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.
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; Giallonardo, Anna Teresa; Alfonso, Iudice; Angelo, Labate; Angela La, Neve; Roberto, Michelucci; Gian C., Muscas; Roberta, Paravidino; Gaetano, Zaccara; Claudio, Zucca; Federico, Zara; Emilio, Perucca. - In: EPILEPSIA. - ISSN 0013-9580. - 52:5(2011), pp. e40-e44. [10.1111/j.1528-1167.2011.03097.x]
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy
GIALLONARDO, Anna Teresa;
2011
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
