SYNGAP1-related disorder: pathophysiology, epilepsy, cognitive and behavioral phenotypes, and precision therapeutic approaches

SYNGAP1-related disorder (SRD) is a monogenic synaptopathy caused bySYNGAP1haploinsufficiency, leading to a highly penetrant triad of intellectual disability, generalized epilepsy, and autism spectrum-associated behavioral and sensory abnormalities. At the molecular level, loss of the postsynaptic Ras GTPase-activating protein SynGAP disrupts Ras/Rap-ERK signaling, accelerates dendritic spine maturation, alters AMPA receptor trafficking, and destabilizes postsynaptic density architecture,…

via https://pubmed.ncbi.nlm.nih.gov/42161154/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1L37KAMf2b_g4WEK3LmdFuKZu9pO3cN7u4ZmO9PPCPeBLMIw1q&fc=None&ff=20260601010905&v=2.20.0


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