[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100590462":3},{"organization":4,"armGroups":7,"interventions":7,"overallOfficials":7,"centralContacts":8,"locations":17,"responsibleParty":31,"collaborators":7,"id":35,"slug":36,"hasResults":37,"nctId":38,"briefTitle":39,"officialTitle":39,"acronym":7,"eligibilityCriteria":40,"healthyVolunteers":37,"sex":41,"minAge":42,"maxAge":43,"enrollmentInfo":44,"targetDuration":7,"studyType":47,"phases":7,"briefSummary":48,"conditions":49,"keywords":64,"overallStatus":19,"whyStopped":7,"lastUpdateSubmitDate":83,"lastUpdatePostDateStruct":84,"startDateStruct":87,"completionDateStruct":89,"leadSponsor":91,"locationsCount":92},{"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,"countryCode":24,"cosmosGeoPoint":25,"geoPoint":30,"contacts":7},"RECRUITING","Boston","Massachusetts","02115","United States","US",{"type":26,"coordinates":27},"Point",[28,29],-71.05977,42.35843,{"lat":29,"lon":28},{"type":32,"investigatorFullName":33,"investigatorTitle":34,"investigatorAffiliation":5,"oldNameTitle":7,"oldOrganization":7},"PRINCIPAL_INVESTIGATOR","Darius Ebrahimi-Fakhari","Principal Investigator","100590462","registry-and-natural-history-of-epilepsy-dyskinesia-syndromes-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":45,"type":46},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.",[50,51,52,53,54,55,56,57,58,59,60,61,62,63],"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",[65,50,66,52,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82],"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":85,"type":86},"2025-08-17","ACTUAL",{"date":88,"type":86},"2025-06-01",{"date":90,"type":46},"2030-07",{"name":5,"class":6},1]