center, Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, 1575 Blondell Avenue, Suite 225, Bronx, NY 10461, USA.
authors.forename: Matthew S
authors.initials: MS
authors.lastname: Robbins
authors.forename: Richard B
authors.initials: RB
authors.lastname: Lipton
authors.forename: Emma C
authors.initials: EC
authors.lastname: Laureta
authors.forename: Brian M
authors.initials: BM
authors.lastname: Grosberg
mesh_terms: D000293:Adolescent; D015220:Calcium Channels / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics*; D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D020325:Migraine with Aura / Q000150:complications / Q000235:genetics*; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; D018389:Codon, Nonsense; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type