Clinical characteristics and genetic researches of CHD2 myoclonus encephalopathy
10.3760/cma.j.issn.2095-428X.2016.24.002
- VernacularTitle:CHD2肌阵挛脑病的临床特征及基因研究进展
- Author:
Xue YANG
;
Shuizhen ZHOU
- Keywords:
Epileptic encephalopathy;
CHD2 gene;
Myoclonus encephalopathy
- From:
Chinese Journal of Applied Clinical Pediatrics
2016;31(24):1848-1850
- CountryChina
- Language:Chinese
-
Abstract:
In recent years,with the improvement of the genetic inspection techniques,some of the epileptic en-cephalopathy whose causes were unknown are associated with genetic factor.The result shows that one kind of epileptic encephalopathy may be associated with a variety of genetic mutations or copy number variation (CNV),one gene muta-tion or CNV also may lead to a lot of epileptic encephalopathy.In addition,the new clinical features and genetic poly-morphism were discovered increased.So that epileptic encephalopathy which named from the disease -causing gene was also increased.This article will summarize the clinical phenotype characteristics,genetic studies and future of the newly discovered CHD2 myoclonus encephalopathy.
