Hyperexcitability and translational phenotypes in a preclinical mouse model of SYNGAP1-related intellectual disability.

ABSTRACT: 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 (ID), motor impairments, and epilepsy. Over the past two decades, there have been numerous discoveries indicating 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. Homozygous loss of SYNGAP1/Syngap1 is lethal. Heterozygous mutations of Syngap1 result in a broad range of behavioral phenotypes. Our in vivo functional data, using the original m

SUBMITTER: Fenton TA 

PROVIDER: S-EPMC11447000 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature