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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
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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.
Funding research into rare pediatric diseases
To help families get into Level IV Pediatric Epilepsy Centers for diagnosis and treatment urgently -- and provide support to families for every season of the pediatric epilepsy journey.
MAST Genes Research Foundation
Connecting families and fueling research into microtubule-associated serine/threonine kinase (MAST) genetic mutations to improve the quality of life and develop therapies to support affected patients and families.
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 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.
For a list of clinical trials in this disease area, please click here.