Functional analysis enables reclassification of SCN1A missense variants of uncertain significance in epilepsy

SCN1A, the most prominent gene for epilepsy, encodes the pore-forming subunit of the voltage-gated sodium channel, NaV1.1. Loss-of-function variants reduce NaV1.1 activity in inhibitory neurons leading to hyperexcitability; they are associated with a spectrum of epilepsies, from self-limited phenotypes in genetic epilepsy with febrile seizures plus, to the prototypic developmental and epileptic encephalopathy, Dravet syndrome. Thousands of SCN1A missense variants have been identified, but determining pathogenicity using ACMG criteria can be challenging. Currently, 48% of missense SCN1A variant

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