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Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
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
2009-05-01
DOI10.1016/j.braindev.2009.01.001
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
引用统计
被引频次:96[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/52126
专题北京大学第一临床医学院_儿科
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
推荐引用方式
GB/T 7714
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.
APA Scheffer, Ingrid E.,Zhang, Yue-Hua,Jansen, Floor E.,&Dibbens, Leanne.(2009).Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?.BRAIN & DEVELOPMENT,31(5),394-400.
MLA Scheffer, Ingrid E.,et al."Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?".BRAIN & DEVELOPMENT 31.5(2009):394-400.
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