Analysis of clinical phenotype and gene variation of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutation  

作　　者：胡文静 HU Wenjing(Dept Neurol,Hunan Children's Hosp,Changsha 410007)

机构地区：[1]Dept Neurol,Hunan Children's Hosp,Changsha 410007

出　　处：《China Medical Abstracts(Internal Medicine)》2023年第2期126-127,共2页中国医学文摘（内科学分册（英文版）

摘　　要：Objective To analyze the clinical phenotype and genotype characteristics of children with pyridoxinedependent epilepsy(PDE)and provide evidence for diagnosis.Methods Clinical data of 3 children with PDE enrolled in the Department of Neurology of Hunan Children's Hospital from July 2016 to December 2020 were collected.

关 键 词：EPILEPSY CLINICAL CLINICAL 

分 类 号：R742.1[医药卫生—神经病学与精神病学]