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.
|Autori:||MANNA I; GAMBARDELLA A; BIANCHI A; STRIANO P; TOZZI R; AGUGLIA U; BECCARIA F; BENNA P; CAMPOSTRINI R; CANEVINI MP; CONDINO F; DURISOTTI C; ELIA M; GIALLONARDO AT; IUDICE A; LABATE A; LA NEVE A; MICHELUCCI R; MUSCAS GC; PARAVIDINO R; ZACCARA G; ZUCCA C; ZARA F; PERUCCA E|
|Titolo:||A FUNCTIONAL POLYMORPHISM IN THE SCN1A GENE DOES NOT INFLUENCE ANTIEPILEPTIC DRUG RESPONSIVENESS IN ITALIAN PATIENTS WITH FOCAL EPILEPSY|
|Anno del prodotto:||2011|
|Appare nelle tipologie:||1.1 Articolo in rivista|