1. Association of SCN1A Polymorphisms rs3812718 and rs2298771 with Epilepsy.
- Author
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Katsarou, Martha-Spyridoula, Siatouni, Anna, Tsikrika, Danae, Kokkiou, Elena, Stefanatou, Maria, Verentzioti, Anastasia, Alexoudi, Athanasia, Gatzonis, Stylianos, Drakoulis, Nikolaos, and Papasavva, Maria
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SEIZURES (Medicine) , *VOLTAGE-gated ion channels , *SINGLE nucleotide polymorphisms , *EPILEPSY , *ACTION potentials , *SODIUM channels - Abstract
Background/Objectives: Epilepsy is a brain disease with both environmental and genetic inputs. Ion channel dysfunction seems to be of great significance for abnormal neuronal behavior during epileptic seizures. Within neurons, the voltage-gated sodium channels are crucial proteins contributing to the initiation and propagation of action potentials. The voltage-gated sodium channel α subunit 1 (SCN1A) gene encodes for the α subunit of a voltage-gated ion channel. The aim of the study was to investigate the relation of two common SCN1A variants, i.e., rs3812718 and rs2298771, with distinct epileptic phenotypes in a South-Eastern European population. Methods: DNA was extracted from 214 unrelated participants with focal onset, focal to bilateral tonic–clonic, or generalized onset epileptic seizures and genotyped using real-time PCR (LightSNiP assays) followed by melting curve analysis. Statistical analysis of the results was performed using IBM SPSS Statistics software (version 29.0 for Windows). Results: Genotype frequency distribution analysis indicated an association for the A-allele-containing genotypes of both rs3812718 and rs2298771 polymorphisms of SCN1A with generalized onset seizures and focal to bilateral tonic–clonic seizures versus focal onset seizures. Conclusions: Consequently, the study provides evidence that supports a potential association of the investigated SCN1A polymorphisms with distinct seizure subtype susceptibility in South-Eastern Europeans. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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