Article

Hyperexcitability and translational phenotypes in a preclinical model of <i>SYNGAP1</i> mutations

2023-07-26

Abstract excerpt

SYNGAP1 is a critical gene for neuronal development, synaptic structure, and function. Although rare, the disruption of SYNGAP1 directly causes a genetically identifiable neurodevelopmental disorder (NDD) called SYNGAP1-related intellectual disability. Without functional SynGAP1 protein, patients present with intellectual disability, motor impairments, and epilepsy. Previous work using mouse models with a variety...

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Literature Corpus work: d66ac0e9-cdfa-5613-a7ea-52dbebd0ac2e
DOI: 10.1101/2023.07.24.550093

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