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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

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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.
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