Synonyms: SYNGAP1-related DEE
A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures intellectual disability and autism spectrum disorder (ASD).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2025
Newly diagnosed with
SYNGAP1-related developmental and epileptic encephalopathy?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
SYNGAP1 Foundation
Committed to Improving the Lives of Families Affected by SYNGAP1 & Related Overlapping Neurological Disorders The SYNGAP1 Gene: Seeking the Genetic Link to Treatments in Related Neurological Disorders
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Syngap Research Fund
SRF is a 501(c)(3) incorporated in 2018. The mission is to improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies and support systems. Completely family led, SRF is the largest non-government funder of SynGAP research. SRF’s mantra is Collaboration, Transparency & Urgency.
TNPO2 Foundation
Develop personalized therapeutics for ultra rare genetic neurodevelopmental diseases, especially those arising from mutations in the TNPO2 gene.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.