Recently, mutations in PRRT2 (Chr 16p11.2) have been causally associated with both familial and sporadic cases of PKD, infantile convulsions and choreoathetosis (ICCA), benign familial infantile epilepsy (BFIE), paroxysmal exercise-induced dyskinesia (PED), and paroxysmal non-kinesigenic dyskinesia-like (PNKD-like) syndromes in Han Chinese, Japanese and Caucasians [3-11]. The gene discussed is PRRT2; the disease is infantile convulsions and choreoathetosis.