Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesia

被引:9
作者
Bhatia, Kailash P. [1 ]
Schneider, Susanne A. [1 ,2 ]
机构
[1] UCL Inst Neurol, London WC1N 3BG, England
[2] Univ Lubeck, Dept Neurol, Lubeck, Germany
关键词
CHOREOATHETOSIS; MUTATIONS; DISORDERS;
D O I
10.1002/mds.25038
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:707 / 707
页数:1
相关论文
共 10 条
[1]  
Bhatia KP, 2000, MOVEMENT DISORD, V15, P429, DOI 10.1002/1531-8257(200005)15:3<429::AID-MDS1001>3.0.CO
[2]  
2-R
[3]   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
[4]   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
[5]   Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families [J].
Kikuchi, Taeko ;
Nomura, Masayo ;
Tomita, Hiroaki ;
Harada, Naoki ;
Kanai, Kazuaki ;
Konishi, Tohru ;
Yasuda, Ayako ;
Matsuura, Masato ;
Kato, Nobumasa ;
Yoshiura, Koh-ichiro ;
Niikawa, Norio .
JOURNAL OF HUMAN GENETICS, 2007, 52 (04) :334-341
[6]   Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions [J].
Lee, Hsien-Yang ;
Huang, Yong ;
Bruneau, Nadine ;
Roll, Patrice ;
Roberson, Elisha D. O. ;
Hermann, Mark ;
Quinn, Emily ;
Maas, James ;
Edwards, Robert ;
Ashizawa, Tetsuo ;
Baykan, Betul ;
Bhatia, Kailash ;
Bressman, Susan ;
Bruno, Michiko K. ;
Brunt, Ewout R. ;
Caraballo, Roberto ;
Echenne, Bernard ;
Fejerman, Natalio ;
Frucht, Steve ;
Gurnett, Christina A. ;
Hirsch, Edouard ;
Houlden, Henry ;
Jankovic, Joseph ;
Lee, Wei-Ling ;
Lynch, David R. ;
Mohammed, Shehla ;
Mueller, Ulrich ;
Nespeca, Mark P. ;
Renner, David ;
Rochette, Jacques ;
Rudolf, Gabrielle ;
Saiki, Shinji ;
Soong, Bing-Wen ;
Swoboda, Kathryn J. ;
Tucker, Sam ;
Wood, Nicholas ;
Hanna, Michael ;
Bowcock, Anne M. ;
Szepetowski, Pierre ;
Fu, Ying-Hui ;
Ptacek, Louis J. .
CELL REPORTS, 2012, 1 (01) :2-12
[7]   Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis [J].
Li, Jingyun ;
Zhu, Xilin ;
Wang, Xin ;
Sun, Wei ;
Feng, Bing ;
Du, Te ;
Sun, Bei ;
Niu, Fenghe ;
Wei, Hua ;
Wu, Xiaopan ;
Dong, Lei ;
Li, Liping ;
Cai, Xingqiu ;
Wang, Yuping ;
Liu, Ying .
JOURNAL OF MEDICAL GENETICS, 2012, 49 (02) :76-78
[8]   Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene [J].
Spacey, SD ;
Valente, EM ;
Wali, GM ;
Warner, TT ;
Jarman, PR ;
Schapira, AHV ;
Dixon, PH ;
Davis, MB ;
Bhatia, KP ;
Wood, NW .
MOVEMENT DISORDERS, 2002, 17 (04) :717-725
[9]   A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16 [J].
Valente, EM ;
Spacey, SD ;
Wali, GM ;
Bhatia, KP ;
Dixon, PH ;
Wood, NW ;
Davis, MB .
BRAIN, 2000, 123 :2040-2045
[10]   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