Article
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.
Scientific reports - 31 May 2017
Sintas Cèlia, Carreño Oriel, Fernàndez-Castillo Noèlia, Corominas Roser, Vila-Pueyo Marta, Toma Claudio, Cuenca-León Ester, Barroeta Isabel, Roig Carles, Volpini Víctor, Macaya Alfons, Cormand Bru
Abstract excerpt
Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in the CACNA1A gene, encoding the α1A subunit of the P/Q-type voltage-gated calcium channel Cav2.1. The vast majority of EA2 disease-causing variants are loss-of-function...
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