Novel Loss-of-Function Variants in CHD2 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 CHD2 variants. While only a few pathogenic CHD2 variants have been reported with detailed clinical phenotypes, most of whic...

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Detalles Bibliográficos
Autores principales: Wang, Xu, Cui, Di, Ding, Changhong, Chen, Chunhong, Wang, Xiaohui, Fang, Fang, Jin, Hong, Ren, Xiaotun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140428/
https://www.ncbi.nlm.nih.gov/pubmed/35627293
http://dx.doi.org/10.3390/genes13050908

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140428/
https://www.ncbi.nlm.nih.gov/pubmed/35627293
http://dx.doi.org/10.3390/genes13050908

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