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A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients
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
2015-12-01
DOI10.1016/j.eplepsyres.2015.10.002
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
引用统计
被引频次:2[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/55864
专题北京大学第一临床医学院_儿科
作者单位Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
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.
APA Xue, Jiao,Qian, Ping,Li, Hui,Wu, Ye,Liu, Xiaoyan,&Yang, Zhixian.(2015).A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.EPILEPSY RESEARCH,118,1-4.
MLA Xue, Jiao,et al."A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients".EPILEPSY RESEARCH 118(2015):1-4.
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