New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
case_series · Level IV
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Abstract
Episodic ataxia type 2 (EA2) is an autosomal dominant channelopathy characterized by paroxysmal cerebellar ataxia. Previous studies suggest that most EA2 cases are associated with mutations in the alpha1A subunit of the P/Q-type voltage-gated calcium channel gene CACNA1A. In a UK national study, the authors analyzed 15 index cases with typical EA2 and identified two unreported intronic mutations that predict aberrant splicing.
Medical subject headings
- Alternative Splicing
- Calcium Channels
- Cerebellar Ataxia
- Mutation
- RNA