Premium
A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy
Author(s) -
Manna Ida,
Gambardella Antonio,
Bianchi Amedeo,
Striano Pasquale,
Tozzi Rossana,
Aguglia Umberto,
Beccaria Francesca,
Benna Paolo,
Campostrini Roberto,
Canevini Maria P.,
Condino Francesca,
Durisotti Christine,
Elia Maurizio,
Giallonardo Anna T.,
Iudice Alfonso,
Labate Angelo,
La Neve Angela,
Michelucci Roberto,
Muscas Gian C.,
Paravidino Roberta,
Zaccara Gaetano,
Zucca Claudio,
Zara Federico,
Perucca Emilio
Publication year - 2011
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2011.03097.x
Subject(s) - oxcarbazepine , carbamazepine , phenytoin , epilepsy , medicine , pharmacogenetics , pharmacology , polymorphism (computer science) , antiepileptic drug , drug , genotype , levetiracetam , genetics , gene , biology , psychiatry
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.