APRRT2variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction withSTX1B

Epilepsia ◽  
2018 ◽  
Vol 59 (8) ◽  
pp. 1621-1630 ◽  
Author(s):  
Hongying Ma ◽  
Shenglei Feng ◽  
Xuejun Deng ◽  
Li Wang ◽  
Sheng Zeng ◽  
...  
Keyword(s):  
Chinese Family ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
Infantile Seizures

Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2

2006 ◽  
Vol 165 (10) ◽  
pp. 691-695 ◽  
Author(s):  
Xihui Zhou ◽  
Aiqun Ma ◽  
Xiaohong Liu ◽  
Chen Huang ◽  
Yanmin Zhang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Family ◽  
Infantile Seizures

Clinical and genetic study on a new Chinese family with benign familial infantile seizures

2005 ◽  
Vol 12 (5) ◽  
pp. 344-349 ◽  
Author(s):  
B. Xiao ◽  
F.-Y. Deng ◽  
G. Xiong ◽  
K. Wang ◽  
J. Zhang ◽  
...  
Keyword(s):  
Genetic Study ◽  
Chinese Family ◽  
Infantile Seizures

scholarly journals A novelPRRT2pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures

2017 ◽  
Vol 4 (1) ◽  
pp. a002287 ◽  
Author(s):  
Jacqueline G. Lu ◽  
Juliet Bishop ◽  
Sarah Cheyette ◽  
Igor B. Zhulin ◽  
Su Guo ◽  
...  
Keyword(s):  
Paroxysmal Kinesigenic Dyskinesia ◽  
Infantile Seizures

scholarly journals Novel loss-of-function PRRT2mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family

BMC Neurology ◽  
2014 ◽  
Vol 14 (1) ◽  
Author(s):  
Zhisong Ji ◽  
Quanxi Su ◽  
Lingling Hu ◽  
Qi Yang ◽  
Cuixian Liu ◽  
...  
Keyword(s):  
Han Chinese ◽  
Chinese Family ◽  
Loss Of Function ◽  
Paroxysmal Kinesigenic Dyskinesia

420 A novel SCN5A mutation (R878C) associated with sick sinus syndrome in one Chinese family

2006 ◽  
Vol 5 (1) ◽  
pp. 98-98
Author(s):  
Y ZHANG ◽  
A MA ◽  
H WAN ◽  
C HUANG ◽  
X ZHOU ◽  
...  
Keyword(s):  
Sick Sinus Syndrome ◽  
Chinese Family ◽  
Scn5a Mutation

Functional Movement Disorder in a Family with PRRT2-Associated Paroxysmal Kinesigenic Dyskinesia

2014 ◽  
Vol 45 (S 01) ◽  
Author(s):  
D. Ebrahimi-Fakhari ◽  
K. Kang ◽  
U. Kotzaeridou ◽  
S. Schubert-Bast ◽  
J. Kohlhase ◽  
...  
Keyword(s):  
Movement Disorder ◽  
Functional Movement ◽  
Paroxysmal Kinesigenic Dyskinesia

: Chinese Family and Society . Olga Lang.

1946 ◽  
Vol 15 (17) ◽  
pp. 271-271
Author(s):  
Nym Wales
Keyword(s):  
Chinese Family
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