PRRT2 and episodic kinesigenic dyskinesia 1: PRRT2 (Proline-rich Transmembrane protein 2) mutations underlie three major phenotypes: Benign Familial Infantile Epilepsy, Paroxysmal Kinesigenic Dyskinesia with or without infantile convulsions, and Infantile Convulsions with Choreoathetosis.