Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.
Liying LiuFang LiuQiuhong WangQian ChenZhengchang LiQian LuYangyang WangMengna ZhangYu ZhangJonathan PickerXiaodai CuiLi-Ping ZouXiaoli ChenPublished in: Molecular genetics & genomic medicine (2021)
Our study confirmed the contribution and genetic spectrum of DNMs in Chinese IS patients. Somatic mutation account for a quarter of DNMs in IS cases. Treatment with LEV improved the prognosis of STXBP1-related ISs.