Nonsense mutations of SMC1A gene cause early onset epilepsy limited to females with cluster seizures: response to ketogenic diet add-on therapy-MedSci.cn

Nonsense mutations of SMC1A gene cause early onset epilepsy limited to females with cluster seizures: response to ketogenic diet add-on therapy

Hu, CH; Liu, DY; Xiao, K; Zhou, SZ; Wang, Y; Sun, D; Liu, ZS

Wang, Y (corresponding author), Fudan Univ, Childrens Hosp, Dept Neurol, Shanghai 201102, Peoples R China.; Sun, D (corresponding author), Huazhong Univ Sci & Technol, Wuhan Childrens Hosp, Tongji Med Coll, Dept Neurol, Wuhan 430016, Peoples R China.

Abstract

Background & Objective: Nonsense mutations in SMC1A have been reported only in females with cluster seizures, all of whom have been described as d......

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Nonsense mutations of SMC1A gene cause early onset epilepsy limited to females with cluster seizures: response to ketogenic diet add-on therapy

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