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Updated: Aug 16, 2026

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
Published on: October 9, 2014
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia
Louise H Eunson1, Tracey D Graves, Michael G Hanna
1Department of Molecular Neurosciences, Institute of Neurology, University College London, London, UK.
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.
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