ArticleAnnals of clinical and translational neurology2025
Molecular Screening of SCN1A-Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution.
Article in Annals of clinical and translational neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- The genotypic spectrum of complex febrile seizures: insights from high-risk population genetic screening in a pediatric cohort.Frontiers in neuroscience · 2026Article
- STAT3 signaling is associated with neuroimmune dysregulation in a Dravet syndrome model and pediatric drug-resistant epilepsy.Frontiers in neuroscience · 2026Article
- Clinical and genetics spectrum of 392 Chinese patients with genetic epilepsy with febrile seizures plus.Journal of neurology · 2025Article
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12 authors.
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Abstract
objectiveSCN1A-related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early identification and intervention in high-risk patients.
methodsWe analyzed data from a multicenter cohort of 2552 children with FS, no history of afebrile seizures, and no clear alternative diagnosis. Patients underwent gene panel testing for molecular screening. Clinical diagnoses were according to patient history and clinical evaluation. Variant classification followed ACMG guidelines, and the consistency of SCN1A missense variant distribution with the clinical diagnoses and established phenotypic severity was assessed.
resultsThe diagnostic yield of pathogenic SCN1A variants was 5.5% (141/2552; complex febrile seizure [CFS] vs. simple febrile seizure [SFS] group: 6.8% [95/1389] vs. 4.0% [46/1163], p = 0.001). The proportion of variants associated with Dravet syndrome (DS) did not differ significantly between the groups (χ
interpretationThis study demonstrates the limitations of relying solely on clinical classification for FS risk assessment and highlights the clinical value of molecular screening for early risk identification and individualized management.
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