Functional analysis enables reclassification of SCN1A missense variants of uncertain significance in epilepsy
K. Pilli, T. J. Allan, M. F. Bennett, R. V. Harris, A. L. Schneider, Q. Shen, J. G. Ma, M. S. Hildebrand, E. E. Palmer, A. L. George, S. F. Berkovic, J. I. Vandenberg, I. E. Scheffer, Chai-Ann Ng
This paper uses automated patch-clamp assays to reclassify SCN1A missense variants, changing classifications for 50% of tested variants.
medRxiv · Nov 9, 2026 · PreprintGenetic & Genomic Medicine