Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.
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 September 2024
Newly diagnosed with
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation?
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
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.
GRIN Europe
GRIN Europe is a valuable resource for parents navigating life with a GRIN child, playing an important role in expanding knowledge about GRIN disorders and increasing visibility globally. We support research projects, facilitate clinical trials, and foster essential connections between researchers, clinicians, and parents. GRIN Europe has years of experience organizing conferences.
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.
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.