ArticleTranslational pediatrics2026
Genetic spectrum of unexplained neonatal seizures: a single-center study.
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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13 authors.
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Abstract
Background: Up to 40% of neonatal seizures remain unexplained after standard evaluation, creating a diagnostic imperative. Distinguishing genetic etiologies is critical, as it enables the identification of treatable conditions and informs prognosis and family counseling. In this study, we aimed to define the genetic spectrum of unexplained neonatal seizures in a Chinese cohort. Methods: In this single-center retrospective case series, we enrolled 40 neonates [2016-2024] admitted to the neonatal intensive care unit with video electroencephalography (vEEG)-confirmed seizures that were "unexplained" after a comprehensive evaluation including neuroimaging and metabolic screening. Exclusion criteria included identified causes such as hypoxic-ischemic encephalopathy or confirmed metabolic disorders. Genetic analysis involved whole-exome sequencing (WES), clinical exome sequencing (CES), WES of patient and parents (trio) (trio-WES), and mitochondrial DNA analysis. Results: The cohort included 29 male and 11 female neonates, with a median seizure onset at 1.5 days of life. Pathogenic or likely pathogenic variants were detected in 67.5% (27/40) of cases, including, but not limited to, variants in Conclusions: Our findings demonstrate a high diagnostic yield of next-generation sequencing (NGS) in unexplained neonatal seizures and underscore its clinical utility in pinpointing treatable conditions and prognosticating severe disorders.
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