A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy
- Resource Type
- Authors
- Ida, Manna; Antonio, Gambardella; Amedeo, Bianchi; Pasquale, Striano; Rossana, Tozzi; Umberto, Aguglia; Francesca, Beccaria; Paolo, Benna; Roberto, Campostrini; Canevini, Maria P.; Francesca, Condino; Christine, Durisotti; Maurizio, Elia; Giallonardo, Anna Teresa; Alfonso, Iudice; Angelo, Labate; Angela La Neve; Roberto, Michelucci; Muscas, Gian C.; Roberta, Paravidino; Gaetano, Zaccara; Claudio, Zucca; Federico, Zara; Emilio, Perucca
- Source
- Subject
- Adult
Male
Genotype
European Continental Ancestry Group
Drug Resistance
Oxcarbazepine
Nerve Tissue Proteins
Epilepsies
Adult, Anticonvulsants
pharmacology/therapeutic use, Carbamazepine
analogs /&/ derivatives/pharmacology/therapeutic use, Drug Resistance, Epilepsies
Partial
drug therapy/genetics, European Continental Ancestry Group
genetics, Female, Genotype, Humans, Italy
ethnology, Male, Nerve Tissue Proteins
genetics, Pharmacogenetics, Polymorphism
Genetic, Sodium Channels
genetics
White People
Sodium Channels
pharmacology/therapeutic use
epilepsy
SCN1A
pharmacogenetics
antiepileptic drugs
association studies
drug therapy/genetics
Genetic
Humans
Polymorphism
ethnology
Polymorphism, Genetic
NAV1.1 Voltage-Gated Sodium Channel
Carbamazepine
Italy
Pharmacogenetics
scn1a
Anticonvulsants
Female
Epilepsies, Partial
analogs /&/ derivatives/pharmacology/therapeutic use
- Language
- English
A splice site variation (c.603-91GA 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.603-91GA 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.603-91GA 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.603-91GA genotype and dosages of carbamazepine or oxcarbazepine. These findings rule out a major role of the SCN1A polymorphism as a determinant of AED response.