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, Gisele Vieira Rocha, Thaís Alves de Santana, Elisama Araújo da Silva, Rachel Santana Cunha, Fernanda Martins Marim, Victor Emmanuel Viana Geddes, Paola Alejandra Fiorani Celedón, Carolina Kymie Vasques Nonaka, Kátia Nunes da Silva, Dalila Lucíola Zanette, Zaquer Suzana Munhoz Costa, Clarissa Araújo Gurgel Rocha, , 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.
bioRxiv · Mar 23, 2026 · PreprintNeuroscience