Registry and Natural History of Epilepsy-Dyskinesia Syndromes
Boston Children's Hospital
Summary
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.
Description
Movement disorders in childhood encompass a range of neurologic syndromes that are characterized by abnormalities of tone, posture, the initiation or control of voluntary movements, or unwanted involuntary movements. They are conventionally divided into hyperkinetic (dystonia, chorea, myoclonus, stereotypies, tics, and tremors) and hypokinetic (parkinsonism). Children often present with mixed movement disorders rather than pure syndromes and in a complex form, meaning associated comorbidities such as developmental delay, microcephaly, or epilepsy (Pearson and Pons 2019; Pérez-Dueñas et al. 202…
Eligibility
- Age range
- 0–30 years
- Sex
- All
- Healthy volunteers
- No
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, GABRA2, GABRB2, GABRB3, GABRG2, GNAO1, GRIA2, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, HARS2, HNRNPU, HTT, IQSEC2, IRF2BPL, KCNA2, KCNB1, KCNC1, KCNMA1, KCNQ2, KCNQ3, KCNT1, LARS2, MECP2, MEF2C, MTND5, MTTK, MTTL1, NARS2, NHLRC1, PCDH12, PCDH19, PDE10A, PDE2, PDHA1, PDHB, PDHX, PDK3, PDP1, PIGA, PIGN,…
Location
- Boston Children's HospitalBoston, Massachusetts