Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
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 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
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
CureGRIN Foundation
CureGRIN Foundation is dedicated to improving the lives of people around the world with GRI Disorder, and their families, through research, education and connectivity. We work closely with scientists and the medical community to drive patient-centered research that will lead to treatments and cures.
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.
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.
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.
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
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.