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

Autor: Emilio Perucca, Angelo Labate, Christine Durisotti, Roberta Paravidino, Roberto Campostrini, Gaetano Zaccara, Rossana Tozzi, Ida Manna, Paolo Benna, Umberto Aguglia, Antonio Gambardella, Amedeo Bianchi, Maria Paola Canevini, Roberto Michelucci, Claudio Zucca, Pasquale Striano, G.C. Muscas, Anna Teresa Giallonardo, Alfonso Iudice, Francesca Condino, Angela La Neve, Maurizio Elia, Federico Zara, Francesca Beccaria
Rok vydání: 2011
Předmět:
Zdroj: Epilepsia. 52:e40-e44
ISSN: 0013-9580
Popis: Summary 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.
Databáze: OpenAIRE