SCN1A IVS5N+5 polymorphism and response to sodium valproate

A multicenter study

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

Research output: Contribution to journalArticle

15 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 - Oct 2012

Fingerprint

Valproic Acid
Multicenter Studies
Anticonvulsants
Epilepsy
Hong Kong
Sample Size
Meta-Analysis
Cohort Studies
Genetic Models

Keywords

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

ASJC Scopus subject areas

  • Pharmacology
  • Genetics
  • Molecular Medicine

Cite this

SCN1A IVS5N+5 polymorphism and response to sodium valproate : A multicenter study. / Haerian, Batoul Sadat; Baum, Larry; Tan, Hui Jan; Kwan, Patrick; Ali, Raymond Azman; Saruwatari, Junji; Nakagawa, Kazuko; Mohamed, Zahurin.

In: Pharmacogenomics, Vol. 13, No. 13, 10.2012, p. 1477-1485.

Research output: Contribution to journalArticle

Haerian, BS, Baum, L, Tan, HJ, Kwan, P, Ali, RA, Saruwatari, J, Nakagawa, K & Mohamed, Z 2012, 'SCN1A IVS5N+5 polymorphism and response to sodium valproate: A multicenter study', Pharmacogenomics, vol. 13, no. 13, pp. 1477-1485. https://doi.org/10.2217/pgs.12.127
Haerian, Batoul Sadat ; Baum, Larry ; Tan, Hui Jan ; Kwan, Patrick ; Ali, Raymond Azman ; Saruwatari, Junji ; Nakagawa, Kazuko ; Mohamed, Zahurin. / SCN1A IVS5N+5 polymorphism and response to sodium valproate : A multicenter study. In: Pharmacogenomics. 2012 ; Vol. 13, No. 13. pp. 1477-1485.
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