[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100277385":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":20,"centralContacts":29,"locations":38,"responsibleParty":60,"collaborators":10,"id":62,"slug":63,"hasResults":64,"nctId":65,"briefTitle":66,"officialTitle":10,"acronym":67,"eligibilityCriteria":68,"healthyVolunteers":64,"sex":69,"minAge":70,"maxAge":71,"enrollmentInfo":72,"targetDuration":10,"studyType":75,"phases":10,"briefSummary":76,"conditions":77,"keywords":79,"overallStatus":41,"whyStopped":10,"lastUpdateSubmitDate":90,"lastUpdatePostDateStruct":91,"startDateStruct":94,"completionDateStruct":96,"leadSponsor":98,"locationsCount":99},{"fullName":5,"class":6},"Fondation Ophtalmologique Adolphe de Rothschild","NETWORK",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Children undergoing epilepsy surgery at the Rothschild Foundation, Paris.",null,"Sequencing of paired blood-brain DNA samples, SEEG electrodes",[13],"Genetic: Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)",[15],{"type":16,"name":17,"description":18,"armGroupLabels":19,"otherNames":10},"GENETIC","Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)","Sampling of blood, frozen resected tissue, saliva, and cerebrospinal fluid (CSF); sequencing of paired blood-brain DNA samples, SEEG electrodes",[9],[21,25],{"name":22,"affiliation":23,"role":24},"Mathilde CHIPAUX, MD, PhD","Fondation A de Rothschild","PRINCIPAL_INVESTIGATOR",{"name":26,"affiliation":27,"role":28},"Stéphanie BAULAC, PhD","Institut du Cerveau","STUDY_CHAIR",[30,35],{"name":31,"role":32,"phone":33,"phoneExt":10,"email":34},"Amelie YAVCHITZ, MD","CONTACT","+33 1 48 03 64 54","ayavchitz@for.paris",{"name":22,"role":32,"phone":36,"phoneExt":10,"email":37},"+33 1 48 03 69 43","mchipaux@for.paris",[39],{"facility":40,"status":41,"city":42,"state":10,"zip":43,"country":44,"countryCode":45,"cosmosGeoPoint":46,"geoPoint":51,"contacts":52},"Fondation Ophtalmologique Adolphe de Rothschld","RECRUITING","Paris","75019","France","FR",{"type":47,"coordinates":48},"Point",[49,50],2.3488,48.85341,{"lat":50,"lon":49},[53,56,57],{"name":54,"role":32,"phone":55,"phoneExt":10,"email":37},"Mathilde Chipaux, MD, Phd","+33148036943",{"name":22,"role":24,"phone":10,"phoneExt":10,"email":10},{"name":58,"role":59,"phone":10,"phoneExt":10,"email":10},"Stéphanie Baulac, PhD","SUB_INVESTIGATOR",{"type":61,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100277385","genetic-and-electrophysiologic-study-in-focal-drug-resistant-epilepsies-100277385",false,"NCT02890641","Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies","GENEPHY","Inclusion Criteria:\n\n* Children with focal drug-resistant epilepsy including Focal Cortical Dysplasia, Hemimegalencephaly, Tuberous Sclerosis, Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), Hypothalamic Hamartomas, Sturge-Weber syndrome, Rasmussen encephalitis, gliomas\n* Their parents who have signed informed consent 1) for their child's participation (for parents) and 2) for themselves\n* Social security coverage or foreign regime recognized in France\n\nExclusion Criteria:\n\n* refusal to participate in the study\n* contraindication to anaesthesia, to MRI or to surgery\n* no medical insurance coverage","ALL","3 Months","25 Years",{"count":73,"type":74},450,"ESTIMATED","OBSERVATIONAL","Brain somatic mutations are increasingly recognized as a major cause of focal epilepsies. These include mTOR pathway mutations underlying cortical malformations such as focal cortical dysplasia and hemimegalencephaly, and SLC35A2 mutations in MOGHE, and activating variants in the SHH pathway in hypothalamic hamartomas.\n\nThis study aims to identify brain somatic mutations using paired blood-brain samples and trace DNA from stereo-EEG electrodes, and to perform functional validation of candidate variants in children with drug-resistant focal epilepsy.",[78],"Drug-resistant Focal Epilepsies in Pediatric Population",[80,81,82,83,84,85,86,87,88,89],"Focal Cortical Dysplasia","Cortical Malformation","Hemimegalencephaly","Tuberous sclerosis","Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)","Hypothalamic hamartomas","Refractory Focal Epilepsy","Rasmussen Encephalitis","Epilepsy Surgery","Struge-Weber Syndrome","2026-04-14",{"date":92,"type":93},"2026-04-17","ACTUAL",{"date":95,"type":93},"2015-12-17",{"date":97,"type":74},"2031-12",{"name":5,"class":6},1]