Molecular Screening of SCN1A-Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution.

ABSTRACT:

Objective

SCN1A-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.

Methods

We 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

SUBMITTER: Wang J 

PROVIDER: S-EPMC12343310 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature