ArticleFrontiers in neuroscience2026
The genotypic spectrum of complex febrile seizures: insights from high-risk population genetic screening in a pediatric cohort.
Article in Frontiers in neuroscience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.
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Corrections and comments
- Erratum issued
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6 authors.
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Abstract
Background: Complex febrile seizures (CFS) confer an elevated risk of epilepsy progression; however, the underlying genetic architecture remains insufficiently characterized in Chinese pediatric populations. This study aimed to delineate the mutational landscape and genotype-phenotype associations in a clinically stratified high-risk febrile seizure cohort. Methods: This retrospective, single-center study enrolled 233 children (aged 6 months-6 years) who were consecutively screened at the Wuhan Children's Hospital (July 2019-January 2025) and fulfilled ≥ 1 predefined high-risk criterion. Targeted epilepsy gene panel sequencing was performed, and variant pathogenicity was adjudicated according to ACMG/AMP guidelines. Between-group comparisons were made using the Mann-Whitney U test, Pearson's χ Results: Sixty-seven patients (28.8%) harbored pathogenic/likely pathogenic (P/LP) variants in 18 genes. Voltage-gated sodium channel genes (SCN1A, SCN1B, SCN2A, SCN8A) accounted for 44.8% of positive cases, with SCN1A being most prevalent (25.4%). Patients fulfilling ≥ 2 high-risk criteria demonstrated a higher diagnostic yield than those with a single criterion (35.4% vs. 20.8%; OR = 2.10; 95% CI: 1.16-3.79; Conclusion: Targeted genetic screening in high-risk CFS populations yields a clinically significant diagnostic rate dominated by ion channel genes, facilitating early epilepsy risk identification and precise therapeutic intervention.
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