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Dysfunction of the CaV2.1 calcium channel in cerebellar ataxias

Authors
Journal
F1000 Biology Reports
1757-594X
Publisher
"Faculty of 1000, Ltd."
Publication Date
Identifiers
DOI: 10.3410/b2-4
Keywords
  • Review Article
Disciplines
  • Medicine

Abstract

Mutations in the CACNA1A gene are associated with episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). CACNA1A encodes the α-subunit of the P/Q-type calcium channel or CaV2.1, which is highly enriched in the cerebellum. It is one of the main channels linked to synaptic transmission throughout the human central nervous system. Here, we compare recent advances in the understanding of the genetic changes that underlie EA2 and SCA6 and what these new findings suggest about the mechanism of the disease.

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