Registry and Natural History of Epilepsy-Dyskinesia Syndromes

Launched by BOSTON CHILDREN'S HOSPITAL · May 4, 2025

Keywords

ClinConnect Summary

The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is a clinical trial designed to better understand certain genetic conditions that cause both epilepsy (seizures) and dyskinesia (involuntary movements). This study will collect medical information and biological samples, like blood and urine, from patients of all ages who have a specific genetic diagnosis related to these syndromes. By analyzing this data, researchers hope to discover patterns that link different types of seizures and movement disorders. Ultimately, the goal is to improve treatment options and foster collaboration among experts worldwide.

To be eligible for this study, participants must have a genetic mutation known to cause epilepsy-dyskinesia syndromes. This includes a variety of specific genes on a list provided by the researchers. The trial is not currently recruiting participants, but once it begins, individuals who qualify will have the chance to contribute to valuable research that could help others with similar conditions. Participants can expect to share their medical history and provide samples, which will be used to advance understanding of these complex disorders.

Gender

ALL

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, 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, PIGP, PIGQ, PIGS, PLCB1, POLG, PRRT2, PURA, RHOBTB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SETBP1, SETD5, SLC13A5, SLC1A2, SLC25A22, SLC2A1, SMC1A, SNX14, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TARS2, TBC1D24, UBA5, UBE3A, VAMP2, VARS2, WARS2, WDR45, WWOX, YIF1B, YWHAG, and other genes associated with epilepsy-dyskinesia syndromes.
• Exclusion Criteria:
• • Not having a pathogenic or likely pathogenic variants in the genes of interest