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

OBJECTIVE: We determined the yield, genetic spectrum, and actual origin of de novo mutations (DNMs) for infantile spasms (ISs) in a Chinese cohort. The efficacy of levetiracetam (LEV) for STXBP1‐related ISs was explored also. METHODS: Targeted sequencing of 153 epilepsy‐related candidate genes was a...

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Detalles Bibliográficos
Autores principales: Liu, Liying, Liu, Fang, Wang, Qiuhong, Xie, Hua, Li, Zhengchang, Lu, Qian, Wang, Yangyang, Zhang, Mengna, Zhang, Yu, Picker, Jonathan, Cui, Xiaodai, Zou, Liping, Chen, Xiaoli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222834/
https://www.ncbi.nlm.nih.gov/pubmed/33951346
http://dx.doi.org/10.1002/mgg3.1689

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