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学科主题: 临床医学
题名:
Generalized epilepsy with febrile seizures plus and classical idiopathic generalized epilepsy
作者: Zhang, Yue-Hua1; Scheffer, Ingrid2
刊名: NEUROLOGY ASIA
发表日期: 2010
卷: suppl.1, 页:3-4
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]: NEURONAL SODIUM-CHANNEL ; ABSENCE EPILEPSY ; MUTATIONS ; SCN1A ; FAMILIES
英文摘要:

The idiopathic generalized epilepsies (IGE) comprise two major groups: the classical IGE and generalized epilepsy with febrile seizures plus (GEFS+). The classical IGE syndromes include childhood absence epilepsy; juvenile absence epilepsy; juvenile myoclonic epilepsy; and epilepsy with generalized tonic-clonic seizures alone. GEFS+ is a familial epilepsy syndrome, characterized by a spectrum of phenotypes. The phenotypes of GEFS+ include febrile seizures (FS), febrile seizures plus (FS+), FS/ FS+ and absences, myoclonic, atonic or partial seizures, myoclonic-astatic epilepsy and severe myoclonic epilepsy of infancy. Our study of 121 individuals in 20 families, where 84 had previously recognized GEFS+ phenotypes, expands the phenotypic spectrum of GEFS+ syndrome to include afebrile generalized tonic-clonic seizures with generalized spike wave or normal EEG in the absence of FS. To date, there are three ion channel genes (SCN1A, SCN1B and GABRG2) confirmed as having a role in GEFS+, but none has been implicated in the majority of patients with GEFS+ phenotypes, such as those found in small families. Indeed it is likely that in most families, GEFS+ is a polygenic disorder resulting from the cumulative effect of a number of genes of lesser effect rather than the genes so far characterized in the few large families ascertained. Small GEFS+ families and bilineal inheritance in some add support for complex inheritance in a significant proportion of families. The phenotypes of classical IGE occur in some GEFS+ families. The percentage of classical IGE phenotypes is 9% (11/121) of affected individuals in our study. This suggests that classical IGE phenotypes and GEFS+ phenotypes overlap in some GEFS+ families. Our study provides new insights into the inter-relationship of GEFS+ and classical IGE, where shared genetic determinants probably account for the overlap of these syndromes in some families.

语种: 英语
WOS记录号: WOS:000281030100003
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55118
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.Peking Univ, Hosp 1, Dept Pediat, Beijing 100871, Peoples R China
2.Univ Melbourne, Austin Hlth, Epilepsy Res Ctr, Melbourne, Vic 3010, Australia

Recommended Citation:
Zhang, Yue-Hua,Scheffer, Ingrid. Generalized epilepsy with febrile seizures plus and classical idiopathic generalized epilepsy[J]. NEUROLOGY ASIA,2010,suppl.1:3-4.
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