[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"epilepsy-in-children\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:epilepsy-in-children":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,14,0,[8,49,84,123,162,197,222,248,271,295,320,341,363,385],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":29,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100562884","epilepsy-journey-an-executive-functioning-intervention-for-teens-with-epilepsy-100562884",false,"NCT06608966","Epilepsy Journey-An Executive Functioning Intervention for Teens With Epilepsy","Epilepsy Journey 2.0: An Intervention to Improve Executive Functioning in Adolescents With Epilepsy","Inclusion Criteria:\n\n1. Age between 13-17 years at the time of enrollment\n2. Child lives at home with primary caregiver and is enrolled in school (excluding summer breaks).\n3. Confirmed diagnosis of epilepsy with seizures that are categorized as either generalized or focal in onset. Epilepsy is defined as: 1) At least two unprovoked seizures occurring more than 24-hours apart; or 2) One unprovoked seizure and a probability of further seizures similar to the general recurrence risk after two unprovoked seizures.\n4. Primary language of English\n5. Screening Inclusion: On the parent-reported Behavior Rating Inventory of Executive Function-2nd edition (BRIEF-2), have executive functioning deficits defined as at least 2 subclinical (60\\\u003CT\\\u003C65) or one clinical BRIEF-2 subscale T scores (T≥65).\n6. Parent\u002Flegal guardian(s) willing to sign an IRB approved informed consent\n7. Participant willing to sign an Institutional Review Board approved assent\n\nExclusion Criteria:\n\n1. Parent or clinician-reported history in the adolescent of:\n\n   1. developmental delay (e.g., autism spectrum disorder, pervasive development disorder, history of services for developmental delay or intellectual impairment in the past 5 years, known IQ\\\u003C70)\n   2. severe mental illness (e.g., schizophrenia, bipolar disorder, eating disorder within the past 12 months, depression with active suicidal ideation or suicidal ideation\u002Fintent in the past 3 months)\n   3. prior (3-months) or current history of trauma and\u002For stressor-related disorders (e.g. PTSD)\n   4. recent or current significant medical disease (i.e., cardiovascular, hepatic, renal, gynecologic, musculoskeletal, metabolic or endocrine)\n   5. brain injury or brain tumor; and\u002For\n   6. epilepsy surgery\n   7. any other medical and\u002For psychological condition that takes treatment precedence over the study intervention\n2. Clinician-reported diagnosis in the adolescent of\n\n   1. epilepsy whose seizures are categorized only as either unknown onset or unclassified onset (defined as insufficient information to determine onset)\n   2. epilepsy currently being treated at the time of enrollment by 3 or more antiseizure medications (ASMs) (excluding rescue medication use)\n   3. epilepsy with a history of failure to achieve seizure freedom despite adequate use of 4 different anti-seizure medications\n   4. a confirmed or suspected epileptic encephalopathy (e.g., electrical status epilepticus in sleep, Landau Kleffner syndrome, West syndrome)\n   5. a confirmed or suspected progressive and degenerative disorder (e.g., mitochondrial disorders, metabolic disorders, autoimmune disorders)\n   6. one or more episodes of status epilepticus within the 24 weeks prior to enrollment; and\u002For\n   7. treatable causes of seizures, for example identified etiologies including metabolic, neoplastic, or active infectious origin.\n   8. non-epileptic event\u002Fseizures\n3. Adolescents currently on the ketogenic diet\n4. Participation in a trial of an investigational drug or device within 30 days prior to screening","ALL","13 Years","17 Years",{"count":20,"type":21},310,"ESTIMATED","INTERVENTIONAL",[24],"NA","The goal of this multi-site clinical trial is to determine the effectiveness of two components of a web-based intervention (Epilepsy Journey) to improve executive functioning in adolescents with epilepsy. The two components include web-based modules and problem-solving telehealth sessions with a therapist focused on executive functioning. This trial aims to answer the following questions:\n\n1. Which components of Epilepsy Journey (web-based modules or telehealth sessions with a therapist) are essential for improving executive functioning in adolescents with epilepsy?\n2. Which components of Epilepsy Journey (web-based modules or telehealth sessions with a therapist) are essential for improving quality of life in adolescents with epilepsy?\n\nParticipants will be randomly assigned to one of four groups: 1) Epilepsy Journey web-based modules and telehealth sessions, 2) Epilepsy Journey web-based modules only, 3) telehealth sessions with a therapist only, or 4) treatment as usual.\n\nParticipants will:\n\n* Independently review Epilepsy Journey web-based modules focused on executive functioning skills (\\~15-30 minutes) and\u002For have weekly telehealth sessions (\\~30-45 minutes) with a therapist for 14 weeks.\n* Complete measures of executive functioning (parent and teen-report) and quality of life (teen-report) at the start of the study, 14-, 26-, and 66- weeks after randomization. The NIH toolbox will be completed at the start of the study and 26-weeks after randomization. Additional measures will also be collected.",[27,28],"Epilepsy in Children","Executive Dysfunction",[30,31,32,33,34,35],"adolescents","executive functioning","seizures","epilepsy","behavioral trial","web-based intervention","RECRUITING","2026-06-23",{"date":39,"type":40},"2026-06-25","ACTUAL",{"date":42,"type":40},"2024-11-11",{"date":44,"type":21},"2029-01-31",{"name":46,"class":47},"Children's Hospital Medical Center, Cincinnati","OTHER",3,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":53,"acronym":4,"eligibilityCriteria":54,"healthyVolunteers":55,"sex":16,"minAge":56,"maxAge":4,"enrollmentInfo":57,"targetDuration":4,"studyType":22,"phases":59,"briefSummary":60,"conditions":61,"keywords":68,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":75,"lastUpdatePostDateStruct":76,"startDateStruct":78,"completionDateStruct":80,"leadSponsor":82,"locationsCount":48},"100551076","the-genetics-navigator-evaluating-a-digital-platform-for-genomics-health-services-100551076","NCT06455384","The Genetics Navigator: Evaluating a Digital Platform for Genomics Health Services","Inclusion:\n\n* Adult patients (18 years of age or older) who are referred to participating clinicians at Mount Sinai Hospital for clinical genetic testing.\n* Parents\u002Flegal guardians (18 years of age or older) of pediatric patients who are referred to participating clinicians at SickKids for clinical genetic testing.\n\nExclusion:\n\n* Known not to be eligible for clinical genetic testing in Ontario\n* Requires urgent clinical genetic testing or prenatal genetic testing\n* Not fluent in English (speaking and reading)",true,"18 Years",{"count":58,"type":21},170,[24],"Genetic testing (GT) (including targeted panels, exome and genome sequencing) is increasingly being used for patient care as it improves diagnosis and health outcomes. In spite of these benefits, genetic testing is a complex and costly health service. This results in unequal access, increased wait times and inconsistencies in care. The use of e-health tools to support genetic testing delivery can result in a better patient experience and reduced distress associated with waiting for results and empower patients to receive and act on medical results. We have previously developed and tested an interactive, adaptable and patient-centred digital decision support tool (Genetics ADvISER) to be used for genetic testing decision making, and have now developed the Genetics Navigator (GN), a patient-centred e-health navigation platform for end-to-end genetic service delivery. The objective of this study is to evaluate the effectiveness of the GN in an RCT in reducing distress with patients and parents of patients being offered genetic testing. Results of this trial will be used to establish whether the GN is effective to use in practice. If effective, GN could fill a critical clinical care gap and improve health outcomes and service use by reducing counselling burden as well as overuse, underuse and misuse of services. These are concerns policy makers seek to address through the triple aims of health care1. This study represents a significant advance in personalized health by assessing the effectiveness of this novel, comprehensive e-health platform to ultimately improve genetic service delivery, accessibility, patient experiences, and patient outcomes.",[62,63,64,27,65,66,67],"Cardiac Conditions","Connective Tissue Diseases","Retinal Disease","Neurodevelopmental Disorders","Cancer","Polyposis",[69,70,71,72,73,74],"Genomic Sequencing","Randomized Controlled Trial","Clinical Utility","Personal Utility","Decision Aid","Incidental Findings","2026-06-19",{"date":77,"type":40},"2026-06-24",{"date":79,"type":40},"2025-10-28",{"date":81,"type":21},"2027-07",{"name":83,"class":47},"Unity Health Toronto",{"id":85,"slug":86,"hasResults":11,"nctId":87,"briefTitle":88,"officialTitle":89,"acronym":90,"eligibilityCriteria":91,"healthyVolunteers":11,"sex":16,"minAge":92,"maxAge":56,"enrollmentInfo":93,"targetDuration":4,"studyType":95,"phases":4,"briefSummary":96,"conditions":97,"keywords":106,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":113,"lastUpdatePostDateStruct":114,"startDateStruct":116,"completionDateStruct":118,"leadSponsor":120,"locationsCount":122},"100561089","a-multicenter-pediatric-deep-brain-stimulation-registry-100561089","NCT06585618","A Multicenter Pediatric Deep Brain Stimulation Registry","Multicenter Pediatric Deep Brain Stimulation Registry","DBS-R","Inclusion Criteria:\n\n* Female or male patients between ages of 0-18 years.\n* Having received or scheduled to receive DBS for any neurological movement disorder.\n* Parents or legal guardians are able to provide written consent for prospective enrollment.","0 Years",{"count":94,"type":21},100,"OBSERVATIONAL","There is limited data on outcomes for children who have undergone deep brain stimulation (DBS) for movement disorders, and individual centers performing this surgery often lack sufficient cases to power research studies adequately. This study aims to develop a multicenter pediatric DBS registry that allows multiple sites to share clinical pediatric DBS data. The primary goals are to enable large-scale, well-powered analyses of the safety and efficacy of DBS in the pediatric population and to further explore and refine DBS as a therapeutic option for children with dystonia and other hyperkinetic movement disorders. Given the current scarcity of evidence available to clinicians, this centralized multicenter repository of clinical data is critical for addressing key research questions and improving clinical practice for pediatric DBS.",[98,27,99,100,101,102,103,104,105],"Dystonia","Cerebral Palsy","Tourette Syndrome","Obsessive-Compulsive Disorder","Neurologic Disorder","Movement Disorders in Children","Movement Disorders","Deep Brain Stimulation",[105,107,108,109,110,111,112,33],"DBS","movement disorder","movement disorders in children","dystonia","chorea","dyskinesia","2026-03-16",{"date":115,"type":40},"2026-03-18",{"date":117,"type":40},"2024-07-30",{"date":119,"type":21},"2029-07-30",{"name":121,"class":47},"Boston Children's Hospital",1,{"id":124,"slug":125,"hasResults":11,"nctId":126,"briefTitle":127,"officialTitle":127,"acronym":4,"eligibilityCriteria":128,"healthyVolunteers":11,"sex":16,"minAge":92,"maxAge":56,"enrollmentInfo":129,"targetDuration":4,"studyType":95,"phases":4,"briefSummary":131,"conditions":132,"keywords":139,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":113,"lastUpdatePostDateStruct":156,"startDateStruct":157,"completionDateStruct":159,"leadSponsor":161,"locationsCount":122},"100561088","a-retrospective-survey-based-multicenter-study-to-delineate-the-molecular-and-phenotypic-spectrum-of-epilepsy-dyskinesia-syndromes-100561088","NCT06585605","A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes","Inclusion Criteria:\n\n* Children between 0 - 18 years of age with a movement disorder and a pathogenic or likely pathogenic variant in one of the genes of interest:\n\nAARS2 ALG13 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 ARX ATP1A3 CACNA1A CACNA1E CACNA2D2 CDKL5 CSTB DARS2 DLAT DLD DNM1 EARS2 EPG5 FARS2 FOXG1 FRRS1L GABRA1 GABRA2 GABRB2 GABRB3 GABRG2 GRIA2 GRIA4 GRIN1 GRIN2A GRIN2B GRIN2D GNAO1 HARS2 HNRNPU IQSEC2 KCNA2 KCNB1 KCNC1 KCNMA1 KCNQ2 KCNQ3 KCNT1 LARS2 MECP2 MEF2C MTND5 MTTL1 MTTK NARS2 NHLRC1 PDE10A PDE2 PCDH12 PCDH19 PDK3 PIGP PIGQ PIGS PIGN POLG PDHA1 PDHB PDHX PRRT2 PURA RHOBTB2 SCN1A SCN1B SCN2A SCN8A SCN9A SLC13A5 SLC1A2 SLC2A1 SLC25A22 SMCA1 SNP14 ST3GAL3 STXBP1 SPTAN1 SYNGAP1 TBC1D24 TBL1WL1 TARS2 UBA5 UBE3A VAMP2 VARS2 WARS2 WDOX WDR45 YIF1B YWHAG\n\nExclusion Criteria:\n\n* Not having such diagnosis and\u002For not presenting a movement disorder.",{"count":130,"type":21},500,"The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, monogenic diseases that cause both movement disorders and epilepsy. Addressing challenges in rare disease research -such as small, geographically dispersed patient populations and a lack of standardized protocols- the study employs a multinational retrospective survey endorsed by the International Parkinson and Movement Disorder Society. This survey seeks to collect comprehensive data on clinical features, disease progression, age of onset, genetic variants, and concurrent neurological conditions, standardizing data collection across countries to provide a unified understanding of these conditions. Through retrospective 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.",[27,133,103,102,134,135,136,137,138,104],"Dyskinesias","Chorea","Myoclonus","Ataxia","Epilepsy","Dystonia Disorder",[140,141,142,112,110,143,144,145,146,147,148,149,150,151,152,153,154,155],"epilepsy-dyskinesia syndrome","movement disorders","epileptic encephalopathy","neurogenetics","PRRT2","ATP1A3","MECP2","CACNA1A","CDKL5","FOXG1","GNAO1","SCN1A","SCN8A","SLC2A1","STXBP1","UBA5",{"date":115,"type":40},{"date":158,"type":40},"2024-07-01",{"date":160,"type":21},"2029-12-31",{"name":121,"class":47},{"id":163,"slug":164,"hasResults":11,"nctId":165,"briefTitle":166,"officialTitle":167,"acronym":168,"eligibilityCriteria":169,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":56,"enrollmentInfo":170,"targetDuration":4,"studyType":95,"phases":4,"briefSummary":172,"conditions":173,"keywords":175,"overallStatus":186,"whyStopped":4,"lastUpdateSubmitDate":187,"lastUpdatePostDateStruct":188,"startDateStruct":190,"completionDateStruct":192,"leadSponsor":194,"locationsCount":196},"100623457","developmental-and-epileptic-encephalopathies-diagnosed-via-long-read-genome-sequencing-100623457","NCT07396883","Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing","Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing - EEPILOG","EEPILOG","Inclusion Criteria:\n\nPediatric Participants:\n\n* Age \\\u003C 18 years.\n* Diagnosis of Developmental and Epileptic Encephalopathy (DEE) according to 2022 ILAE criteria (severe epilepsy, encephalopathic EEG, multiple drug-resistant seizures, and neurodevelopmental disorder).\n* Brain MRI without markers of perinatal anoxia.\n* Negative molecular diagnosis after short-read Whole Genome Sequencing (srWGS) via the French Genomic Medicine Plan 2025 (AURAGEN).\n* Available banked DNA at a participating center.\n\nParents\u002FLegal Guardians:\n\n* Age ≥ 18 years.\n* Able to understand study objectives and risks.\n* Signed and dated informed consent.\n* Affiliated with or beneficiary of a social security scheme.\n\nExclusion Criteria:\n\nPediatric Participants:\n\n* Brain MRI findings in favor of perinatal cerebral anoxia.\n* Intercurrent diseases preventing the completion of protocol examinations.\n* Subject currently in an exclusion period from another study.\n\nParents\u002FLegal Guardians:\n\n* Inability to receive or understand informed information (e.g., life-threatening emergency).\n* Subject under judicial protection, tutelage, or curatorship.\n* Language barriers where an official interpreter is unavailable.",{"count":171,"type":21},20,"This study focuses on children with Developmental and Epileptic Encephalopathy (DEE), a severe form of epilepsy that often has a genetic origin. Currently, standard diagnostic tools-known as short-read genome sequencing-fail to provide a diagnosis for over 50% of affected patients because they cannot detect certain complex DNA abnormalities.\n\nThe purpose of this study is to evaluate the effectiveness of a newer, more advanced technology called Long-read Genome Sequencing (lrWGS). Unlike traditional methods, this technology analyzes very long fragments of DNA, allowing researchers to identify genetic errors that were previously \"invisible.\"\n\nThe study aims to answer whether Long-read Sequencing can successfully identify the genetic cause of epilepsy in patients who have already received a negative result from standard testing. By finding these missing answers, the research seeks to enable personalized medical treatments, improve genetic counseling for families, and advance our understanding of how these complex neurological conditions develop.",[174,27],"Developmental and Epileptic Encephalopathy",[176,177,178,179,180,181,182,183,184,185],"Developmental and Epileptic Encephalopathy (DEE)","Drug-Resistant Epilepsy","Long-read Whole Genome Sequencing (lrWGS)","Long-read Sequencing","Negative Short-read Sequencing","Genetic Diagnosis","Pediatric Neurology","High-Throughput Nucleotide Sequencing","Early-Onset Epilepsy","Genetic Epilepsy","NOT_YET_RECRUITING","2026-02-02",{"date":189,"type":40},"2026-02-09",{"date":191,"type":21},"2026-06",{"date":193,"type":21},"2028-06",{"name":195,"class":47},"University Hospital, Strasbourg, France",4,{"id":198,"slug":199,"hasResults":11,"nctId":200,"briefTitle":201,"officialTitle":202,"acronym":203,"eligibilityCriteria":204,"healthyVolunteers":11,"sex":16,"minAge":205,"maxAge":18,"enrollmentInfo":206,"targetDuration":4,"studyType":22,"phases":208,"briefSummary":209,"conditions":210,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":211,"lastUpdatePostDateStruct":212,"startDateStruct":214,"completionDateStruct":216,"leadSponsor":218,"locationsCount":221},"100536973","prognostic-value-of-high-resolution-electrical-source-imaging-on-the-success-of-pediatric-focal-epilepsy-surgery-100536973","NCT06271785","Prognostic Value of High-resolution Electrical Source Imaging on the Success of Pediatric Focal Epilepsy Surgery","ISEPEE : Prognostic Value of High-resolution Electrical Source Imaging on the Success of Pediatric Focal Epilepsy Surgery","ISEPEE","Inclusion Criteria:\n\n1. Age≥2 and \\\u003C17 years;\n2. Drug-resistant focal epilepsy (failure of at least 2 well-conducted drug trials);\n3. Phase 1 pre-op evaluation with scalp video-EEG recording, MRI and PET-FDG suggesting that the patient could be a good candidate for epilepsy surgery;\n4. Recent scalp EEG record (within 12 months) showing the presence of interictal spikes;\n5. High-quality and recent (within 6 months) structural MRI with 3D-T1 sequences covering the whole brain and the scalp available.\n\nExclusion Criteria:\n\n1. Behavioral deficits making recording of scalp EEG impossible without sedation;\n2. Informed consent form not signed by the parents;\n3. Patient not affiliated to a social security system","2 Years",{"count":207,"type":21},120,[24],"This study investigates the usefulness of high resolution electrical source imaging (HR-ESI) in the setting of presurgical evaluation of drug-resistant focal epilepsy in children.\n\nThis method is based on an estimation of the intra-cerebral source that produces a signal recorded by scalp electrodes by solving the inverse problem, taking into account attenuation factors resulting from particular conductivity properties of the cerebral, peri-cerebral and cranial tissues.\n\nElectrical sources are then fused on structural magnetic resonance imaging (MRI).\n\nScalp EEG recorded using 64 to 256 electrodes refers to as high resolution EEG (HR-EEG), leading to HR-ESI.\n\nStudies based on small population of children or on mixt population of children and adults showed that HR-ESI has accuracy values, i.e. percentage of true positives (electrical source localized in the brain area resected and success of surgery) and true negatives (electrical source localized outside the brain area resected and failure of surgery) among the total population, ranging from 50 to 80%.\n\nDiscrepancies between studies could be explained by the limited number of patients included or by the mixture of pediatric and adult data.\n\nAnother limitation of previously published studies is that the spatial pattern of dipole source distribution was not taken into account to determine prediction accuracy of ESI.\n\nStudies using magnetoencephalography (MEG) to perform magnetic source imaging (MSI) suggest that the spatial pattern of dipole source distribution needs to be considered, a spatially-restricted dipole distribution being associated with better post-surgical outcome when resected.\n\nTo tackle these issues, the investigators aim to conduct the first large prospective multicentric study in children with focal epilepsy candidates to surgery to assess prediction accuracy of ESI based on the finding of tight clusters of dipoles.\n\nThis is original as this pattern (tight versus loose cluster of dipoles) has been studied by several researchers using MEG but not using HR-EEG.\n\nThe investigators make the hypothesis that HR-EEG will allow to identity good candidates for epilepsy surgery and thus to offer this underutilized treatment in more children with better post-surgical outcome.\n\nAmong the secondary objectives, the investigators will address methodological issues related to the resolution of the inverse problem (methods using distributed sources models versus methods based on equivalent dipole estimation), the potential added value to model high-frequency oscillations (HFO), and the investigators will assess the cost-utility of the HR-ESI procedure.",[27],"2025-09-15",{"date":213,"type":40},"2025-09-19",{"date":215,"type":40},"2024-05-15",{"date":217,"type":21},"2026-11-15",{"name":219,"class":220},"University Hospital, Angers","OTHER_GOV",9,{"id":223,"slug":224,"hasResults":11,"nctId":225,"briefTitle":226,"officialTitle":226,"acronym":4,"eligibilityCriteria":227,"healthyVolunteers":11,"sex":16,"minAge":92,"maxAge":228,"enrollmentInfo":229,"targetDuration":4,"studyType":95,"phases":4,"briefSummary":231,"conditions":232,"keywords":237,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":240,"lastUpdatePostDateStruct":241,"startDateStruct":243,"completionDateStruct":245,"leadSponsor":247,"locationsCount":122},"100590462","registry-and-natural-history-of-epilepsy-dyskinesia-syndromes-100590462","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","30 Years",{"count":230,"type":21},700,"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.",[233,137,234,235,236,27,133,103,102,134,135,136,138,104],"Epilepsy-Dyskinesia","Dyskinesia","EDS","Epilepsy-Dyskinesia Syndomes",[33,233,238,234,141,142,143,144,145,150,146,147,148,149,151,152,153,154,155,239],"Epilepsy-Dyskinesia Syndrome","ADCY5","2025-08-15",{"date":242,"type":40},"2025-08-17",{"date":244,"type":40},"2025-06-01",{"date":246,"type":21},"2030-07",{"name":121,"class":47},{"id":249,"slug":250,"hasResults":11,"nctId":251,"briefTitle":252,"officialTitle":253,"acronym":254,"eligibilityCriteria":255,"healthyVolunteers":11,"sex":16,"minAge":256,"maxAge":257,"enrollmentInfo":258,"targetDuration":4,"studyType":95,"phases":4,"briefSummary":260,"conditions":261,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":263,"lastUpdatePostDateStruct":264,"startDateStruct":266,"completionDateStruct":268,"leadSponsor":270,"locationsCount":48},"100507304","effect-of-sulthiame-on-eeg-in-childhood-epilepsy-syndromes-100507304","NCT05885646","Effect of Sulthiame on EEG in Childhood Epilepsy Syndromes","Treatment of Epilepsy Syndromes of Childhood With Sleep Activation Using Sulthiame: an Exploratory Study of the Short Term Effect on EEG","SURF","Inclusion Criteria:\n\n* Diagnosis of epilepsy syndromes of childhood with sleep activation\n* Failure of at least two anti-epileptic drugs (AED)\n* Sleep EEG performed in the last 7 days before inclusion and showing interictal epileptiform discharges (baseline EEG)\n\nExclusion Criteria:\n\n* Previous trial with sulthiame\n* More than 2 AED at inclusion\n* Use of corticosteroids at inclusion\n* Change in the anti-epileptic treatment in the 7 days before baseline EEG","6 Years","15 Years",{"count":259,"type":21},15,"The effect of sulthiame on EEG has been studied in epilepsy syndromes of childhood with sleep activation by comparing sleep EEG obtained at baseline and after 4 weeks of treatment. The aim of the study is to know if an effect is still identifiable after 2 weeks of treatment by performing sleep EEG recordings after 2 and 4 weeks of treatment, respectively.",[262,27],"Importance of Interictal Epileptiform Activity on Sleep EEG","2025-06-12",{"date":265,"type":40},"2025-06-15",{"date":267,"type":40},"2023-10-17",{"date":269,"type":21},"2025-12-01",{"name":219,"class":220},{"id":272,"slug":273,"hasResults":11,"nctId":274,"briefTitle":275,"officialTitle":275,"acronym":276,"eligibilityCriteria":277,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":56,"enrollmentInfo":278,"targetDuration":4,"studyType":95,"phases":4,"briefSummary":280,"conditions":281,"keywords":282,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":286,"lastUpdatePostDateStruct":287,"startDateStruct":289,"completionDateStruct":291,"leadSponsor":293,"locationsCount":122},"100531682","mapping-epileptic-networks-using-multimodal-imaging-100531682","NCT06202976","Mapping Epileptic Networks Using Multimodal Imaging","CREIM","Inclusion Criteria:\n\n* Be under 18 years of age on the day of inclusion.\n* Present with one of the following forms of epilepsy:\n\n  * refractory focal lesional epilepsy\n  * rare non-lesional epilepsy\n* Present abnormalities (spikes) on the intercritical EEG\n* Have been selected by the \"Epilepsy\" multidisciplinary staff.\n* In the case of refractory lesional epilepsy, be required to perform an EEG-video recording using intracranial electrodes (SEEG) as part of the pre-surgical workup.\n* Be affiliated to a health insurance scheme.\n\nExclusion Criteria:\n\n* Requiring general anesthesia for MRI\n* Require sedation specifically for research\n* Have generalized epilepsy\n* Be deprived of liberty or under guardianship.",{"count":279,"type":21},75,"Currently, mapping the epileptogenic zone is based on a comprehensive preoperative assessment involving clinical, imaging and electrophysiological examinations.\n\nTo reduce the need for invasive stereoelectroencephalography (SEEG) explorations, electrophysiological and imaging methods have been developed, such as resting-state functional MRI (fMRI) coupled with electroencephalogram and arterial spin-labeling perfusion MRI (ASL-MRI).\n\nIt has been published that these new methods enable precise delineation of the epileptogenic zone and better preparation for surgery.\n\nThe aim is to determine whether, in children with focal lesional epilepsy, the combination of ASL-MRI-EEG and resting-state fMRI-EEG enables precise identification of the epileptogenic zone to be defined by SEEG, the current reference examination.",[27],[283,284,285],"Focal Epilepsy","Lesional Epilepsy","Nonlesional Epilepsy","2025-04-14",{"date":288,"type":40},"2025-04-17",{"date":290,"type":40},"2017-09-14",{"date":292,"type":21},"2033-09-13",{"name":294,"class":47},"Imagine Institute",{"id":296,"slug":297,"hasResults":11,"nctId":298,"briefTitle":299,"officialTitle":300,"acronym":4,"eligibilityCriteria":301,"healthyVolunteers":11,"sex":16,"minAge":256,"maxAge":302,"enrollmentInfo":303,"targetDuration":4,"studyType":22,"phases":305,"briefSummary":306,"conditions":307,"keywords":308,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":311,"lastUpdatePostDateStruct":312,"startDateStruct":314,"completionDateStruct":316,"leadSponsor":318,"locationsCount":122},"100578616","effect-of-cognitive-behavioral-play-intervention-and-epilepsy-100578616","NCT06813612","Effect of Cognitive Behavioral Play Intervention and Epilepsy","The Effects of Cognitive Behavioral Play Intervention on the Quality of Life of Children With Childhood-onset Epileptic Syndromes.\"","For the purposes of the study, children aged between 6 and 10 years, of both sexes, will be recruited.\n\n\\- inclusion criteria Children diagnosed with the following types of epilepsy will be included: childhood self-limiting focal epilepsy (SeLFE); childhood absence epilepsy (CAE); self-limiting centrotemporal paroxysmal epilepsy (SeLECTS); self-limiting epilepsy with autonomic seizures (SeLEAS); childhood occipital epilepsy (COVE); photosensitive occipital lobe epilepsy (POLE).\n\nExclusion criteria:\n\n* Children with epilepsy in comorbidity with cognitive disabilities (the relevant cognitive disabilities must be specified with IQ scores)\n* reduced visual or expressive hearing acuity (visually impaired or deaf) will be excluded.","10 Years",{"count":304,"type":21},52,[24],"The goal of this clinical trial is to assess the effectiveness of Cognitive Behavioral Play Therapy interventions in patients with epilepsy.\n\nChildren with epilepsy will be randomly assigned to one of two intervention conditions: the experimental group will receive cognitive-behavioral play intervention, while the control group will engage in free play. Assessments will be done at the start (T0) and end (T1) of the intervention, measuring behaviors, coping strategies, positive thinking, problem-solving, and quality of life.",[137,27],[33,309,310],"psychology","cognitive behavioral play therapy","2025-02-03",{"date":313,"type":40},"2025-02-07",{"date":315,"type":40},"2024-10-07",{"date":317,"type":21},"2026-10",{"name":319,"class":47},"IRCCS National Neurological Institute \"C. Mondino\" Foundation",{"id":321,"slug":322,"hasResults":11,"nctId":323,"briefTitle":324,"officialTitle":324,"acronym":4,"eligibilityCriteria":325,"healthyVolunteers":11,"sex":16,"minAge":326,"maxAge":56,"enrollmentInfo":327,"targetDuration":4,"studyType":95,"phases":4,"briefSummary":329,"conditions":330,"keywords":4,"overallStatus":186,"whyStopped":4,"lastUpdateSubmitDate":332,"lastUpdatePostDateStruct":333,"startDateStruct":335,"completionDateStruct":337,"leadSponsor":339,"locationsCount":4},"100562392","the-mosaic-brain-a-new-diagnostic-approach-in-focal-epilepsies-100562392","NCT06602570","The Mosaic Brain: a New Diagnostic Approach in Focal Epilepsies","Inclusion Criteria:\n\n* Children in the epilepsy surgery pathway at Great Ormond Street Hospital (GOSH) with a clear or suspected MRI lesion.\n* All children undergoing SEEG at GOSH. Children for which consent was obtained from themselves or, if appropriate, from their legal representatives.\n* Children in whom there are no clinical contraindication to having a lumbar puncture procedure pre-surgery.\n* Both sexes.\n* Under the age of 18.\n\nExclusion Criteria:\n\n* Children that although undergoing epilepsy treatment or testing for an ischaemic lesion.\n* Children with malignant brain tumours.\n* Children in whom there are contraindications to performing a lumbar puncture procedure.","6 Months",{"count":328,"type":21},40,"Overall, this observational cohort study aims to:\n\n1. Improve our understanding of the genetic architecture of childhood focal epilepsies.\n2. Develop a liquid biopsy of cerebrospinal fluid (CSF) and assess feasibility to detect cerebral mosaicism using cell-free DNA (cfDNA) analysis and evaluate its performance against brain tissue on the panel testing.\n3. Develop a methodology to use trace tissue from Stereoelectroencephalography (SEEG) DNA and assess feasibility to detect cerebral mosaicism and evaluate its performance against brain tissue on the panel testing.\n\n3\\. Validate the use of the liquid biopsy and SEEG trace tissue for use in the English National Health Service clinical services and share with other Genomic Laboratory Hubs.",[331,27],"Epilepsy Intractable","2024-09-17",{"date":334,"type":40},"2024-09-19",{"date":336,"type":21},"2024-10-01",{"date":338,"type":21},"2026-09-01",{"name":340,"class":47},"Institute of Child Health",{"id":342,"slug":343,"hasResults":11,"nctId":344,"briefTitle":345,"officialTitle":346,"acronym":347,"eligibilityCriteria":348,"healthyVolunteers":11,"sex":16,"minAge":205,"maxAge":349,"enrollmentInfo":350,"targetDuration":4,"studyType":95,"phases":4,"briefSummary":351,"conditions":352,"keywords":4,"overallStatus":186,"whyStopped":4,"lastUpdateSubmitDate":353,"lastUpdatePostDateStruct":354,"startDateStruct":356,"completionDateStruct":358,"leadSponsor":360,"locationsCount":4},"100558076","oasis-retrospective-analysis-on-eegs-for-identifying-seizure-susceptibility-in-paediatrics-using-biomarkers-100558076","NCT06546410","OASIS: RetrOspective Analysis on EEGs for Identifying Seizure Susceptibility in paediatrIcs Using biomarkerS","A Retrospective Multisite Analysis of Routinely Collected Outpatient EEGs for Identifying Seizure Susceptibility in Paediatric Epilepsy Using Computational Biomarkers.","OASIS","Inclusion Criteria:\n\n* ≥2-\\\u003C18 years age.\n* Patients who have had a confirmed epilepsy diagnosis for ≥1+ year.\n* Non contributary first EEG: including routine EEG, sleep EEG (natural, melatonin induced, sleep deprived), 24-hour ambulatory EEG.\n* Patients who have been diagnosed with a self-limited and or focal epilepsy \\[\\*\\] who have had a first non-contributary (no IEDS present, negative) outpatient EEG.\n* Patients who have been diagnosed with idiopathic generalised epilepsy \\[†\\] who have had a first non-contributary (no IEDS present, negative) routine EEG.\n* Neurodiverse patients with epilepsy can be included in the study \\[‡\\]\n* Patients with epilepsy and co-morbidities can be included in the study (anxiety, mood disorders etc)\n* Controls should be EEGs taken from patients who have been referred for a paroxysmal disorder, received an EEG as part of their diagnostic work up and subsequently received an alternate diagnosis. Epilepsy should have been excluded from their differential diagnosis and the alternate diagnosis should have remained stable for ≥1+ year.\n\nExclusion Criteria:\n\n* Developmental and\u002For epileptic encephalopathies \\[§\\]\n* Patients with global development delay of unknown origin.\n* Patients with profound and multiple intellectual disabilities\n* Participants with a known hepatic\u002Frenal encephalopathy.\n* Patient diagnosed with possible NEAD and epilepsy (dual diagnosis).\n* Participants taking part in another Clinical Trial of an Investigational Medicinal Product (CTIMP) (qualitative\u002Fobservational studies are acceptable).\n* Patients with any breaches of skull (plates, burr holes, shrapnel).","16 Years",{"count":130,"type":21},"The goal of this retrospective study is to validate a set of computational biomarkers (BioEP) for seizure susceptibility on retrospective routinely collected non-contributory EEGs in paediatric participants with epilepsy. The main objectives are:\n\nPrimary:\n\nTo validate a set of computational biomarkers (BioEP) for seizure susceptibility on retrospective routinely collected non-contributory EEGs in paediatric participants with epilepsy.\n\nSecondary:\n\nTo examine whether the use of BioEP could support a more efficient patient pathway to diagnosis (thus adding economic value), by reducing time to final diagnosis and\u002For the number of clinical appointments needed",[137,27],"2024-08-06",{"date":355,"type":40},"2024-08-09",{"date":357,"type":21},"2025-01-01",{"date":359,"type":21},"2026-01-01",{"name":361,"class":362},"Neuronostics Ltd","INDUSTRY",{"id":364,"slug":365,"hasResults":11,"nctId":366,"briefTitle":367,"officialTitle":368,"acronym":369,"eligibilityCriteria":370,"healthyVolunteers":11,"sex":16,"minAge":371,"maxAge":18,"enrollmentInfo":372,"targetDuration":4,"studyType":95,"phases":4,"briefSummary":374,"conditions":375,"keywords":376,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":377,"lastUpdatePostDateStruct":378,"startDateStruct":380,"completionDateStruct":382,"leadSponsor":384,"locationsCount":122},"100554382","the-new-place-of-levetiracetam-in-the-management-of-status-epilepticus-in-children-100554382","NCT06498362","The \"New\" Place of LEVETIRACETAM in the Management of Status Epilepticus in Children","The \"New\" Place of LEVETIRACETAM in the Management of Status Epilepticus in Children: Multicenter Retrospective Study on 151 Children Over Three Months Old","LEVET","Inclusion Criteria:\n\n* Minor patient aged 3 months to 17 years\n* 2nd line treatment with LEVETIRACETAM or PHENYTOIN after failure of benzodiazepines\n* Supported in one of the participating centers during the period from November 1, 2019 to May 31, 2023\n* Subject or parents who have not expressed, after information, their opposition to the reuse of their data for the purposes of this research.\n\nExclusion Criteria:\n\n* Patient or parents having expressed their opposition to participating in the study.","3 Months",{"count":373,"type":21},151,"Status epilepticus is the leading neurological emergency in children, with mortality 2-7% and significant morbidity (10-20%). It is defined as the occurrence of a crisis lasting more than 5 minutes and requiring the implementation of treatment to stop it and thus limit the immediate and long-term consequences.\n\nThe research hypothesis is that LEVETIRACETAM is non-inferior to PHENYTOIN in terms of cessation and absence of recurrence of status epilepticus, with better clinical tolerance in children from 3 months to 17 years old, with or without epileptic disease, with or without a history of status epilepticus",[27],[137,27],"2024-07-04",{"date":379,"type":40},"2024-07-12",{"date":381,"type":40},"2023-11-16",{"date":383,"type":21},"2025-05-16",{"name":195,"class":47},{"id":386,"slug":387,"hasResults":11,"nctId":388,"briefTitle":389,"officialTitle":390,"acronym":4,"eligibilityCriteria":391,"healthyVolunteers":11,"sex":16,"minAge":392,"maxAge":393,"enrollmentInfo":394,"targetDuration":4,"studyType":95,"phases":4,"briefSummary":396,"conditions":397,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":399,"lastUpdatePostDateStruct":400,"startDateStruct":402,"completionDateStruct":404,"leadSponsor":405,"locationsCount":122},"100550211","the-incidence-and-risk-factors-of-recurrent-febrile-seizures-and-epilepsy-following-febrile-seizures-100550211","NCT06444126","The Incidence And Risk Factors Of Recurrent Febrile Seizures And Epilepsy Following Febrile Seizures","A Prospective Cohort Study Of The Incidence And Risk Factors Of Recurrent Febrile Seizures And Epilepsy Following Febrile Seizures","Inclusion Criteria:\n\n* Children had a diagnosis of first febrile seizure based on the definition of the International League Against Epilepsy (ILAE) in 1993. That was a seizure occurring in childhood after one month of age associated with a febrile illness not caused by an infection of the central nervous system, without previous neonatal seizures or a previous unprovoked seizure, and not meeting the criteria for other acute symptomatic seizures. Fever is clinically a temperature of at least 38°C by any method as recorded either in the emergency department, outpatient clinics, or as noted in the medical history, as well as measured upon admission to the inpatient departments.\n* Patients were between 1 month and 8 years of age\n* Agreement from parents with written informed consent\n\nExclusion Criteria:\n\n* Febrile paroxysmal events were atypical for seizures\n* Underlying neurological conditions that increase the likelihood of epilepsy\n* Unwillingness to return for follow-up","1 Month","8 Years",{"count":395,"type":21},650,"The goal of this observational study is to learn about the recurrence and development of epilepsy in children hospitalized with their first febrile seizures. The main questions it aims to answer are:\n\n* What is the risk of recurrence after the first febrile seizure and what are the risk factors for recurrent febrile seizures in Vietnamese children?\n* What is the risk of developing epilepsy later in life and what are the risk factors for developing epilepsy in Vietnamese children who have had febrile seizures?",[398,27],"Febrile Seizures","2024-06-06",{"date":401,"type":40},"2024-06-10",{"date":403,"type":40},"2023-03-15",{"date":211,"type":21},{"name":406,"class":47},"Pham Ngoc Thach University of Medicine"]