Non-specific early-onset epileptic encephalopathy
Synonyms: Non-specific EOEE | Undetermined EOEE | Undetermined early-onset epileptic encephalopathy
A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development intellectual disability poor or absent speech development behavioral abnormalities hypotonia movement disorders spasticity microcephaly and dysmorphic facial features among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.
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 2023.
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Non-specific early-onset epileptic encephalopathy?
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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.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain 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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.