Genetics of rare epilepsy syndromes (RES)
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This CRP aims to decipher the genetic basis of many Rare Epilepsy Syndromes (RES) by bringing together the expertise of epileptologists with access to large patient cohorts and molecular genetics teams with a vast experience in locus and gene identification.
Collectively, this team of researchers will recruit the largest cohort of patients with RES to date and, for the first time, collect comprehensive clinical, electrophysiological and genealogical data in a standardized way. Novel genes for seizure disorders will be identified using broad range of technologies including large-scale CNV analysis and next-generation sequencing techniques. These technologies will be applied in a systematic genetic workflow to streamline analysis efficiency. Finally, genotype-phenotype correlation will be performed to identify novel disease entities based on genetic findings.
PROJECT LEADER:
Professor Peter De Jonghe, VIB Department of Molecular Genetics, University of Antwerp, Belgium
PRINCIPAL INVESTIGATORS:
Professor S. Hande Çağlayan, Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey
Professor Dana Craiu, Pediatric Neurology Clinic, Alexandru Obregia Hospital, “Carol Davila” University of Medicine, Bucharest, Romania
Professor Ingo Helbig, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany
Dr Dorota Hoffman-Zacharska, Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Dr Johannes Lemke, Department of Human Genetics, University of Bern Children’s Hospital (Inselspital), Switzerland
Professor Felix Rosenow, Department of Neurology, Epilepsy Center Hessen, Philipps-University Marburg and University Hospitals Marburg and Giessen, Germany
Dr Kaja Kristine Selmer, Department of Medical Genetics, Oslo University Hospital, Norway
Professor José Serratosa, Servicio de Neurologia, Hospital Universitario Fundación Jiménez Díaz, Universidad Autonoma de Madrid, The Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid, Spain
Professor Tiina Talvik, Department of Paediatrics, Tartu University Hospital, Estonia
ASSOCIATED PARTNERS:
Prof. Nina Barisic, Department of Paediatrics, University Hospital Centre Zagreb, Croatia
Prof. Helle Hjalgrim, Danish Epilepsy Centre and Institute of Regional Health Services Research, University of Southern Denmark, Dianalund, Denmark
Professor Holger Lerche, Abt. Neurologie mit Schwerpunkt Epileptologie, Hertie Institut für Klinische Hirnforschung, Universitätsklinikum Tübingen, Germany
Dr Heather Mefford, Department of Pediatrics, University of Washington, Seattle, United States
Professor Aarno Palotie, Wellcome Trust Sanger Institute, Cambridge, United Kingdom, and Finnish Institute for Molecular Medicine (FIMM), Helsinki, Finland
Professor Niels Tommerup, Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark
