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Angelopoulou C, Veletza S, Heliopoulos I, et al. Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece. Arch Med Sci. 2016;13(1):138-147doi: 10.5114/aoms.2016.59737.
Angelopoulou, C., Veletza, S., Heliopoulos, I., Vadikolias, K., Tripsianis, G., Stathi, C., & Piperidou, C. (2017). Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece. Archives of medical science : AMS, 13(1), 138-147. https://doi.org/10.5114/aoms.2016.59737
Angelopoulou, Christina, et al. "Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece." Archives of medical science : AMS vol. 13,1 (2017): 138-147. doi: https://doi.org/10.5114/aoms.2016.59737
Angelopoulou C, Veletza S, Heliopoulos I, Vadikolias K, Tripsianis G, Stathi C, Piperidou C. Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece. Arch Med Sci. 2017 Feb 01;13(1):138-147. doi: 10.5114/aoms.2016.59737. Epub 2016 May 05. PMID: 28144265; PMCID: PMC5206360.
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Arch Med Sci. 2017 Feb 01;13(1):138-147. doi: 10.5114/aoms.2016.59737. Epub 2016 May 05.

Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece.

Archives of medical science : AMS

Christina Angelopoulou, Stavroula Veletza, Ioannis Heliopoulos, Konstantinos Vadikolias, Grigorios Tripsianis, Chrysa Stathi, Charitomeni Piperidou

Affiliations

  1. Department of Neurology, Democritus University of Thrace, Alexandroupolis, Greece.

PMID: 28144265 PMCID: PMC5206360 DOI: 10.5114/aoms.2016.59737

Abstract

INTRODUCTION: The aim was to examine the influence of the SCN1A gene polymorphism IVS5-91 rs3812718 G>A on the response to antiepileptic drugs (AEDs) in monotherapy or polytherapy.

MATERIAL AND METHODS: Two hundred epilepsy patients and 200 healthy subjects were genotyped for SCN1A IVS5-91 rs3812718 G>A polymorphism using TaqMan assay. Patients were divided into drug-responsive and drug-resistant patients. The drug-responsive group was further studied, comparing monotherapy in maximum and minimum doses and monotherapy-responsive and -resistant groups.

RESULTS: There were no statistically significant differences in the allelic frequencies and genotype distributions between patients and controls (

CONCLUSIONS: Overall, our findings demonstrate an association of SCN1A IVS5-91 rs3812718 G>A polymorphism with AED responsiveness in monotherapy without evidence of an effect on drug-resistant epilepsy.

Keywords: SCN1A; antiepileptic drugs; gene polymorphism; resistant epilepsy; responsiveness

Conflict of interest statement

The authors declare no conflict of interest.

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