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New calcium channel mutations predict aberrant RNA splicing in episodic ataxia

From the Department of Molecular Neurosciences, Institute of Neurology, University College London, London, UK.

Address correspondence and reprint requests to Dr. Michael G. Hanna, Department of Molecular Neurosciences, Institute of Neurology, Queen Square, London WC1N 3BG, UK; e-mail: m.hanna{at}ion.ucl.ac.uk

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 _1A 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.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the July 26 issue to find the link for this article.

Supported by the Epilepsy Research Foundation, The Brain Research Trust, The Guarantors of Brain and NIH via a CINCH fellowship.

Received December 30, 2004. Accepted in final form April 11, 2005.

This article has been cited by other articles:

				F. Riant, R. Mourtada, P. Saugier-Veber, and E. Tournier-Lasserve Large CACNA1A Deletion in a Family With Episodic Ataxia Type 2 Arch Neurol, June 1, 2008; 65(6): 817 - 820. [Abstract] [Full Text] [PDF]

				J.C. Jen, T.D. Graves, E.J. Hess, M.G. Hanna, R.C. Griggs, R.W. Baloh, and the CINCH investigators Primary episodic ataxias: diagnosis, pathogenesis and treatment Brain, October 1, 2007; 130(10): 2484 - 2493. [Abstract] [Full Text] [PDF]