北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 期刊论文
学科主题: 临床医学
题名:
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
作者: 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
发表日期: 2014
DOI: 10.3969/j.issn.1002-266X.2014.23.004
期: 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
原文出处: 查看原文
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/47244
Appears in Collections:北京大学第一临床医学院_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 北京大学第一医院,北京,100034

Recommended Citation:
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.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[赵滢]'s Articles
[章清萍]'s Articles
[张晓英]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[赵滢]‘s Articles
[章清萍]‘s Articles
[张晓英]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace