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:
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
作者: Scheffer, Ingrid E.1,2; Zhang, Yue-Hua3; Jansen, Floor E.4; Dibbens, Leanne5,6
关键词: Dravet syndrome ; SMEI ; GEFS ; Febrile seizures ; SCN1A ; SCN1B ; GABRG2
刊名: BRAIN & DEVELOPMENT
发表日期: 2009-05-01
DOI: 10.1016/j.braindev.2009.01.001
卷: 31, 期:5, 页:394-400
收录类别: SCI ; ISTP
文章类型: Proceedings Paper
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: SEVERE MYOCLONIC EPILEPSY ; REDUCED SODIUM CURRENT ; TONIC-CLONIC SEIZURES ; ALPHA-1 SUBUNIT GENE ; DE-NOVO MUTATIONS ; SCN1A MUTATIONS ; MISSENSE MUTATIONS ; ABSENCE EPILEPSY ; INFANCY SMEI ; CHANNEL
英文摘要:

Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) can both arise due 10 mutations of SCN1A. the gene encoding the alpha 1 pore-forming subunit of the sodium channel. GEFS+ refers to a familial epilepsy syndrome where at least two family members have phenotypes that fit within the GEFS+ spectrum. The GEFS+ spectrum comprises a range of mild to severe phenotypes varying from classical febrile seizures to Dravet syndrome. Dravet syndrome is a severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome. More than 70%,, of patients with Dravet syndrome have mutations of SCN1A these include both truncation and missense mutations. In contrast, only 10% of GEFS+ families have SCN1A mutations and these comprise missense mutations. GEFS+ has also been associated with mutations Of genes encoding the sodium channel beta I subunit. SCN1B. and the GABA(A) receptor gamma 2 subunit. GABRG2. The phenotypic heterogeneity that is characteristic of GEFS+ families is likely to be clue to modifier genes. Interpretation of the significance of a. SCN1A missense mutation requires a thorough understanding of the phenotypes in the GEFS+ spectrum whereas a de novo truncation mutation is likely to be associated with a severe phenotype. Early recognition of Dravet syndrome is important as aggressive control of seizures may improve developmental outcome. (C) 2009 Elsevier B.V. All rights reserved.

语种: 英语
WOS记录号: WOS:000265733500012
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52126
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.Univ Melbourne, Dept Med, Heidelberg, Vic 3081, Australia
2.Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia
3.Peking Univ, Hosp 1, Dept Paediat, Beijing 100871, Peoples R China
4.Univ Med Ctr, Rudolf Magnus Inst Neurosci, Dept Paediat Neurol, Utrecht, Netherlands
5.Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA, Australia
6.Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA 5005, Australia

Recommended Citation:
Scheffer, Ingrid E.,Zhang, Yue-Hua,Jansen, Floor E.,et al. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?[J]. BRAIN & DEVELOPMENT,2009,31(5):394-400.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Scheffer, Ingrid E.]'s Articles
[Zhang, Yue-Hua]'s Articles
[Jansen, Floor E.]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Scheffer, Ingrid E.]‘s Articles
[Zhang, Yue-Hua]‘s Articles
[Jansen, Floor E.]‘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