Association of SCN1A Polymorphisms rs3812718 and rs2298771 with Epilepsy.

Autor: Katsarou MS; Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, 15771 Athens, Greece., Siatouni A; Epilepsy Unit, First Department of Neurosurgery, Evangelismos Hospital, School of Medicine, National and Kapodistrian University of Athens, 15771 Athens, Greece., Tsikrika D; Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, 15771 Athens, Greece., Kokkiou E; Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, 15771 Athens, Greece., Stefanatou M; Epilepsy Unit, First Department of Neurosurgery, Evangelismos Hospital, School of Medicine, National and Kapodistrian University of Athens, 15771 Athens, Greece., Verentzioti A; Epilepsy Unit, First Department of Neurosurgery, Evangelismos Hospital, School of Medicine, National and Kapodistrian University of Athens, 15771 Athens, Greece., Alexoudi A; Epilepsy Unit, First Department of Neurosurgery, Evangelismos Hospital, School of Medicine, National and Kapodistrian University of Athens, 15771 Athens, Greece., Gatzonis S; Epilepsy Unit, First Department of Neurosurgery, Evangelismos Hospital, School of Medicine, National and Kapodistrian University of Athens, 15771 Athens, Greece., Drakoulis N; Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, 15771 Athens, Greece., Papasavva M; Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, 15771 Athens, Greece.; Department of Pharmacy, School of Health Sciences, Frederick University, 1036 Nicosia, Cyprus.
Jazyk: angličtina
Zdroj: Genes [Genes (Basel)] 2024 Sep 19; Vol. 15 (9). Date of Electronic Publication: 2024 Sep 19.
DOI: 10.3390/genes15091224
Abstrakt: 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.
Databáze: MEDLINE
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