title: Familial paroxysmal kinesigenic choreoathetosis. Report of a pharmacological trial in 2 cases.
abstract: 2 cases of familial paroxysmal kinesigenic choreoathetosis are described. The results of a pharmacological trial with phenobarbital, valproic acid, diazepam, iota-Dopa plus carbidopa, and haloperidol are reported. Phenobarbital is the only effective drug. On this basis the pathophysiological mechanisms of this rare disorder are briefly discussed.
mesh_terms: D000293:Adolescent; D001264:Athetosis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009068:Movement; D010634:Phenobarbital / Q000627:therapeutic use
chemical_list: D010634:Phenobarbital