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Article

Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects.

Epilepsy & behavior : E&B - 1 Sept 2024

Kurekci Fulya, Akif Kilic Mehmet, Akbas Sinan, Avci Rıdvan, Oney Ceyda, Dilruba Aslanger Ayca, Maras Genc Hulya, Aydinli Nur, Pembegul Yildiz Edibe

Abstract excerpt

BACKGROUND: Variants in sodium channel genes (SCN) are strongly associated with epilepsy phenotypes. Our aim in this study to evaluate the genotype and phenotype correlation of patients with SCN variants in our tertiary care center. METHODS: In this retrospective study, patients with SCN variants and epilepsy who were followed up at our clinic between 2018 and 2022 were evaluated. Our study discussed the...

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Source

Identifiers

PMID: 38964184
DOI: 10.1016/j.yebeh.2024.109930

Genes

SCN1A
SCN2A
SCN3A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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