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 characteristic...

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Detalles Bibliográficos

Principais autores:	Jia Wang, Yang‐Yang Wang, Lin‐Yan Hu, Xiu‐Yu Shi, Wen He, Dan Sun, Baoguang Li, Xiaoming Liu, Sanqing Xu, Lijun Du, Chunhui Tang, Li‐Ping Zou
Formato:	Artigo
Idioma:	Inglês
Publicado:	Wiley 2025-08-01
Series:	Annals of Clinical and Translational Neurology
Assuntos:	febrile seizures genotype–phenotype association molecular screening precision medicine SCN1A‐related seizures
Acceso en liña:	https://doi.org/10.1002/acn3.70114
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