Synonyms: GEPD
Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22) encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.
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 2024
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Generalized epilepsy-paroxysmal dyskinesia syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
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
Mickie?s Miracles
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.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.