Article
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.
Archives of neurology - 1 Apr 2003
Alonso Isabel, Barros José, Tuna Assunção, Coelho João, Sequeiros Jorge, Silveira Isabel, Coutinho Paula
Abstract excerpt
BACKGROUND: Different mutations in the alpha 1A-subunit of the brain P/Q-type calcium channel gene (CACNA1A) are responsible for familial hemiplegic migraine (FHM), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). Missense and splice site mutations have been found in FHM and episodic ataxia type 2, respectively, whereas a CAG repeat in the CACNA1A gene was found expanded in patients with SCA6....
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