Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder. Felix AJ, Brown BL, Marotta N, Gessner MJ, Houserova M, Huerta-Ocampo I, Wilson T, Randell R, Dawicki-McKenna JM, Reinhardt D, Uchida K, McSalley I, McKee JL, Helbig I, Boland MJ, Davidson BL, Prosser BL. Mol Psychiatry. 14 July 2026. doi: 10.1038/s41380-026-03698-x.
A prospective natural history study protocol for clinical trial readiness in synaptic disorders. McKee JL, Ruggiero SM, Cunningham K, Coyne J, McSalley I, Kaufman MC, Bane B, Chisari T, Toib J, Glatts C, Tefft S, Orlando JM, Padmanabhan V, Gonzalez AK, Harrison A, Woo C, Zbikowski SA, Dhaduk R, Mercurio J, McCarthy M, Magielski JH, […]
Reliability and stability of cerebral palsy classification scales for individuals with STXBP1- and SYNGAP1-related disorders. Pierce SR, Orlando JM, Cunningham KG, Ruggiero SM, Kaufman MC, Mckee JL, Helbig I. Dev Med Child Neurol. 2026 Apr 10. doi: 10.1111/dmcn.70265. Online ahead of print. PMID: 41964267
CRISPR-mediated transcriptional activation as a mutation-independent therapeutic strategy for SYNGAP1-related intellectual disability. Sichlinger L, Reilly MB, Arora S, Zhang S, Marotta N, Rodríguez-Acevedo KL, Hooks M, Czarnecki KS, Winter JJ, Waxman EA, Dungan LV, Hong I, Araki Y, Johnson R, Huganir RL, Pavani G, French DL, Davidson BL, Prosser BL, Heller EA. bioRxiv. 2025 Oct […]