Ontology highlight
ABSTRACT:
SUBMITTER: Figueroa KP
PROVIDER: S-EPMC2814913 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
Figueroa Karla P KP Minassian Natali A NA Stevanin Giovanni G Waters Michael M Garibyan Vartan V Forlani Sylvie S Strzelczyk Adam A Bürk Katrin K Brice Alexis A Dürr Alexandra A Papazian Diane M DM Pulst Stefan M SM
Human mutation 20100201 2
We recently identified KCNC3, encoding the Kv3.3 voltage-gated potassium channel, as the gene mutated in SCA13. One g.10684G>A (p.Arg420His) mutation caused late-onset ataxia resulting in a nonfunctional channel subunit with dominant-negative properties. A French early-onset pedigree with mild mental retardation segregated a g.10767T>C (p.Phe448Leu) mutation. This mutation changed the relative stability of the channel's open conformation. Coding exons were amplified and sequenced in 260 autosoma ...[more]