Registry and Natural History Study of Epilepsy-Dyskinesia Syndromes in Children and Young Adults with Genetic Diagnosis

What this Trial Is About

Researchers are studying epilepsy-dyskinesia syndromes, which include movement disorders and seizures linked to genetic causes. This observational study aims to collect long-term clinical data and biological samples from patients of all ages with a confirmed genetic diagnosis. By analyzing molecular and clinical information, the study hopes to uncover patterns that improve understanding of these complex conditions and support precision medicine and international collaboration. Participants will be part of a registry and natural history study where data on clinical features, disease progression, developmental history, functionality, treatment response, and genetic variants will be gathered. Biological samples like blood, urine, and tissue will be collected to establish a biobank. The study is designed to explore genotype-phenotype correlations, assess the impact of symptoms on quality of life, and evaluate treatments over a long period. During the study, participants will undergo regular clinical assessments and provide biological samples to help researchers measure disease characteristics, treatment effects, and quality of life. Outcomes include creating a biorepository, understanding the disease spectrum, assessing treatment effectiveness, and establishing readiness for future clinical trials. The study will last for at least five years, with ongoing monitoring and data collection to support these goals.

Registry and Natural History of Epilepsy-Dyskinesia Syndromes