Article
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2.
Neurobiology of disease - 1 Oct 2008
Graves Tracey D, Imbrici Paola, Kors Esther E, Terwindt Gisela M, Eunson Louise H, Frants Rune R, Haan Joost, Ferrari Michel D, Goadsby Peter J, Hanna Michael G, van den Maagdenberg Arn M J M, Kullmann Dimitri M
Abstract excerpt
Premature stop codons in CACNA1A, which encodes the alpha(1A) subunit of neuronal P/Q-type (Ca(V)2.1) Ca(2+) channels, cause episodic ataxia type 2 (EA2). CACNA1A undergoes extensive alternative splicing, which contributes to the pharmacological and kinetic heterogeneity of Ca(V)2.1-mediated Ca(2+) currents. We identified three novel heterozygous stop codon mutations associated with EA2 in an alternately spliced...
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