Article
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
Nature genetics - 1 Apr 2006
Waters Michael F, Minassian Natali A, Stevanin Giovanni, Figueroa Karla P, Bannister John P A, Nolte Dagmar, Mock Allan F, Evidente Virgilio Gerald H, Fee Dominic B, Müller Ulrich, Dürr Alexandra, Brice Alexis, Papazian Diane M, Pulst Stefan M
Abstract excerpt
Potassium channel mutations have been described in episodic neurological diseases. We report that K+ channel mutations cause disease phenotypes with neurodevelopmental and neurodegenerative features. In a Filipino adult-onset ataxia pedigree, the causative gene maps to 19q13, overlapping the SCA13 disease locus described in a French pedigree with childhood-onset ataxia and cognitive delay. This region contains...
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