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学科主题: 临床医学
题名:
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus
作者: Sun, Huihui1; Zhang, Yuehua1; Liang, Jianmin2; Liu, Xiaoyan1; Ma, Xiuwei1; Wu, Husheng3; Xu, Keming4; Qin, Jiong1; Qi, Yu1; Wu, Xiru1
关键词: generalized epilepsy with febrile seizures plus (GEFS plus ) ; SCN1A ; SCN1B ; GABRG2 ; mutation ; Chinese
刊名: JOURNAL OF HUMAN GENETICS
发表日期: 2008-08-01
DOI: 10.1007/s10038-008-0306-y
卷: 53, 期:8, 页:769-774
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: SEVERE MYOCLONIC EPILEPSY ; CHILDHOOD ABSENCE EPILEPSY ; MISSENSE MUTATION ; SODIUM-CHANNEL ; INFANCY ; SPECTRUM ; SUBUNIT ; GEFS(+) ; GAMMA-2-SUBUNIT ; DYSFUNCTION
英文摘要:

Generalized epilepsy with febrile seizures plus (GEFS+; MIM#604233) is a familial epilepsy syndrome characterized by phenotypic and genetic heterogeneity. It was associated with mutations in the neuronal voltage-gated sodium channel subunit gene (SCN1A, SCN2A, SCN1B) and ligand-gated gamma aminobutyric acid receptors genes (GABRG2, GABRD). We investigated the roles of SCN1A, SCN1B, and GABRG2 mutations in the etiology of Chinese GEFS+ families. Genomic deoxyribonucleic acid (DNA) was extracted from peripheral blood lymphocytes of 23 probands and their family members. The sequences of SCN1A, SCN1B, and GABRG2 genes were analyzed by polymerase chain reaction (PCR) and direct sequencing. The major phenotypes of affected members in the 23 GEFS+ families exhibited FS and FS+, whereas rare phenotypes afebrile generalized tonic-clonic seizures (AGTCS), myoclonic-astatic epilepsy (MAE), and partial seizures were also observed. A novel SCN1A mutation, p.N935H, was identified in one family and another novel mutation in GABRG2, p.W390X, in another family. However, no SCN1B mutation was identified. The combined frequency of SCN1A, SCN1B, and GABRG2 mutations was 8.7% (2/23), extending the distribution of SCN1A and GABRG2 mutations to Chinese GEFS+ families. There were still unidentified genes contributing to the pathogenesis of GEFS+.

语种: 英语
WOS记录号: WOS:000258112900012
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60127
Appears in Collections:北京大学第一临床医学院_期刊论文

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作者单位: 1.Capital Inst Pediat, Beijing 100020, Peoples R China
2.Peking Univ, Hosp 1, Beijing 100034, Peoples R China
3.Jilin Univ, Hosp 1, Changchun 130021, Peoples R China
4.Beijing Childrens Hosp, Beijing 100045, Peoples R China

Recommended Citation:
Sun, Huihui,Zhang, Yuehua,Liang, Jianmin,et al. SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus[J]. JOURNAL OF HUMAN GENETICS,2008,53(8):769-774.
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