Ontology highlight
ABSTRACT:
SUBMITTER: Lee HY
PROVIDER: S-EPMC3334308 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Cell reports 20111215 1
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating mutations involving the gene PRRT2 in the vast majority (24/25) of well-characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. PRRT2 encodes a proline-rich transmembrane protein of unknown funct ...[more]