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学科主题: 临床医学
题名:
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients
作者: Xue, Jiao; Qian, Ping; Li, Hui; Wu, Ye; Liu, Xiaoyan; Yang, Zhixian
关键词: Pyridoxine-dependent epilepsy ; ALDH7A1 gene ; Antiquitin ; High prevalence mutation
刊名: EPILEPSY RESEARCH
发表日期: 2015-12-01
DOI: 10.1016/j.eplepsyres.2015.10.002
卷: 118, 页:1-4
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: RESPONSIVE SEIZURES ; ANTIQUITIN ALDH7A1 ; DEFICIENCY
英文摘要:

Purpose: Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by mutations of the ALDH7A1 gene. We aimed to analyze the relations between the clinical diagnosis and treatment of PDE and ALDH7A1 gene mutations in Chinese PDE patients.

Methods: The clinical manifestations, diagnosis and treatment were observed in a cohort of PDE patients with early onset of seizure. Video-electroencephalogram (VEEG) and magnetic resonance imaging (MFtl) were performed. The mutation of ALDH7A1 gene was analyzed.

Results: Of eight patients, six were males and two were females. Age of seizure onset ranged from 1 to 100 days and 75% patients presented with seizures in the neonatal period. All patients showed different degrees of developmental delay. EEGs showed focal or multifocal discharges, or were normal. Molecular analysis revealed 10 ALDH7A1 mutations, including 2 splice site mutations. Five patients had mutation at IVS11+1G>A site, six patients had missense mutations, one with nonsense mutation and another patient had 9-bp genomic deletion mutation. Among them, two mutations were first time reported.

Conclusions: Seizure onset was in neonatal or early infantile period in our PDE patients. Early recognition and diagnosis of the disease is necessary for early intervention and improve cognitive development in the later life. In this study, on the molecular level, we also identified the splice site mutation IVS11+1G>A as a high prevalence mutation site with a frequency of 31.25% (5 of 16 alleles) in Chinese PDE patients. (C) 2015 Elsevier B.V. All rights reserved.

语种: 英语
WOS记录号: WOS:000366767000001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55864
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: Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
Xue, Jiao,Qian, Ping,Li, Hui,et al. A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients[J]. EPILEPSY RESEARCH,2015,118:1-4.
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