Novel Loss-of-Function Variants in <i>CHD2</i> Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients

Novel Loss-of-Function Variants in <i>CHD2</i> Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients

Developmental and epileptic encephalopathy-94 (DEE94) is a severe form of epilepsy characterized by a broad spectrum of neurodevelopmental disorders. It is caused by pathogenic <i>CHD2</i> variants. While only a few pathogenic <i>CHD2</i> variants have been reported with deta...

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Bibliographic Details
Main Authors: Xu Wang, Di Cui, Changhong Ding, Chunhong Chen, Xiaohui Wang, Fang Fang, Hong Jin, Xiaotun Ren
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Genes
Subjects:
epileptic encephalopathy (EE)
chromodomain-helicase-DNA-binding protein 2 (CHD2)
childhood-onset epileptic encephalopathy (DEE94)
seizure
developmental delay
intellectual disability (ID)
Online Access:https://www.mdpi.com/2073-4425/13/5/908

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https://www.mdpi.com/2073-4425/13/5/908

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