Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort - Concepedia

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Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort

DOI Full Paper Access

11

Citations

44

References

2021

Year

Liying Liu, Fang Liu, Qiuhong Wang, Hua Xie, Zhengchang Li, Qian Lu, Yang‐Yang Wang, Mengna Zhang, Yu Zhang, Jonathan Picker,

Molecular Genetics & Genomic Medicine

Abstract

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.

References

	Year	Citations

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