Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.
Publication/Presentation Date
7-14-2026
Abstract
Heterozygous variants in SYNGAP1 and STXBP1 cause distinct neurodevelopmental disorders due to haploinsufficiency of essential synaptic proteins. As gene targeted approaches to correct these disorders often target non-conserved genomic regions, thus limiting their clinical translation, we generated humanized mouse models wherein the entire Syngap1 or Stxbp1 loci were replaced with their human counterparts. Stxbp1 humanized mice exhibited impaired viability, while Stxbp1 hybrid mice (Stxbp1
ISSN
1476-5578
Published In/Presented At
Felix, A. J., Brown, B. L., Marotta, N., Gessner, M. J., Houserova, M., Huerta-Ocampo, I., Wilson, T., Randell, R., Dawicki-McKenna, J. M., Reinhardt, D., Uchida, K., McSalley, I., McKee, J. L., Helbig, I., Boland, M. J., Davidson, B. L., & Prosser, B. L. (2026). Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder. Molecular psychiatry, 10.1038/s41380-026-03698-x. Advance online publication. https://doi.org/10.1038/s41380-026-03698-x
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
42448791
Department(s)
Department of Pediatrics
Document Type
Article