山东医药Issue(23)：13-15,19,4.DOI:10.3969/j.issn.1002-266X.2014.23.004
早发性癫痫脑病男性患儿 ARX 基因突变及其临床特点
ARX gene mutation and clinical characteristics in male patients with early-onset epileptic encephalopathy
摘要
Abstract
Objective To explore the ARX gene mutation and clinical phenotypic characteristics in male patients with early-onset epileptic encephalopathy .Methods Detailed clinical information and the peripheral blood of 42 male children with early-onset epileptic encephalopathies and their parents were collected .Exon 2 of ARX gene mutation was screened u-sing PCR-DNA sequencing and multiple ligation-dependent probe amplification ( MLPA) , and the clinical phenotypic char-acteristics were also analyzed .Results Among 42 cases, large deletions of exon 2 for ARX gene can be detected in 3 ca-ses, and the overall mutation rate was 7.14%(3/42).One of the 3 patients was diagnosed as non-specific epileptic en-cephalopathies , the other two were diagnosed as infantile spasm;all 3 patients were attacked by intractable seizures occur-ring in the first six months of life .Two patients presented hypsarrhythmia in the EEG records .All 3 patients were resistant to multiple AEDs and presented severe psychomotor developmental delay or regression .Various seizure types were observed in 39 patients without large deletions of exon 2 for ARX;among them, 5 patients acquired nearly normal gross motor devel-opment, ACTH and ketogenic diet were effective for controlling seizures in 3 patients.Conclusions A part of children with early-onset epileptic encephalopathy have large deletion of exon 2 in ARX gene.Early-onset epileptic encephalopathy children with large deletion of exon 2 in ARX gene present intractable seizures during six months of life , partial seizures and spasms are the most common seizure types .Meanwhile , they are characterized by severe psychomotor developmental delay even regression .Few patients without deletions could acquire nearly normal developmental milestones and respond well to ACTH or ketogenic diet .关键词
早发性癫痫脑病/ARX基因/基因突变/表型Key words
early-onset epileptic encephalopathies/ARX gene/gene mutations/phenotype分类
医药卫生引用本文复制引用
赵滢,章清萍,张晓英,包新华,吴希如..早发性癫痫脑病男性患儿 ARX 基因突变及其临床特点[J].山东医药,2014,(23):13-15,19,4.基金项目
首都特色应用研究项目（ Z121107001012049）；北京大学“985工程”三期临床医院合作专项项目。 （）
