[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100590462":3},{"organization":4,"armGroups":7,"interventions":7,"overallOfficials":7,"centralContacts":8,"locations":17,"responsibleParty":30,"collaborators":7,"id":34,"slug":7,"hasResults":35,"nctId":36,"briefTitle":37,"officialTitle":37,"acronym":7,"eligibilityCriteria":38,"healthyVolunteers":35,"sex":39,"minAge":40,"maxAge":41,"enrollmentInfo":42,"targetDuration":7,"studyType":45,"phases":7,"briefSummary":46,"conditions":47,"keywords":62,"overallStatus":19,"whyStopped":7,"lastUpdateSubmitDate":81,"lastUpdatePostDateStruct":82,"startDateStruct":85,"completionDateStruct":87,"leadSponsor":89,"locationsCount":90},{"fullName":5,"class":6},"Boston Children's Hospital","OTHER",null,[9,14],{"name":10,"role":11,"phone":12,"phoneExt":7,"email":13},"Darius Ebrahimi-Fakhari, MD, PhD","CONTACT","617-355-0097","movementdisorders@childrens.harvard.edu",{"name":15,"role":11,"phone":16,"phoneExt":7,"email":13},"Josh Rong, BS","617-355-0903",[18],{"facility":5,"status":19,"city":20,"state":21,"zip":22,"country":23,"cosmosGeoPoint":24,"geoPoint":29,"contacts":7},"RECRUITING","Boston","Massachusetts","02115","United States",{"type":25,"coordinates":26},"Point",[27,28],-71.05977,42.35843,{"lat":28,"lon":27},{"type":31,"investigatorFullName":32,"investigatorTitle":33,"investigatorAffiliation":5,"oldNameTitle":7,"oldOrganization":7},"PRINCIPAL_INVESTIGATOR","Darius Ebrahimi-Fakhari","Principal Investigator","100590462",false,"NCT06967727","Registry and Natural History of Epilepsy-Dyskinesia Syndromes","Inclusion Criteria:\n\n* Having at least one pathogenic or likely pathogenic variant in one of the genes of interest:\n\nAARS2, 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.\n\nExclusion Criteria:\n\n* Not having a pathogenic or likely pathogenic variants in the genes of interest","ALL","0 Years","30 Years",{"count":43,"type":44},700,"ESTIMATED","OBSERVATIONAL","The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urine, and\u002For skin\u002Ftissue) 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.",[48,49,50,51,52,53,54,55,56,57,58,59,60,61],"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",[63,48,64,50,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80],"epilepsy","Epilepsy-Dyskinesia Syndrome","movement disorders","epileptic encephalopathy","neurogenetics","PRRT2","ATP1A3","GNAO1","MECP2","CACNA1A","CDKL5","FOXG1","SCN1A","SCN8A","SLC2A1","STXBP1","UBA5","ADCY5","2025-08-15",{"date":83,"type":84},"2025-08-17","ACTUAL",{"date":86,"type":84},"2025-06-01",{"date":88,"type":44},"2030-07",{"name":5,"class":6},1]