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://www.orphadata.org. Data version April 2024
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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
To fund research for treatment and/or a cure for CASK Gene Disorder
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) 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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.