SYNGAP1-related intellectual disability is a monogenetic developmental and epileptic encephalopathy that affects the central nervous system.
[1][2] Symptoms include intellectual disability, epilepsy, autism, sensory processing deficits, hypotonia and unstable gait.
[5] SYNGAP1 encephalopathy is an autosomal dominant genetic disorder caused by haploinsufficiency of the SynGAP protein, usually due to the presence of a heterozygous protein-truncating loss-of-function variation on the SYNGAP1 gene.
Epilepsy may be controlled by the use of one or more anti-epileptic drugs, vagus nerve stimulation, or the ketogenic diet in some cases.
Patients with significant mobility or gait issues may require the use of wheelchairs, adaptive strollers or ankle-foot orthoses.
[3][7] SYNGAP1 encephalopathy is estimated to comprise approximately 0.7–2% of all cases of intellectual disability[19][20][21] with over one million people expected to be affected worldwide.
[27] The use of statins to address the downstream impacts of loss of SynGAP function on the Ras signaling pathway is also being studied.
Stoke Therapeutics has a published patent for SYNGAP1, Praxis Precision Medicines and Q-State Biosciences have listed SYNGAP1 on their treatment pipelines.