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早发性癫痫脑病男性患儿 ARX 基因突变及其临床特点
其他题名ARX gene mutation and clinical characteristics in male patients with early-onset epileptic encephalopathy
赵滢; 章清萍; 张晓英; 包新华; 吴希如
关键词早发性癫痫脑病 Arx基因 基因突变 表型 Early-onset Epileptic Encephalopathies Arx Gene Gene Mutations Phenotype
刊名山东医药
2014
DOI10.3969/j.issn.1002-266X.2014.23.004
23页:13-15,19
收录类别中国科技核心期刊
文章类型Journal Article
摘要目的:探讨早发性癫痫脑病男性患儿ARX基因突变及其临床表型特点。方法收集42例男性早发性癫痫脑病患儿详细的临床资料,采集患儿及家长外周血,应用PCR、直接测序和多重连接依赖的探针扩增( MLPA)技术对ARX基因第二外显子进行突变分析。对患儿的临床表型特点进行分析。结果42例早发性癫痫脑病患儿中3例患儿存在ARX基因第二外显子大片段缺失,检出率为7.14%(3/42)。其中1例为非特异性癫痫脑病,2例为婴儿痉挛症。3例患儿均于出生后6个月内出现难以控制的癫痫发作,2例患儿在脑电监测中发现高度失律,3例患儿对多种抗癫痫手段反应差,且均表现为严重的智力运动发育落后或倒退。未检出缺失的39例患儿发作形式呈现更多样化的特点,其中5例患儿大运动发育基本正常,3例患儿对ACTH或生酮饮食手段控制癫痫有效。结论早发性癫痫脑病患儿中部分存在ARX基因第二外显子大片段缺失。具有ARX基因突变的早发性癫痫脑病患儿,其临床表现为6个月内出现难治性癫痫发作,以部分性发作及痉挛发作为主,同时有显著的智力运动发育落后、甚至倒退;少数未检出缺失的患儿的大运动发育可基本正常,对ACTH或生酮饮食反应良好。 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 .
语种中文
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文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/47244
专题北京大学第一临床医学院
北京大学第一临床医学院_儿科
作者单位北京大学第一医院,北京,100034
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赵滢,章清萍,张晓英,等. 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.
APA 赵滢,章清萍,张晓英,包新华,&吴希如.(2014).早发性癫痫脑病男性患儿 ARX 基因突变及其临床特点.山东医药(23),13-15,19.
MLA 赵滢,et al."早发性癫痫脑病男性患儿 ARX 基因突变及其临床特点".山东医药 .23(2014):13-15,19.
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