临床神经外科杂志2025，Vol.22Issue(3)：348-351,4.DOI:10.3969/j.issn.1672-7770.2025.03.020
两例CHD2基因突变癫痫性脑病病例报道
CHD2 gene mutation patients with epileptic encephalopathy:report of 2 cases and literature review
摘要
Abstract
Objective To investigate the mechanism of developmental epileptic encephalopathy type 94 caused by CHD2 gene mutation.Methods Peripheral blood was drawn from patient and their parents,and whole-exon detection was performed to identify gene mutation sites and types.Results The patient 1 gene mutation site was c.5068C＞T(p.R1690X),which was a nonsense mutation.The patient 2 gene mutation site was c.3787delG(p.Vall263fsTer21),which was a frameshift mutation.Both are de novo mutation.The clinical manifestations of seizures were atonic seizures,absence seizures,atonic-myoclonic-absence seizures.Patients had moderate intellectual disability.Seizures could not be controlled by medication,and no significant changes in MRI.Conclusions This study reports two patients with developmental epileptic encephalopathy associated with a mutation in the CHD2 gene,and report that patients has gene mutations at a locus that increases the gene database.In addition,the mechanism of epilepsy caused by CHD2 gene is still unclear and needs further research.关键词
CHD2基因/发育性癫痫性脑病/基因突变Key words
CHD2 gene/epileptic encephalopathy/gene mutation分类
医药卫生引用本文复制引用
贺晶,张冰清,王海祥,史洁,周文静..两例CHD2基因突变癫痫性脑病病例报道[J].临床神经外科杂志,2025,22(3):348-351,4.基金项目
科技部"常见多发病防治研究"重点专项基金资助项目(2022YFC2503800) （2022YFC2503800）
