Jill Silverman, Timothy Fenton, Olivia Haouchine, Elizabeth Hallam, Emily Smith, Roy Ben-Shalom, Kiya Jackson, Cesar Canales, Alex Nord, Anna Adhikari, Darlene Rahbarian
Disruption of SYNGAP1 directly causes a genetically identifiable neurodevelopmental disorder (NDD) called SYNGAP1-related intellectual disability (SRID). Without functional SynGAP1 protein, individuals are developmentally delayed and have prominent features of intellectual disability, motor impairments, and epilepsy. Over the past two decades, there have been numerous discoveries indicting the critical role of Syngap1. Several rodent models with a loss of Syngap1 have been engineered identifying precise roles in neuronal structure and function, as well as key biochemical pathways key for synapse integrity...
March 19, 2024: Research Square