Open access
Sep 2026
Functional profiling of STXBP1 missense variants using a novel dual-readout fluorometric assay.
It is demonstrated that a scalable, quantitative assay capturing STXBP1 stability and syntaxin-binding behavior can differentiate benign from pathogenic variants and provide functional insights into mechanisms of pathogenicity.
Elisa A. Waxman, Jennine M. Dawicki-McKenna, I. McSalley et al.
· Epilepsia · 0 citations