Topic: RAS/ERK signalling pathway

Mutations in SYNGAP1 gene represent one of the most frequent genetic causes of neurodevelopmental disorders. De novo heterozygous SYNGAP1 variants are associated with a complex clinical presentation, characterized by intellectual disability, epileptic encephalopathy, hyperactivity, sleep and language disorder, and autism spectrum disorder. The SynGAP protein is highly expressed in excitatory neurons and localized mainly to synapses as a core post-synaptic density protein. Here, it acts as a potent regulator of the RAS/ERK signalling pathway, regulating synaptic plasticity and neuronal homeosta