Registry and Natural History of Epilepsy-Dyskinesia Syndromes
Recruiting
Observational Study
Epilepsy-Dyskinesia
Epilepsy
Dyskinesia
EDS
Epilepsy-Dyskinesia Syndomes
Epilepsy in Children
Dyskinesias
Movement Disorders in Children
Neurologic Disorder
Chorea
Myoclonus
Ataxia
Dystonia Disorder
Movement Disorders
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 0 – 30
- Sex
- Any
- Study type
- Observational
- Participants needed
- 700 (estimated)
- Sponsor
- Boston Children's Hospital · Other
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About This Trial
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 be…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* Having at least one pathogenic or likely pathogenic variant in one of the genes of interest:
AARS2, ADCY5, ALG13, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, ARX, ATP1A3, CACNA1A, CACNA1E, CACNA2D2, CDKL5, CSTB, DARS2, DLAT, DLD, DNM1, EARS2, EPG5, EPM2A, FARS2, FOXG1, FRRS1L, GABRA1,…
Contacts