Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot

被引：51

作者：

Cao, Li

Huang, Xiao-Jun

Zheng, Lan

Xiao, Qin

Wang, Xi-Jin

Chen, Sheng-Di ^{[1
]}

机构：

[1] Shanghai Jiao Tong Univ, Dept Neurol, Rui Jin Hosp, Sch Med, Shanghai 200025, Peoples R China

来源：

PARKINSONISM & RELATED DISORDERS | 2012年 / 18卷 / 05期

关键词：

D O I：

10.1016/j.parkreldis.2012.02.006

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：704 / 706

页数：3

共 5 条

[1] Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia - New diagnostic criteria [J].

Bruno, MK ;

Hallett, M ;

Gwinn-Hardy, K ;

Sorensen, B ;

Considine, E ;

Tucker, S ;

Lynch, DR ;

Mathews, KD ;

Swoboda, KJ ;

Harris, J ;

Soong, BW ;

Ashizawa, T ;

Jankovic, J ;

Renner, D ;

Fu, YH ;

Ptacek, LJ .

NEUROLOGY, 2004, 63 (12) :2280-2287

[2] Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia [J].

Chen, Wan-Jin ;

Lin, Yu ;

Xiong, Zhi-Qi ;

Wei, Wei ;

Ni, Wang ;

Tan, Guo-He ;

Guo, Shun-Ling ;

He, Jin ;

Chen, Ya-Fang ;

Zhang, Qi-Jie ;

Li, Hong-Fu ;

Lin, Yi ;

Murong, Shen-Xing ;

Xu, Jianfeng ;

Wang, Ning ;

Wu, Zhi-Ying .

NATURE GENETICS, 2011, 43 (12) :1252-U116

[3]

Li J, 2011, J MED GENET 1130

[4] Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1 [J].

Tomita, H ;

Nagamitsu, S ;

Wakui, K ;

Fukushima, Y ;

Yamada, K ;

Sadamatsu, M ;

Masui, A ;

Konishi, T ;

Matsuishi, T ;

Aihara, M ;

Shimizu, K ;

Hashimoto, K ;

Mineta, M ;

Matsushima, M ;

Tsujita, T ;

Saito, M ;

Tanaka, H ;

Tsuji, S ;

Takagi, T ;

Nakamura, Y ;

Nanko, S ;

Kato, N ;

Nakane, Y ;

Niikawa, N .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (06) :1688-1697

[5] Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias [J].

Wang, Jun-Ling ;

Cao, Li ;

Li, Xun-Hua ;

Hu, Zheng-Mao ;

Li, Jia-Da ;

Zhang, Jian-Guo ;

Liang, Yu ;

San-A ;

Li, Nan ;

Chen, Su-Qin ;

Guo, Ji-Feng ;

Jiang, Hong ;

Shen, Lu ;

Zheng, Lan ;

Mao, Xiao ;

Yan, Wei-Qian ;

Zhou, Ying ;

Shi, Yu-Ting ;

Ai, San-Xi ;

Dai, Mei-Zhi ;

Zhang, Peng ;

Xia, Kun ;

Chen, Sheng-Di ;

Tang, Bei-Sha .

BRAIN, 2011, 134 :3490-3498

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