Non-specific early-onset epileptic encephalopathy

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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 June 2024

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Advocacy Organizations

Cure GABA-A Variants

Our vision at Cure GABA-A is a future where individuals living with GABA-A Variants experience improved quality of life and have access to personalized treatments. We envision a world where repurposed FDA-approved drugs and gene therapies offer hope and relief to patients, effectively managing symptoms and addressing the underlying genetic causes of GABA-A Variants. Our organization has the sole focus of understanding the most efficient and effective way to develop potential therapies for GABA-A Variants.

SNAP25 Foundation

The SNAP25 Foundation’s mission is: To accelerate research to cure SNAP25 Disorders, to spread awareness of SNAP25, and to provide families with knowledge and a supportive community.

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Clinical Trials

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