Article
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
Epilepsy research - 1 Dec 2015
Xue Jiao, Qian Ping, Li Hui, Wu Ye, Liu Xiaoyan, Yang Zhixian
Abstract excerpt
PURPOSE: Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by mutations of the ALDH7A1 gene. We aimed to analyze the relations between the clinical diagnosis and treatment of PDE and ALDH7A1 gene mutations in Chinese PDE patients. METHODS: The clinical manifestations, diagnosis and treatment were observed in a cohort of PDE patients with early onset of seizure....
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