Topic: SYNGAP1

Patients with neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD), are thought to experience less pain, which is largely based on subjective caregiver or clinician reports of blunted behavioral expression in response to painful stimuli. But recent studies suggest that physiological responses (heart rate, cortisol levels, etc.) to noxious stimuli are heightened compared to neurotypical individuals. The neural valence system is a network of interconnected brain regions that integrates downward sensory stimuli with upward signals reflecting the current physiological state

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