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  > 儿科  > 期刊论文
学科主题: 临床医学
题名:
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability
作者: Kong, Weijing1; Zhang, Yujia1; Gao, Yang2; Liu, Xiaoyan1; Gao, Kai1; Xie, Han1; Wang, Jingmin1; Wu, Ye1; Zhang, Yuehua1; Wu, Xiru1; Jiang, Yuwu1
关键词: SCN8A ; Epilepsy ; Intellectual disability ; Sodium channel blocker
刊名: EPILEPSIA
发表日期: 2015-03-01
DOI: 10.1111/epi.12925
卷: 56, 期:3, 页:431-438
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: SUDDEN UNEXPECTED DEATH ; GATED SODIUM-CHANNELS ; AXON INITIAL SEGMENT ; DE-NOVO MUTATIONS ; DRAVET SYNDROME ; SCN1A MUTATIONS ; MOUSE HEART ; ENCEPHALOPATHY ; NA(V)1.6 ; PATHOPHYSIOLOGY
英文摘要:

Objective: Mutations in SCN8A, a voltage-gated sodium-channel type VIII alpha subunit gene, have recently been recognized as one of the pathogenic mechanisms leading to epilepsy and intellectual/developmental disabilities (IDDs). The aim of this study was to detect SCN8A mutations in Chinese patients with epilepsy of unknown etiology and ID/DD.

Methods: We used targeted next-generation sequencing to identify SCN8A mutations in Chinese patients with epilepsy of unknown etiology and IDDs. A filter process was performed to prioritize rare variants of potential functional significance. Sanger sequencing confirmed the variants and determined the parental origin. We followed all patients with SCN8A mutations in our cohort and analyzed their clinical data.

Results: Five de novo SCN8A mutations were identified, including four novel mutations (p.Ala890Thr, p.Leu407Phe, p.Arg850Gln, and p.Ser1596Cys) and one reported (p.Arg1617Gln). Polyphen2 and SIFT software predicted that all five mutations probably damaged Nav1.6 protein function; Mutation Taster indicated that all mutations were disease-causing. Three of these five patients were controlled well by sodium channel blockers (SCBs). Two of these three patients remained seizure free for 6 and 1.5 months, respectively. One patient had sudden unexpected death in epilepsy (SUDEP) at the age of 1 year and 4 months.

Significance: Five SCN8A mutations were first reported in Chinese patients with epilepsy and ID/DD, expanding the phenotype and mutation spectrum of SCN8A mutations. Although three of these patients were controlled well by SCBs in our study, the effectiveness of SCBs should be validated in more patients with epilepsy caused by SCN8A mutations in the future. One of our five patients had sudden unexpected death in epilepsy SUDEP, suggesting that we should pay more attention to SUDEP in epileptic patients with SCN8A mutations.

语种: 英语
所属项目编号: 2012CB944602
项目资助者: National Key Research Project
WOS记录号: WOS:000351240300015
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/68113
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

Files in This Item:

There are no files associated with this item.


作者单位: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Dalian Med Univ, Hosp 2, Dept Neurosurg, Dalian, Peoples R China

Recommended Citation:
Kong, Weijing,Zhang, Yujia,Gao, Yang,et al. SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability[J]. EPILEPSIA,2015,56(3):431-438.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Kong, Weijing]'s Articles
[Zhang, Yujia]'s Articles
[Gao, Yang]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Kong, Weijing]‘s Articles
[Zhang, Yujia]‘s Articles
[Gao, Yang]‘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