SYNGAP1

Summary

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.

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