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Article

Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.

The Journal of physiology - 1 Apr 2012

Minassian Natali A, Lin Meng-Chin A, Papazian Diane M

Abstract excerpt

Mutations in Kv3.3 cause spinocerebellar ataxia type 13 (SCA13). Depending on the causative mutation, SCA13 is either a neurodevelopmental disorder that is evident in infancy or a progressive neurodegenerative disease that emerges during adulthood. Previous studies did not clarify the relationship between these distinct clinical phenotypes and the effects of SCA13 mutations on Kv3.3 function. The F448L mutation...

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Identifiers

PMID: 22289912
DOI: 10.1113/jphysiol.2012.228205
PMCID: PMC3413486

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Source receipt: pubmed, retrieved 7 Sept 2026.

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