PMID- 26954261
OWN - NLM
STAT- MEDLINE
DCOM- 20170313
LR  - 20170313
IS  - 1563-5279 (Electronic)
IS  - 0020-7454 (Linking)
VI  - 127
IP  - 1
DP  - 2017 Jan
TI  - Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal 
      spikes in Chinese mainland population.
PG  - 10-13
AB  - 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.
FAU - Che, Xiang-Qian
AU  - Che XQ
AD  - a 1 The Department of Neurology, Xiangya Hospital , Central South University , 
      Changsha , Hunan , People's Republic of China.
FAU - Sun, Zhan-Fang
AU  - Sun ZF
AD  - a 1 The Department of Neurology, Xiangya Hospital , Central South University , 
      Changsha , Hunan , People's Republic of China.
FAU - Mao, Xiao
AU  - Mao X
AD  - a 1 The Department of Neurology, Xiangya Hospital , Central South University , 
      Changsha , Hunan , People's Republic of China.
FAU - Xia, Kun
AU  - Xia K
AD  - b 2 The Department of State Key Laboratory of Medical Genetics , Central South 
      University , Changsha , Hunan , People's Republic of China.
FAU - Yan, Xin-Xiang
AU  - Yan XX
AD  - a 1 The Department of Neurology, Xiangya Hospital , Central South University , 
      Changsha , Hunan , People's Republic of China.
AD  - b 2 The Department of State Key Laboratory of Medical Genetics , Central South 
      University , Changsha , Hunan , People's Republic of China.
AD  - c 3 The Department of Neurodegenerative Disorders Research Center , Central South 
      University , Changsha , Hunan , People's Republic of China.
FAU - Jiang, Hong
AU  - Jiang H
AD  - a 1 The Department of Neurology, Xiangya Hospital , Central South University , 
      Changsha , Hunan , People's Republic of China.
AD  - b 2 The Department of State Key Laboratory of Medical Genetics , Central South 
      University , Changsha , Hunan , People's Republic of China.
AD  - c 3 The Department of Neurodegenerative Disorders Research Center , Central South 
      University , Changsha , Hunan , People's Republic of China.
FAU - Shen, Lu
AU  - Shen L
AD  - a 1 The Department of Neurology, Xiangya Hospital , Central South University , 
      Changsha , Hunan , People's Republic of China.
AD  - b 2 The Department of State Key Laboratory of Medical Genetics , Central South 
      University , Changsha , Hunan , People's Republic of China.
AD  - c 3 The Department of Neurodegenerative Disorders Research Center , Central South 
      University , Changsha , Hunan , People's Republic of China.
FAU - Li, Nan
AU  - Li N
AD  - a 1 The Department of Neurology, Xiangya Hospital , Central South University , 
      Changsha , Hunan , People's Republic of China.
AD  - b 2 The Department of State Key Laboratory of Medical Genetics , Central South 
      University , Changsha , Hunan , People's Republic of China.
AD  - c 3 The Department of Neurodegenerative Disorders Research Center , Central South 
      University , Changsha , Hunan , People's Republic of China.
FAU - Tang, Bei-Sha
AU  - Tang BS
AD  - a 1 The Department of Neurology, Xiangya Hospital , Central South University , 
      Changsha , Hunan , People's Republic of China.
AD  - b 2 The Department of State Key Laboratory of Medical Genetics , Central South 
      University , Changsha , Hunan , People's Republic of China.
AD  - c 3 The Department of Neurodegenerative Disorders Research Center , Central South 
      University , Changsha , Hunan , People's Republic of China.
LA  - eng
PT  - Journal Article
DEP - 20160406
PL  - England
TA  - Int J Neurosci
JT  - The International journal of neuroscience
JID - 0270707
RN  - 0 (Membrane Proteins)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (PRRT2 protein, human)
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - China
MH  - Epilepsy, Rolandic/*genetics
MH  - Female
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Mutation
MH  - Nerve Tissue Proteins/*genetics
OTO - NOTNLM
OT  - Chinese mainland population
OT  - PRRT2 gene
OT  - benign epilepsy with centrotemporal spikes
OT  - mutation
EDAT- 2016/03/10 06:00
MHDA- 2017/03/14 06:00
CRDT- 2016/03/09 06:00
PHST- 2016/03/10 06:00 [pubmed]
PHST- 2017/03/14 06:00 [medline]
PHST- 2016/03/09 06:00 [entrez]
AID - 10.3109/00207454.2015.1136886 [doi]
PST - ppublish
SO  - Int J Neurosci. 2017 Jan;127(1):10-13. doi: 10.3109/00207454.2015.1136886. Epub 
      2016 Apr 6.