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- W3028979280 abstract "In recent years, with the improvement of the genetic inspection techniques, some of the epileptic encephalopathy 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 mutation or CNV also may lead to a lot of epileptic encephalopathy.In addition, the new clinical features and genetic polymorphism 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.Key words: Epileptic encephalopathy; CHD2 gene; Myoclonus encephalopathy" @default.
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- W3028979280 date "2016-12-20" @default.
- W3028979280 modified "2023-09-23" @default.
- W3028979280 title "Clinical characteristics and genetic researches of CHD2 myoclonus encephalopathy" @default.
- W3028979280 doi "https://doi.org/10.3760/cma.j.issn.2095-428x.2016.24.002" @default.
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