Clinical phenotype and genetic analysis of pyridoxine dependent epilepsy induced by aldehyde dehydrogenase 7 family member A1 gene mutation  

作　　者：MEI Daoqi 梅道启(Dept Neurol,Children’s Hosp,Zhengzhou Univ,Henan Children’s Hosp,Zhengzhou Children’s Hosp,Zhengzhou 450018)

机构地区：[1]Dept Neurol,Children’s Hosp,Zhengzhou Univ,Henan Children’s Hosp,Zhengzhou Children’s Hosp,Zhengzhou 450018

出　　处：《China Medical Abstracts(Internal Medicine)》2021年第2期124-125,共2页中国医学文摘（内科学分册（英文版）

摘　　要：Objective To investigate the clinical phenotypes,therapy and genetic features of aldehyde dehydrogenase 7family member A1 (ALDH7A1) gene mutations in five cases of pyridoxine dependent epilepsy (PDE) with diagnosis confirmed by next generation sequencing.

关 键 词：EPILEPSY diagnosis CLINICAL 

分 类 号：R742.1[医药卫生—神经病学与精神病学]