Myoclonic-astatic epilepsy

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Synonyms: Doose syndrome | EMAS | Epilepsy with myoclonic-astatic seizures | Epilepsy with myoclonic-atonic seizures | MAE | Myoclonic atonic epilepsy | Myoclonic-astatic epilepsy in early childhood

A rare childhood onset epilepsy syndrome characterized by multiple seizure types including myoclonic-atonic (MA) seizures that occur usually in previously healthy children.

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 Data version July 2024

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Myoclonic-astatic epilepsy?

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Advocacy Organizations

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.

SLC6A1 Connect

SLC6A1 Connect is a patient advocacy group dedicated to improving the lives of children and families affected by SLC6A1. SLC6A1 epileptic encephalopathy is a rare neurological condition in small children that causes seizures, severe movement and speech disorders and intellectual disability. Our group is led by and comprised of passionate and relentless parents of kids with SLC6A1. Our mission is to advance scientific research that will ultimately result in a disease modifying treatment.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.