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Association of SCN1A Polymorphisms rs3812718 and rs2298771 with Epilepsy.

Genes - 19 Sept 2024

Katsarou Martha-Spyridoula, Siatouni Anna, Tsikrika Danae, Kokkiou Elena, Stefanatou Maria, Verentzioti Anastasia, Alexoudi Athanasia, Gatzonis Stylianos, Drakoulis Nikolaos, Papasavva Maria

Abstract excerpt

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...

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Adolescent
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Genetic Association Studies

NAV1.1 Voltage-Gated Sodium Channel

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PMID: 39336815
DOI: 10.3390/genes15091224
PMCID: PMC11431656

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Association of SCN1A Polymorphisms rs3812718 and rs2298771 with Epilepsy.PMID 39336815Read ↗

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