[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"epilepsy-dyskinesia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:epilepsy-dyskinesia":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":38,"overallStatus":57,"whyStopped":4,"lastUpdateSubmitDate":58,"lastUpdatePostDateStruct":59,"startDateStruct":62,"completionDateStruct":64,"leadSponsor":66,"locationsCount":5},"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":19,"type":20},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.",[24,25,26,27,28,29,30,31,32,33,34,35,36,37],"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",[39,24,40,26,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56],"epilepsy","Epilepsy-Dyskinesia Syndrome","movement disorders","epileptic encephalopathy","neurogenetics","PRRT2","ATP1A3","GNAO1","MECP2","CACNA1A","CDKL5","FOXG1","SCN1A","SCN8A","SLC2A1","STXBP1","UBA5","ADCY5","RECRUITING","2025-08-15",{"date":60,"type":61},"2025-08-17","ACTUAL",{"date":63,"type":61},"2025-06-01",{"date":65,"type":20},"2030-07",{"name":67,"class":68},"Boston Children's Hospital","OTHER"]