- SYNGAP1 (synaptic ras GTPase-activating protein 1) is a gene responsible for making proteins (called SYNGAP), which are essential for cognition and normal synapse function in the brain.
- Changes in the SYNGAP1 gene can either be de novo (new in the person with epilepsy and not inherited from a parent) or be inherited from a parent.
- Epilepsy associated with the SYNGAP1 gene usually begins during infancy and early childhood, and eyelid myoclonia with absence seizures, myoclonic-atonic seizures, myoclonic seizures and photosensitivity are common.
- Mild to severe intellectual disability, Autism spectrum disorder (ASD), low muscle tone, sleep, behaviour and eating problems are all associated with changes in the SYNGAP1 gene.
- Diagnosis for SYNGAP1 epilepsy will require genetic testing.
Contacts and information