Genetic & Genomic MedicinemedRxivPreprint
Functional analysis enables reclassification of SCN1A missense variants of uncertain significance in epilepsy
Keerthi Pilli, Talia J Allan, Mark F Bennett…·Chai-Ann Ng
This paper uses automated patch-clamp assays to reclassify SCN1A missense variants, changing classifications for 50% of tested variants.
DOI 10.64898/2026.11.07.26367252