title: Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a Southern Chinese Han population.
abstract: This study sought to analyze the genotype and gene mutations of human seizure-related gene 6 in 98 patients with idiopathic generalized epilepsy (non-febrile seizures), who were selected from three generations of the Chinese Han population living in Shanghai, Zhejiang Province, Wuxi of Jiangsu Province, and Jiangxi Province of Southern China. Twenty-six patients' parents were available as a first-degree relatives group and 100 biologically unrelated healthy controls were collected as the control group. Based on the age of onset and seizure type, the patients were divided into six subgroups. Polymerase chain reaction and DNA direct sequencing analysis showed that the most frequent mutations c.1249dupC (p.Gly418Argfx31) and c.1636A > G (p.Thr546Ala) were detected in some idiopathic generalized epilepsy patients and their asymptomatic first-degree relatives (30.6% vs. 19.2% and 11.2% vs. 26.9%). A novel mutation c.1807G > A (p.Val603Met) was found in a patient with late-onset idiopathic generalized epilepsy. There was no significant difference in the incidence of these three mutations among the different subgroups of idiopathic generalized epilepsy and controls. Thus, further analysis of a larger population is needed to confirm the assumption that human seizure-related gene 6 is a susceptibility gene for idiopathic generalized epilepsy with various sub-syndromes.
authors.affiliation: Department of Neurology, Changhai Hospital, Second Military Medical University of Chinese PLA, Shanghai 200433, China.
authors.forename: Jianming
authors.initials: J
authors.lastname: Jiang
authors.affiliation: Department of Biochemistry & Genetics, the National Education Base for Basic Medical Sciences, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou 310058, Zhejiang Province, China.
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Chen
authors.affiliation: Department of Biochemistry & Genetics, the National Education Base for Basic Medical Sciences, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou 310058, Zhejiang Province, China.
authors.forename: Wenting
authors.initials: W
authors.lastname: Liu
authors.affiliation: Department of Biochemistry & Genetics, the National Education Base for Basic Medical Sciences, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou 310058, Zhejiang Province, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Neurology, Changhai Hospital, Second Military Medical University of Chinese PLA, Shanghai 200433, China.
authors.forename: Yangtai
authors.initials: Y
authors.lastname: Guan
authors.affiliation: Department of Neurology, Changhai Hospital, Second Military Medical University of Chinese PLA, Shanghai 200433, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Han
authors.affiliation: Department of Neurology, Changhai Hospital, Second Military Medical University of Chinese PLA, Shanghai 200433, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Wang
authors.affiliation: Department of Biochemistry & Genetics, the National Education Base for Basic Medical Sciences, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou 310058, Zhejiang Province, China.
authors.forename: Jiajun
authors.initials: J
authors.lastname: Lu
authors.affiliation: Department of Neurology, Changhai Hospital, Second Military Medical University of Chinese PLA, Shanghai 200433, China.
authors.forename: Zhiliang
authors.initials: Z
authors.lastname: Yu
authors.affiliation: Department of Biochemistry & Genetics, the National Education Base for Basic Medical Sciences, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou 310058, Zhejiang Province, China.
authors.forename: Zhenfang
authors.initials: Z
authors.lastname: Du
authors.affiliation: Department of Biochemistry & Genetics, the National Education Base for Basic Medical Sciences, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou 310058, Zhejiang Province, China.
authors.forename: Xianning
authors.initials: X
authors.lastname: Zhang
keywords: generalized epilepsy; genetic; human seizure-related gene 6; mutation; neural regeneration; non-febrile seizure; polymorphism