Genetic Basis of Epilepsy in a Nigerian Population: Screening for SCN1A Gene Mutations in Ekiti State

Epilepsy affects approximately 50 million people globally and carries a significant genetic component in several of its forms. Dravet syndrome and other sodium channelopathies are caused by mutations in the SCN1A gene encoding the alpha-1 subunit of the voltage-gated sodium channel. While SCN1A mutations are well-characterised in European populations, their prevalence in Nigerian patients with early-onset epilepsy is unknown. This study screened for SCN1A mutations in paediatric epilepsy patients attending the Federal Teaching Hospital Ido-Ekiti, Ekiti State, South West Nigeria. Thirty children aged six months to ten years with treatment-resistant or early-onset epilepsy were enrolled alongside 30 healthy age-matched controls. Genomic DNA was extracted from blood samples, and targeted Sanger sequencing of selected SCN1A exons was performed. Two patients carried heterozygous SCN1A missense variants classified as likely pathogenic, consistent with the Dravet syndrome phenotype. The identification of SCN1A mutations with clinical relevance argues for molecular epilepsy diagnostics to be available in South West Nigerian tertiary hospitals for improved treatment tailoring. Keywords: epilepsy, SCN1A, Dravet syndrome, Ekiti State, paediatric genetics