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

Wang, Xu; Cui, Di; Ding, Changhong; Chen, Chunhong; Wang, Xiaohui; Fang, Fang; Jin, Hong; Ren, Xiaotun

Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients.

Wang, Xu; Cui, Di; Ding, Changhong; Chen, Chunhong; Wang, Xiaohui; Fang, Fang; Jin, Hong; Ren, Xiaotun.

Afiliação

Wang X; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China.
Cui D; Running Gene Inc., Beijing, 100085, China.
Ding C; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China.
Chen C; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China.
Wang X; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China.
Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China.
Jin H; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China.
Ren X; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing 100045, China.

Genes (Basel) ; 13(5)2022 05 19.

Article em En | MEDLINE | ID: mdl-35627293

Assuntos

Proteínas de Ligação a DNA; Epilepsia; Povo Asiático/genética; Criança; China; Proteínas de Ligação a DNA/genética; Epilepsia/genética; Humanos; Fenótipo; Convulsões/genética

Palavras-chave

childhood-onset epileptic encephalopathy (DEE94); chromodomain-helicase-DNA-binding protein 2 (CHD2); developmental delay; epileptic encephalopathy (EE); intellectual disability (ID); seizure

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a DNA / Epilepsia Limite: Child / Humans País/Região como assunto: Asia Idioma: En Revista: Genes (Basel) Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China País de publicação: Suíça

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