Cargando…

Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders

BACKGROUND: Epilepsy (EP) is a common neurological disease in which 70–80% are thought to have a genetic cause. In patients with epilepsy, neurodevelopmental delay (NDD) was prevalent. Next generation of sequencing has been widely used in diagnosing EP/NDD. However, the diagnostic yield remains to b...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Liping, Li, Xu‐Ying, Xu, Fanxi, Gao, Lehong, Wang, Zhanjun, Wang, Xianling, Li, Xian, Liu, Mengyu, Zhu, Junge, Yao, Tingyan, Ye, Jing, Qi, Xiao‐Hong, Wang, Yaqing, Zhao, Guoguang, Wang, Chaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655525/
https://www.ncbi.nlm.nih.gov/pubmed/37489029
http://dx.doi.org/10.1002/mgg3.2243