Article

Mouse models of <i>SYNGAP1</i> -related intellectual disability

2023-05-25

Abstract excerpt

SYNGAP1 is a Ras-GTPase activating protein highly enriched at excitatory synapses in the brain. De novo loss-of-function mutations in SYNGAP1 are a major cause of genetically defined neurodevelopmental disorders (NDD). These mutations are highly penetrant and cause SYNGAP1 -related intellectual disability (SRID), a NDD characterized by cognitive impairment, social deficits, early-onset seizures, and sleep distu...

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Literature Corpus work: ac19b0db-8f23-51e9-acb8-4ac470f46f51
DOI: 10.1101/2023.05.25.542312

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