Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

ABSTRACT: 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 α_1A subunit of the P/Q-type voltage-gated calcium channel Ca_v2.1. The vast majority of EA2 disease-causing variants are loss-of-function (LoF) point changes leading to decreased channel currents. CACNA1A exonic deletions have also been reported in EA2 using quantitative approaches. We performed a mutational screening of the CACNA1A gene, including the promoter and 3'UTR regions, in 49 unrelated patients diagnosed with episodic ataxia. When pathogenic variants were not found by sequencing, we per

SUBMITTER: Sintas C 

PROVIDER: S-EPMC5451382 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature