title: Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population.
abstract: Proline-rich transmembrane protein 2 gene (PRRT2) mutations are reported to cause common paroxysmal neurological disorders and show a remarkable pleiotropy. Benign epilepsy with centrotemporal spikes (BECTS) is considered to be the most common epilepsy syndrome in childhood. It is placed among the idiopathic localization related epilepsies. Recently, it was reported that a girl with a PRRT2 mutation c.649_650insC developed infantile focal epilepsy with bilateral spikes which resembled the rolandic spikes. Hereby we performed a comprehensive genetic mutation screening of PRRT2 gene in a cohort of 53 sporadic BECTS patients. None of the 53 sporadic BECTS patients and other 250 controls carried mutations including c.649_650insC in PRRT2. Our data indicated that the PRRT2 mutations might most likely not be associated with BECTS in Chinese mainland population.
authors.affiliation: a 1 The Department of Neurology, Xiangya Hospital , Central South University , Changsha , Hunan , People's Republic of China.
authors.forename: Xiang-Qian
authors.initials: XQ
authors.lastname: Che
authors.affiliation: a 1 The Department of Neurology, Xiangya Hospital , Central South University , Changsha , Hunan , People's Republic of China.
authors.forename: Zhan-Fang
authors.initials: ZF
authors.lastname: Sun
authors.affiliation: a 1 The Department of Neurology, Xiangya Hospital , Central South University , Changsha , Hunan , People's Republic of China.
authors.forename: Xiao
authors.initials: X
authors.lastname: Mao
authors.affiliation: b 2 The Department of State Key Laboratory of Medical Genetics , Central South University , Changsha , Hunan , People's Republic of China.
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.affiliation: a 1 The Department of Neurology, Xiangya Hospital , Central South University , Changsha , Hunan , People's Republic of China.|b 2 The Department of State Key Laboratory of Medical Genetics , Central South University , Changsha , Hunan , People's Republic of China.|c 3 The Department of Neurodegenerative Disorders Research Center , Central South University , Changsha , Hunan , People's Republic of China.
authors.forename: Xin-Xiang
authors.initials: XX
authors.lastname: Yan
authors.affiliation: a 1 The Department of Neurology, Xiangya Hospital , Central South University , Changsha , Hunan , People's Republic of China.|b 2 The Department of State Key Laboratory of Medical Genetics , Central South University , Changsha , Hunan , People's Republic of China.|c 3 The Department of Neurodegenerative Disorders Research Center , Central South University , Changsha , Hunan , People's Republic of China.
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.affiliation: a 1 The Department of Neurology, Xiangya Hospital , Central South University , Changsha , Hunan , People's Republic of China.|b 2 The Department of State Key Laboratory of Medical Genetics , Central South University , Changsha , Hunan , People's Republic of China.|c 3 The Department of Neurodegenerative Disorders Research Center , Central South University , Changsha , Hunan , People's Republic of China.
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
authors.affiliation: a 1 The Department of Neurology, Xiangya Hospital , Central South University , Changsha , Hunan , People's Republic of China.|b 2 The Department of State Key Laboratory of Medical Genetics , Central South University , Changsha , Hunan , People's Republic of China.|c 3 The Department of Neurodegenerative Disorders Research Center , Central South University , Changsha , Hunan , People's Republic of China.
authors.forename: Nan
authors.initials: N
authors.lastname: Li
authors.affiliation: a 1 The Department of Neurology, Xiangya Hospital , Central South University , Changsha , Hunan , People's Republic of China.|b 2 The Department of State Key Laboratory of Medical Genetics , Central South University , Changsha , Hunan , People's Republic of China.|c 3 The Department of Neurodegenerative Disorders Research Center , Central South University , Changsha , Hunan , People's Republic of China.
authors.forename: Bei-Sha
authors.initials: BS
authors.lastname: Tang
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002681:China; D019305:Epilepsy, Rolandic / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human
keywords: Chinese mainland population; PRRT2 gene; benign epilepsy with centrotemporal spikes; mutation