A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy

Ida Manna, Antonio Gambardella, Amedeo Bianchi, Pasquale Striano, Rossana Tozzi, Umberto Aguglia, Francesca Beccaria, Paolo Benna, Roberto Campostrini, Maria P. Canevini, Francesca Condino, Christine Durisotti, Maurizio Elia, Anna T. Giallonardo, Alfonso Iudice, Angelo Labate, Angela La Neve, Roberto Michelucci, Gian C. Muscas, Roberta ParavidinoGaetano Zaccara, Claudio Zucca, Federico Zara, Emilio Perucca

Research output: Contribution to journalArticlepeer-review

Abstract

A splice site variation (c.603-91G>A or rs3812718) in the SCN1A gene has been claimed to influence efficacy and dose requirements of carbamazepine and phenytoin. We investigated the relationship between c.603-91G>A polymorphism and response to antiepileptic drugs (AEDs) in 482 patients with drug-resistant and 401 patients with drug-responsive focal epilepsy. Most commonly used AEDs were carbamazepine and oxcarbazepine. The distribution of c.603-91G>A genotypes was similar among drug-resistant and drug-responsive subjects, both in the entire population and in the groups treated with carbamazepine or oxcarbazepine. There was no association between the c.603-91G>A genotype and dosages of carbamazepine or oxcarbazepine. These findings rule out a major role of the SCN1A polymorphism as a determinant of AED response.

Original languageEnglish
JournalEpilepsia
Volume52
Issue number5
DOIs
Publication statusPublished - May 2011

Keywords

  • Antiepileptic drugs
  • Association studies
  • Epilepsy
  • Pharmacogenetics
  • SCN1A

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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