The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urine, and/or skin/tissue) from male and female patients, of all ages, who have a genetic diagnosis of epilepsy-dyskinesia syndromes. Through prospective review and molecular data analysis, the study aims to identify patterns and correlations between movement and seizure disorders, uncovering genotype-phenotype relationships. The initiative's goals are to enhance understanding of epilepsy-dyskinesia syndromes, inform precision medicine approaches, and foster international collaboration.
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Creation of Biorepository
Timeframe: 5 years
Assess Health-Related Quality of Life
Timeframe: 5 years
Understanding of Disease Spectrum
Timeframe: 5 years
Investigate the Efficacy of Symptomatic Treatments
Timeframe: 5 years
Darius Ebrahimi-Fakhari, MD, PhD