PRRT2 is associated with familial infantile convulsions with paroxysmal choreoathetosis (MIM #602066), episodic kinesigenic dyskinesia 1 (MIM #128200), and benign familial infantile seizures 2 (MIM #605751); and the penetrance of episodic kinesigenic dyskinesia 1 is estimated to be 60%–90% (van Vliet et al., 2012). The gene discussed is PRRT2; the disease is paroxysmal dyskinesia.