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 April 2026
Newly diagnosed with
SYNGAP1-related developmental and epileptic encephalopathy?
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Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
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
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.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.