[8] A well-documented function of SynGAP1 involves NMDA receptor-mediated synaptic plasticity and membrane insertion of AMPA receptors through the suppression of upstream signaling pathways.

[9][11][13] Spine heads are enlarged due to the increased phosphorylation of cofilin, leading to a decrease in F-actin severing and turnover.

These neurons displayed a higher frequency and larger amplitudes of miniature excitatory postsynaptic potentials (mEPSP).

[15] Mutations in this gene have also been found associated to cases of developmental and epileptic encephalopathies, autism spectrum disorder, and touch-related sensory processing deficits.

[19][20] A causal therapy was the first successful worldwide by the group of Prof. Gerhard Kluger tested at the Schön Klinik in Vogtareuth with statins.