Compound heterozygous variants of the NARS2 gene in siblings with refractory seizures: two case report and literature review

Our findings expand the mutational spectrum of <i>NARS2</i> and highlight the associated phenotypic heterogeneity, underscoring the critical role of <i>NARS2</i> in epilepsy and neurodevelopmental processes. For pediatric patients with refractory epilepsy, early genetic testing is essential to improve diagnostic accuracy, refine prognostic stratification, and guide personalized treatment strategies. Additionally, mitochondrial drug cocktail therapy may be beneficial for epilepsy caused by NARS2 mutations.