From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

doi:10.1007/s00439-026-02867-w

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Article

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Human genetics - 29 Aug 2026

Szalai Renata, Till Agnes, Galimurka Krisztina, Banfai Zsolt, Zsigmond Anna, Hadzsiev Kinga

Abstract excerpt

Epilepsy represents a highly prevalent neurological disorder with a significant genetic component, particularly implicating ion channel genes, including SCN1A. In this study, 431 individuals with heterogeneous paediatric-onset epilepsy phenotypes were assessed at the Department of Medical Genetics, University of Pécs between 2018 and 2024. Genetic investigations employed Sanger sequencing, targeted epilepsy gene...

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PMID: 42667410
DOI: 10.1007/s00439-026-02867-w
PMCID: PMC13526097

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SCN1A

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