A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation

por You, Cuiping, Xu, Na, Qiu, Shiyan, Li, Yufen, Xu, Liyun, Li, Xia, Yang, Li
Publicado 2020

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

por Zhang, Xin, Qiu, Shiyan, Yang, Li, Li, Yufen, Xu, Liyun, Xu, Na, Mi, Changrui, Li, Menglin
Publicado 2023

Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy

por Yang, Li, You, Cuiping, Qiu, Shiyan, Yang, Xiaofan, Li, Yufen, Liu, Feng, Zhang, Dongqing, Niu, Yue, Xu, Liyun, Xu, Na, Li, Xia, Luo, Fang, Yang, Junli, Li, Baomin
Publicado 2020