SCN1A -Related Epilepsies: Clinical Spectrum and Mechanisms

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27 Oct 2026 0 comments

Pathogenic variants in SCN1A are associated with a broad and overlapping spectrum of epilepsies, ranging from febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+) to severe developmental and epileptic encephalopathies (DEEs), most notably Dravet syndrome. SCN1A encodes the voltage-gated sodium channel α-subunit Nav1.1, which has a critical role in inhibitory interneurons. In classical loss-of-function-associated Dravet syndrome, reduced Nav1.1 function contributes to impaired...