ArticleTranslational pediatrics2026
Genetic spectrum and risk factor analysis for drug-resistant of early-onset epilepsy.
Article in Translational pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Early-onset epilepsy, particularly with neonatal onset, frequently has a genetic basis, though predictors of drug resistance remain poorly characterized. This study investigates clinical and genetic risk factors for drug-resistant epilepsy (DRE) in infants with unexplained seizures. Methods: In this retrospective cohort study, 75 infants admitted to a tertiary neonatal center (2018-2025) underwent next-generation sequencing (NGS) and were stratified into DRE (n=35) and non-refractory epilepsy (n=40) groups based on seizure control. Comparative analyses evaluated both clinical and genetic domains. The clinical evaluation covered dysmorphic features, motor tone, feeding, neuroelectrophysiology, neuroimaging, antiseizure medication (ASM) use, and neurodevelopment. Genetic profiles were also compared across the cohorts. Results: DRE patients showed significantly higher rates of abnormal muscle tone (68.6% Conclusions: Genetic etiology underlies most early-onset epilepsy cases. Abnormal muscle tone, epileptiform discharges on EEG, and definitive genetic diagnosis are risk factors for DRE, guiding early intervention.
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