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 Zou Xiaoli Chen

Published 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.

Keyphrases

end stage renal disease
copy number
chronic kidney disease
ejection fraction
genome wide
newly diagnosed
peritoneal dialysis
prognostic factors
dna methylation