Access

Letter

Nature Genetics 38, 447–451 (1 April 2006) | doi:10.1038/ng1758

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

Michael F Waters , Natali A Minassian , Giovanni Stevanin , Karla P Figueroa , John P A Bannister , Dagmar Nolte , Allan F Mock , Virgilio Gerald H Evidente , Dominic B Fee , Ulrich M|[uuml]|ller , Alexandra D|[uuml]|rr , Alexis Brice , Diane M Papazian & Stefan M Pulst

Potassium channel mutations have been described in episodic neurological diseases. We report that K+ channel mutations cause disease phenotypes with neurodevelopmental and neurodegenerative features.