Referenced in: none

Automatically associated channels: Cav2.1

Title: New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.

Authors: Louise H Eunson, Tracey D Graves, Michael G Hanna

Journal, date & volume: Neurology, 2005 Jul 26 , 65, 308-10

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/16043807

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.