Phenotype and genotype of epilepsy patients related to CLCN4 variants  

作　　者：ZHANG Wenrong 张文荣(Dept Pediatr,Peking Univ 1st Hosp,Beijing 100034)

机构地区：[1]Dept Pediatr,Peking Univ 1st Hosp,Beijing 100034

出　　处：《China Medical Abstracts(Internal Medicine)》2024年第4期229-230,共2页中国医学文摘(内科学分册英文版)

摘　　要：Objective To summarize the clinical phenotypes and genetic variations of children with epilepsy related to CLCN4 gene mutations.Methods A retrospective analysis was conducted on 9 children with epilepsy who were diagnosed with CLCN4 gene mutations through wholeexome sequencing of family members.These children were treated at the Department of Pediatrics,Peking University First Hospital from December 2016 to March 2024.

关 键 词：EPILEPSY CLINICAL PATIENTS 

分 类 号：R74[医药卫生—神经病学与精神病学]