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

香港中文大學研究人員
替代計量分析
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其它資訊
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 583 Malaysian (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.
著者Haerian B.S., Baum L., Tan H.J., Kwan P., Raymond A.A., Saruwatari J., Nakagawa K., Mohamed Z.
期刊名稱Pharmacogenomics
出版年份2012
月份10
日期1
卷號13
期次13
出版社Ashley Publications Ltd.
出版地United Kingdom
頁次1477 - 1485
國際標準期刊號1462-2416
電子國際標準期刊號1744-8042
語言英式英語
關鍵詞alternative splicing, epilepsy, meta-analysis, polymorphism, SCN1A, sodium valproate

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