A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy.
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| 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.
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| Authors | 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 Paravidino, Gaetano Zaccara, Claudio Zucca, Federico Zara, Emilio Perucca |
| Journal | Epilepsia (Epilepsia) Vol. 52 Issue 5 Pg. e40-4 (May 2011) ISSN: 1528-1167 [Electronic] United States |
| PMID | 21561445 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't) |
| Copyright | Wiley Periodicals, Inc. © 2011 International League Against Epilepsy. |
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