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 April 2026
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
CureGRIN Foundation
CureGRIN Foundation is dedicated to improving the lives of people around the world with GRI Disorders (GRIA, GRID, GRIK, and GRIN) and their families through research, education, and support. We work closely with scientists and the medical community to drive patient-centered research that will lead to treatments and cures.
Flourish, A Foundation of Hope
Flourish recognizes the challenges associated with living with a lifelong medical condition and seeks to provide support to impacted individuals, their families and caregivers.
GRI-UK
Our mission is to raise awareness of GRI gene disorders, to advocate for research, to support and empower affected individuals and families, and to build a community where everyone feels welcome and valued.
GRIN Europe
Our mission is to connect GRIN patients and similar rare genetic patient groups, facilitate research, and advocate for improved clinical care, ensuring equal access to treatments and specialized support. We collaborate with leading researchers, clinicians, and industry partners to push forward clinical trials, cross-border collaborations, and AI-assisted research initiatives.
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.
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.