SYNGAP1-related developmental and epileptic encephalopathy

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SYNGAP1-related developmental and epileptic encephalopathy

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: // Data version September 2023.

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Advocacy Organizations

Syngap Research Fund

SRF is a 501(c)(3) public charity 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 parent led, SRF is the largest non-government funder of SynGAP research. The founders cover SRF overhead, allowing donations to go toward research and programs to help SYNGAP1 patients. SRF’s mantra is Collaboration, Transparency & Urgency. SRF is a member of COMBINEDBrain, the Research Acceleration and Innovation Network (TRAIN) the Personalized Medicine Coalition, the Global Genes Global Advocacy Alliance, the Everylife Foundation Community Congress & the Innovation and Value Initiative. SRF is committed to serving all members of the community regardless of age, race, color, religion, creed, citizenship status, marital status, sexual orientation, sex, gender identity, genetic information, national origin, disability, veteran status or any other protected status under applicable law.


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

Clinical Trials

For a list of clinical trials in this disease area, please click here.