Functional profiling of STXBP1 missense variants using a novel dual-readout fluorometric assay.
Waxman EA, Dawicki-McKenna JM, McSalley I, Prentice AJ, Chisari TA, Ruggiero SM, McKee JL, Felix AJ, Pavani G, ProsserBL, Boland MJ, and Helbig I.
Epilepsia. 2026; 00: 1–16. PMID: 42811883. DOI: 10.1002/epi.70504. Online ahead of print.