A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy.

doi:10.1111/j.1528-1167.2011.03097.x

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Article

A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy.

Epilepsia - 1 May 2011

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

Abstract excerpt

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...

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PMID: 21561445
DOI: 10.1111/j.1528-1167.2011.03097.x

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