Clinical and molecular diagnostic study of 320 Chinese children with epilepsy by Genome Sequencing
Dongfang Zou, Lin Wang, Jianxiang Liao, Hongdou Xiao, Jing Duan, Tongda Zhang, Jianbiao Li, Zhenzhen Yin, Jing Zhou, Haisheng Yan, Yushan Huang, Nianji Zhan, Ying Yang, Jingyu Ye, Fang Chen, , Jian Guo
This study evaluates genome sequencing in 320 Chinese children with epilepsy, finding pathogenic variants in 38.13% and demonstrating its diagnostic and therapeutic value.
Brain · Jun 17, 2021Peer-reviewedGenetic & Genomic Medicine