NeurosciencebioRxivPreprint
Integrated multiomic profiling of SCN2A loss-of-function reveals widespread molecular remodeling in patient hiPSC-derived neurons
Adne Vitória Rocha Lima, Erik Aranha Rossi, Izabela Mamede…·Bruno Solano de Freitas Souza
This study investigates the molecular effects of SCN2A loss-of-function in patient-derived neurons, revealing NMD activation, isoform-specific dysregulation, and lncRNA network perturbations.