What is SYNGAP1?
Mutations in the SYNGAP1 gene (which produces the SynGAP protein) were first identified in 2009 and since then, an increasing number of children with SYNGAP1 have been identified. Normal levels of SynGAP protein are essential for proper brain function and development. Mutations in the SYNGAP1 gene also play an important role in the development of epileptic encephalopathies (DEEs). More than 80% of cases of SYNGAP1 are caused by a haploinsufficiency of the SYNGAP1 gene.
There are currently no approved treatments for SYNGAP1.
Symptoms and Effects
What are the symptoms and effects?
The severity and onset of symptoms can vary from patient to patient. SYNGAP1 is characterized by developmental delay or intellectual disability, generalized epilepsy, and autism spectrum disorder (ASD) and other behavioral abnormalities.
SYNGAP1 is estimated to account for 1% to 2% of all intellectual disability cases.
SYNGAP1: A Severe Intellectual Disability/Developmental and Epileptic Encephalopathy (ID/DEE)
Sources: 1 Parker et al., American Journal of Medical Genetics, 2015; Jimenez-Gomez et al., Journal of Neurodevelopmental
Disorders, 2019; 2 SYNGAP1 Resource Guide, Second Edition; An Overview of SYNGAP1 Basic Biology and Clinical Description.
Bridge the Gap SYNGAP (now SYNGAP1 Foundation); SynGAP Research Fund; 3 SYNGAP1-Related Intellectual Disability: