典型文献
Clinical analysis of
CHD2 gene mutations in pediatric patients with epilepsy
文献摘要：
Importance::CHD2 is a member of the chromodomain helicase DNA-binding (CHD) family of proteins, which have important roles in the regulation of gene expression. Dysregulation of this protein may lead to various disorders.Objective::To delineate the genotypes and phenotypes of CHD2-related epilepsy.Methods::We analyzed the medical history, magnetic resonance imaging findings, and video-electroencephalogram recordings of 17 patients with
CHD2 mutations in the Neurology Department of Beijing Children’s Hospital from June 2016 to June 2021.
Results::Age at seizure onset ranged from 6 months to 10 years; the median age at onset was 4 years. Generalized tonic-clonic, myoclonic, eyelid myoclonic, atonic, atypical absence, myoclonic-atonic, and spasm seizures were observed. Ten of the 17 patients had multiple types of seizures. One patient exhibited photosensitivity epilepsy and one patient exhibited grid image-induced visual reflex epilepsy. Developmental disability was present in 14 patients, while autism features were present in five patients. Sixteen patients had
de novo mutations of
CHD2; one patient had an inherited variant. Eleven mutations were novel. One patient had two mutations; that patient exhibited development delay and refractory epilepsy. Seizures were controlled in eight patients, improved in seven patients, and resistant to treatment in two patients.
Interpretation::Phenotype severity in patients with
CHD2 variants ranged from drug-responsive seizures to severe epileptic encephalopathy. Most patients exhibited developmental disorders.
文献关键词：
CHD2;Epilepsy;Developmental disability;Phenotype;Seizure
中图分类号：
作者姓名：
Feng Weixing;Fang Fang;Wang Xiaohui;Chen Chunhong;Lu Junlan;Deng Jie
作者机构：
Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China
文献出处：
引用格式：
[1]Feng Weixing;Fang Fang;Wang Xiaohui;Chen Chunhong;Lu Junlan;Deng Jie-.Clinical analysis of
CHD2 gene mutations in pediatric patients with epilepsy
)[J].儿科学研究（英文）,2022(02):93-99
A类：
CHD2,epilepsy
,chromodomain,myoclonic,atonic,Seizures
B类：
Clinical,analysis,gene,mutations,pediatric,patients,Importance,member,helicase,binding,family,proteins,which,have,important,roles,expression,Dysregulation,this,may,lead,various,disorders,Objective,To,delineate,genotypes,phenotypes,related,Methods,We,analyzed,medical,history,magnetic,resonance,imaging,findings,video,electroencephalogram,recordings,Neurology,Department,Beijing,Children,Hospital,from,June,Results,Age,onset,ranged,months,years,median,was,Generalized,eyelid,atypical,absence,spasm,seizures,were,observed,Ten,had,multiple,One,exhibited,photosensitivity,one,grid,image,induced,visual,reflex,Developmental,disability,present,while,autism,features,five,Sixteen,novo,inherited,Eleven,novel,two,that,delay,refractory,controlled,eight,improved,seven,resistant,treatment,Interpretation,Phenotype,severity,variants,drug,responsive,severe,epileptic,encephalopathy,Most,developmental,Epilepsy
AB值：
0.502509
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