Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

Premature stop codons in CACNA1A, which encodes the α1A subunit of neuronal P/Q-type (CaV2.1) Ca2+ channels, cause episodic ataxia type 2 (EA2). CACNA1A undergoes extensive alternative splicing, which contributes to the pharmacological and kinetic heterogeneity of CaV2.1-mediated Ca2+ currents. We i...

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Bibliographic Details
Main Authors: Tracey D. Graves, Paola Imbrici, Esther E. Kors, Gisela M. Terwindt, Louise H. Eunson, Rune R. Frants, Joost Haan, Michel D. Ferrari, Peter J. Goadsby, Michael G. Hanna, Arn M.J.M. van den Maagdenberg, Dimitri M. Kullmann
Format: Article
Language:English
Published: Elsevier 2008-10-01
Series:Neurobiology of Disease
Subjects:
EA2
Ataxia
Cerebellum
Channelopathy
Ca2+ channel
Migraine
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996108001265

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http://www.sciencedirect.com/science/article/pii/S0969996108001265

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