title: PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China.
abstract: OBJECTIVE
  Proline-rich transmembrane protein 2 (PRRT2) has recently been identified as a causative gene of paroxysmal kinesigenic dyskinesia (PKD). However, the frequencies of its mutations and their correlation with the clinical features of PKD remain largely unknown.
  
  
  METHODS
  Four exons of PRRT2 in 33 patients with PKD from Southwest China were screened by direct sequencing in this study.
  
  
  RESULTS
  The mean onset age of the patients was 12.50 ± 2.70 years. Sixteen patients (48.48%) had sensory aura before their attacks. In total, 66.67% of the patients were running when the attacks occurred. c.649_650insC (p.P217fsX7), the most commonly reported insertion mutation, was identified in nine patients (27.27%).
  
  
  CONCLUSIONS
  Other genes are involved in the development of PKD, but PRRT2 is a common causative gene for patients with PKD from Southwest China.
authors.affiliation: Department of Neurology, State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, SiChuan University, Chengdu, China.
authors.forename: Y P
authors.initials: YP
authors.lastname: Chen
authors.forename: W
authors.initials: W
authors.lastname: Song
authors.forename: J
authors.initials: J
authors.lastname: Yang
authors.forename: Z-Z
authors.initials: ZZ
authors.lastname: Zheng
authors.forename: R
authors.initials: R
authors.lastname: Huang
authors.forename: K
authors.initials: K
authors.lastname: Chen
authors.forename: B
authors.initials: B
authors.lastname: Zhao
authors.forename: X P
authors.initials: XP
authors.lastname: Chen
authors.forename: J-M
authors.initials: JM
authors.lastname: Burgunder
authors.forename: H-F
authors.initials: HF
authors.lastname: Shang
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002681:China; D002819:Chorea / Q000235:genetics*; D004252:DNA Mutational Analysis; D004421:Dystonia; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human
keywords: c.649_650insC; mutation; paroxysmal kinesigenic dyskinesia; proline-rich transmembrane protein 2