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SCN1A IVS5N+5 polymorphism and response to sodium valproate: A multicenter study (2012)_香港中文大学

香港中文大学 辅仁网/2017-06-27

SCN1A IVS5N+5 polymorphism and response to sodium valproate: A multicenter study
Publication in refereed journal


香港中文大学研究人员 ( 现职)
包立怡教授 (药剂学院)


全文


引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/8WOS source URL
Scopushttp://aims.cuhk.edu.hk/converis/portal/Publication/10Scopus source URL

其它资讯

摘要Aim: Approximately 30% of epilepsy patients do not response to antiepileptic drugs (AEDs). The functional SCN1A IVS5N+5 polymorphism may play a role in response to some AEDs. The purpose of this study was to examine this hypothesis in a cohort study of Malaysian and Hong Kong Chinese epilepsy patients on sodium valproate (VPA) monotherapy and in a meta-analysis. Patients & methods: The SCN1A IVS5N+5 polymorphism was genotyped in 5http://aims.cuhk.edu.hk/converis/portal/Publication/83 Malaysian (http://aims.cuhk.edu.hk/converis/portal/Publication/84%) and Hong Kong Chinese (16%) epilepsy patients receiving VPA monotherapy. The related association studies, including the current study, were meta-analyzed by using fixed- and random-effects models under various genetic models. Results: A total of 277 (47.5%) and 306 (52.5%) patients were VPA nonresponsive and responsive, respectively. Unlike Chinese and Indian patients, Malay nonresponsive patients with idiopathic generalized epilepsy showed significant association, probably caused by the small sample size. Conclusion: The cohort study and meta-analysis did not demonstrate an association between AED responsiveness and this polymorphism. Future studies with a larger sample size of Malays with idiopathic generalized epilepsy are suggested. Original submitted 15 June 2012; Revision submitted 23 July 201. ? 2012 Future Medicine Ltd.

着者Haerian B.S., Baum L., Tan H.J., Kwan P., Raymond A.A., Saruwatari J., Nakagawa K., Mohamed Z.
期刊名称Pharmacogenomics
出版年份2012
月份http://aims.cuhk.edu.hk/converis/portal/Publication/10
日期1
卷号13
期次13
出版社Ashley Publications Ltd.
出版地United Kingdom
页次1477 - 14http://aims.cuhk.edu.hk/converis/portal/Publication/85
国际标準期刊号1462-2416
电子国际标準期刊号1744-http://aims.cuhk.edu.hk/converis/portal/Publication/8042
语言英式英语

关键词alternative splicing, epilepsy, meta-analysis, polymorphism, SCN1A, sodium valproate

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