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 August 2026
Newly diagnosed with
SYNGAP1-related developmental and epileptic encephalopathy?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Access to Life NGO
Access to Life is Ukraine’s first patient advocacy organization for rare genetic epilepsies, anchored in Dravet syndrome and SCN1A-related conditions. We support 600+ families nationwide, advocate for a national clinical protocol and drug access, and are building Ukraine’s National Patient Resource Centre and Patient Registry for genetic epilepsies.
Genetic Epilepsy Team Australia
Collaboration of research and care
Legacy Bridges Foundation, Inc
The Legacy Bridges Foundation, Inc. is a 501(c)3 non-profit organization founded to bridge the gap to support, educate and advocate for individuals, families and caregivers of those living with epilepsy and other seizure related disorders. The Legacy Bridges Foundation, Inc. is dedicated to helping champions live a sustainable life through participation of essential supportive programs and service
Rare Epilepsy Network (REN)
REN connects and empowers the rare epilepsy community to collaborate across research, care, education, and advocacy to improve outcomes for patients and families.
ReNU2 Foundation
ReNU2 Foundation supports families affected by RNU2-2-related neurodevelopmental disease. We foster collaboration, raise awareness, and advance research—pursuing a world where every family has testing, informed care, community, and treatment.
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.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.