title: A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy.
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.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Mangone - Cosenza, Italy.
authors.forename: Ida
authors.initials: I
authors.lastname: Manna
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.forename: Amedeo
authors.initials: A
authors.lastname: Bianchi
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Rossana
authors.initials: R
authors.lastname: Tozzi
authors.forename: Umberto
authors.initials: U
authors.lastname: Aguglia
authors.forename: Francesca
authors.initials: F
authors.lastname: Beccaria
authors.forename: Paolo
authors.initials: P
authors.lastname: Benna
authors.forename: Roberto
authors.initials: R
authors.lastname: Campostrini
authors.forename: Maria P
authors.initials: MP
authors.lastname: Canevini
authors.forename: Francesca
authors.initials: F
authors.lastname: Condino
authors.forename: Christine
authors.initials: C
authors.lastname: Durisotti
authors.forename: Maurizio
authors.initials: M
authors.lastname: Elia
authors.forename: Anna T
authors.initials: AT
authors.lastname: Giallonardo
authors.forename: Alfonso
authors.initials: A
authors.lastname: Iudice
authors.forename: Angelo
authors.initials: A
authors.lastname: Labate
authors.forename: Angela
authors.initials: A
authors.lastname: La Neve
authors.forename: Roberto
authors.initials: R
authors.lastname: Michelucci
authors.forename: Gian C
authors.initials: GC
authors.lastname: Muscas
authors.forename: Roberta
authors.initials: R
authors.lastname: Paravidino
authors.forename: Gaetano
authors.initials: G
authors.lastname: Zaccara
authors.forename: Claudio
authors.initials: C
authors.lastname: Zucca
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Emilio
authors.initials: E
authors.lastname: Perucca
mesh_terms: D000328:Adult; D000927:Anticonvulsants / Q000494:pharmacology / Q000627:therapeutic use*; D002220:Carbamazepine / Q000031:analogs & derivatives / Q000494:pharmacology / Q000627:therapeutic use; D004351:Drug Resistance; D004828:Epilepsies, Partial / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy / Q000208:ethnology; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D000078330:Oxcarbazepine; D010597:Pharmacogenetics; D011110:Polymorphism, Genetic; D015222:Sodium Channels / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D000927:Anticonvulsants; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels; D002220:Carbamazepine; D000078330:Oxcarbazepine