title: Successful control with carbamazepine of family with paroxysmal kinesigenic dyskinesia of PRRT2 mutation.
abstract: Paroxysmal kinesigenic dyskinesia (PKD), a rare paroxysmal movement disorder often misdiagnosed as epilepsy, is characterized by recurrent, brief dyskinesia attacks triggered by sudden voluntary movement. Pathophysiological mechanism of PKD remains not well understood. Ion channelopathy has been suggested, since the disease responds well to ion channel blockers. Mutations in proline-rich transmembrane protein 2 (PRRT2) were recently identified in patients with familial PKD. To extend these genetic reports, we studied a family with clinical manifestations of familial PKD responding well to low dose carbamazepine. Therapeutic dose ranged from 1.5 to 2.0 mg/ kg/day, below that in seizure control. One insertion mutation c.649_650insC (p.P217fsX7) was identified in three patients of the family. This study aversPRRT2's high sensitivity for PKD phenotype. Identification of genes underlying pathogenesis will enhance diagnosis and treatment. Function ofPRRT2and its role in PKD warrant further investigation.
authors.affiliation: Department of Pediatrics, Children's Hospital, China Medical University Hospital, Taichung, Taiwan ; Graduate Institute of Integrated Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan.
authors.forename: I-Ching
authors.initials: IC
authors.lastname: Chou
authors.affiliation: Department of Pediatrics, Children's Hospital, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Sheng-Shing
authors.initials: SS
authors.lastname: Lin
authors.affiliation: Department of Medical Research, China Medical University and Hospital, Taichung, Taiwan ; School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan.
authors.forename: Wei-De
authors.initials: WD
authors.lastname: Lin
authors.affiliation: Department of Pediatrics, Children's Hospital, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Chung-Hsing
authors.initials: CH
authors.lastname: Wang
authors.affiliation: Department of Pediatrics, Children's Hospital, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Yu-Tzu
authors.initials: YT
authors.lastname: Chang
authors.affiliation: Department of Pediatrics, Children's Hospital, China Medical University Hospital, Taichung, Taiwan ; Department of Medical Research, China Medical University and Hospital, Taichung, Taiwan ; Department of Pediatrics, China Medical University Hospital, 2 Yuh-Der Road, Taichung 404, Taichung, Taiwan.
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.affiliation: Department of Pediatrics, Children's Hospital, China Medical University Hospital, Taichung, Taiwan ; Asia University, Taichung, Taiwan.
authors.forename: Chang-Hai
authors.initials: CH
authors.lastname: Tsai
keywords: Carbamazepin; Mutation; PRRT2; Paroxysmal dyskinesia