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. The gene discussed is PRRT2; the disease is benign familial infantile epilepsy.