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Pharmacogenomics. 2012 Oct;13(13):1477-85. doi: 10.2217/pgs.12.127.

SCN1A IVS5N+5 polymorphism and response to sodium valproate: a multicenter study.

Author information

1
Pharmacogenomics Laboratory, Department of Pharmacology, University of Malaya, Kuala Lumpur, Malaysia. batoolsadat@yahoo.com

Abstract

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.

PMID:
23057548
DOI:
10.2217/pgs.12.127
[Indexed for MEDLINE]
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