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, M., Antonio, G., Amedeo, B., Pasquale, S., Rossana, T., Umberto, A., Francesca, B., Paolo, B., Roberto, C., Maria P., C., Francesca, C., Christine, D., Maurizio, E., Giallonardo, A.T., Alfonso, I., Angelo, L., Angela La, N., Roberto, M., Gian C., M., Roberta, P., et al.. - 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.
