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

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...

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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Blackwell Science Inc 2010
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Special Section Related Papers
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2901979/
https://ncbi.nlm.nih.gov/pubmed/20156848
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2009.186437
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