Juvenile myoclonic epilepsy
Synonyms: JME | Juvenile myoclonus epilepsy
Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation alcohol intake and cognitive activities and typical absence seizures (30% of cases).
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 December 2023
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Juvenile myoclonic epilepsy?
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COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Genetic Epilepsy Team Australia
Collaboration of research and care
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.
Moonshots for Unicorns
Curing single-gene disorders
Pediatric Epilepsy Research Consortium
The Pediatric Epilepsy Research Consortium (PERC) is a group of US pediatric epilepsy centers, researchers and professionals in field of epilepsy whose goal is to provide a network and infrastructure to facilitate collegial, collaborative practice-changing research that will provide answers needed to improve the care of children with epilepsy.
To fund research for treatment and/or a cure for CASK Gene Disorder
Scarlett’s GABRA1 Village
We are a patient advocacy organization dedicated to improving the lives of children and families affected by this condition and other GABA-A mutations by raising awareness, creating a sense of community and collaborating with researchers to develop scientific treatment options.
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.