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Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

The Journal of physiology - 1 Jun 2010

Rajakulendran Sanjeev, Graves Tracey D, Labrum Robyn W, Kotzadimitriou Dimitrios, Eunson Louise, Davis Mary B, Davies Rosalyn, Wood Nicholas W, Kullmann Dimitri M, Hanna Michael G, Schorge Stephanie

Abstract excerpt

Mutations in CACNA1A, which encodes the principal subunit of the P/Q calcium channel, underlie episodic ataxia type 2 (EA2). In addition, some patients with episodic ataxia complicated by epilepsy have been shown to harbour CACNA1A mutations, raising the possibility that P/Q channel dysfunction may be linked to human epilepsy. We undertook a review of all published CACNA1A EA2 cases and this showed that 7% have...

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Ataxia
Calcium Channels
Electroencephalography
Electrophysiology
Epilepsy

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Mutation, Missense

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PMID: 20156848
DOI: 10.1113/jphysiol.2009.186437
PMCID: PMC2901979

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