A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family
A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family
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一种新的 SCN1A 错义突变导致中国家庭中全身性癫痫伴热性惊厥
DOI：
10.1016/j.neulet.2011.08.001
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发表时间：
2011-09-26
影响因子：
2.5
通讯作者：
Liu, Mugen
中科院分区：
文献类型：
--
作者：
Cui, Xiukun;Zeng, Feng;Liu, Mugen
全身性癫痫伴热性惊厥加重（GEFS（+））是一种常见的家族性癫痫综合征，一般发生于儿童期。GEFS（+）是由钠通道at-亚基（SCN 1A）突变引起的。本文报道了一个常染色体显性遗传GEFS（+）家系。该家系中受累的GEFS（+）患者表现出显著的家族间临床异质性。连锁分析将致病基因定位于染色体2 q24。SCN 1A的位置。此外。对SCN 1A的整个编码区进行DNA测序，发现了一个新的杂合核苷酸取代（c.577C > T），导致SCN 1A结构域D1的S3片段发生错义突变（p.L193F）。我们的结果扩大了SCN 1A突变的范围，并提供了SCN 1A突变与GEFS（+）临床变异之间的新见解。(C)2011爱思唯尔爱尔兰有限公司保留所有权利。
Generalized epilepsy with febrile seizures plus (GEFS(+)) is a common familial epilepsy syndrome, which generally develops in childhood. GEFS(+) is caused by mutations in the sodium-channel at-subunit (SCN1A). In this report, we investigated a Chinese family with an autosomal dominant form of GEFS(+). The affected GEFS(+) patients in this family displayed significant inter-family clinical heterogeneity. Linkage analysis localized the disease-causing gene to chromosome 2q24. where SCN1A is located. Furthermore. DNA sequencing of the whole coding region of SCN1A revealed a novel heterozygous nucleotide substitution (c.577C > T) causing a missense mutation (p.L193F) in the S3 segment of SCN1A domain D1. Our results expand the spectrum of SCN1A mutations and provide novel insights between the SCN1A mutations and the clinical variations of GEFS(+). (C) 2011 Elsevier Ireland Ltd. All rights reserved.