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

Batoul Sadat Haerian, Larry Baum, Hui Jan Tan, Patrick Kwan, Azman Ali Raymond, Junji Saruwatari, Kazuko Nakagawa, Zahurin Mohamed

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16 Citations (Scopus)

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. Original submitted 15 June 2012; Revision submitted 23 July 201.

Original languageEnglish
Pages (from-to)1477-1485
Number of pages9
JournalPharmacogenomics
Volume13
Issue number13
DOIs
Publication statusPublished - 1 Oct 2012
Externally publishedYes

Keywords

  • alternative splicing
  • epilepsy
  • meta-analysis
  • polymorphism
  • SCN1A
  • sodium valproate

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