SYNGAP1 mutations: Clinical, genetic, and pathophysiological features

摘要: SYNGAP1 is a gene that encodes the cytosolic protein (SYNaptic GTPase Activating Protein), an essential component of postsynaptic density at excitatory glutamatergic neurons. plays critical roles in synaptic development, structure, function, and plasticity. Mutations result neurodevelopmental disorder termed Mental retardation-type 5 (MRD5, OMIM #612621) with phenotype consisting intellectual disability, motor impairments, epilepsy, attesting to importance this for normal brain development. Here we review clinical pathophysiological aspects mutations focus on their effect synaptogenesis, neural circuit cellular We conclude by comparing molecular pathogenesis those another affects dendritic function plasticity, fragile X syndrome. Insights into similarities differences underlying these disorders could lead rationale therapy