Reference : De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epilepti...
Scientific journals : Article
Human health sciences : Multidisciplinary, general & others
http://hdl.handle.net/10993/27271
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with dravet syndrome
English
Suls, A.[Neurogenetics group, Department of Molecular Genetics, VIB, 2610 Antwerp, Belgium, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium]
Jaehn, J. A.[University Medical Center Schleswig-Holstein, Christian-Albrechts University, 24105 Kiel, Germany]
Kecskés, A.[Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, 3000 Leuven, Belgium]
Weber, Y.[Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany]
Weckhuysen, S.[Neurogenetics group, Department of Molecular Genetics, VIB, 2610 Antwerp, Belgium, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium]
Craiu, D. C.[Pediatric Neurology Clinic 2, Departments of Neurology, Pediatric Neurology, 050474 Bucharest, Romania, Pediatric Neurology Clinic, 041914 Bucharest, Romania]
Siekierska, A.[Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, 3000 Leuven, Belgium]
Djémie, T.[Neurogenetics group, Department of Molecular Genetics, VIB, 2610 Antwerp, Belgium, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium]
Afrikanova, T.[Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, 3000 Leuven, Belgium]
Gormley, P.[Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, United Kingdom]
Von Spiczak, S.[University Medical Center Schleswig-Holstein, Christian-Albrechts University, 24105 Kiel, Germany]
Kluger, G.[Neuropädiatrie und Neurologische Rehabilitation, Epilepsiezentrum für Kinder und Jugendliche, Tagesklinik für Neuropädiatrie, 83569 Vogtareuth, Germany]
Iliescu, C. M.[Pediatric Neurology Clinic 2, Departments of Neurology, Pediatric Neurology, 050474 Bucharest, Romania, Pediatric Neurology Clinic, 041914 Bucharest, Romania]
Talvik, T.[Department of Pediatrics, University of Tartu, 51014 Tartu, Estonia, Department of Neurology and Neurorehabilitation, Children's Clinic, Tartu University Hospital, 50406 Tartu, Estonia]
Talvik, I.[Department of Pediatrics, University of Tartu, 51014 Tartu, Estonia, Department of Neurology and Neurorehabilitation, Children's Clinic, Tartu University Hospital, 50406 Tartu, Estonia]
Caglayan, H. S.[Department of Molecular Biology and Genetics, Bogazici University, 34342 Istanbul, Turkey]
Giraldez, B. G.[Epilepsy Unit, Hospital Universitario Fundación Jiménez Diaz, Centro De Investigación Biomédica En Red De Enfermedades Raras, 28040 Madrid, Spain]
Serratosa, J.[Epilepsy Unit, Hospital Universitario Fundación Jiménez Diaz, Centro De Investigación Biomédica En Red De Enfermedades Raras, 28040 Madrid, Spain]
Lemke, J. R.[Division of Human Genetics, University Children's Hospital Inselspital, 3010 Bern, Switzerland]
Hoffman-Zacharska, D.[Department of Medical Genetics, Institute of Mother and Child, 01211 Warsaw, Poland]
Szczepanik, E.[Clinic of Neurology of Child and Adolescents, Institute of Mother and Child, 01211 Warsaw, Poland]
Barisic, N.[Department of Paediatrics, University of Zagreb School of Medicine, University Hospital Centre Zagreb, 10000 Zagreb, Croatia]
Hjalgrim, H.[Danish Epilepsy Centre, 4293 Dianalund, Denmark, Institute for Regional Health research, University of Southern Denmark, 5230 Odense, Denmark]
Møller, R. S.[Danish Epilepsy Centre, 4293 Dianalund, Denmark]
Linnankivi, T.[Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Central Hospital, 00029 Helsinki, Finland]
Dimova, P.[Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, 1113 Sofia, Bulgaria]
Striano, P.[Pediatric Neurology and Muscular Diseases Unit, Departments of Neurosciences, Genetics, and Maternal and Child Health, 16147 Genova, Italy]
Zara, F.[Laboratory of Neurogenetics, Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, 16147 Genova, Italy]
Marini, C.[Pediatric Neurology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50132 Florence, Italy]
Guerrini, R.[Pediatric Neurology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50132 Florence, Italy]
Depienne, C.[Institut National de la Santé et de la Recherche Médicale U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, 75013 Paris, France, Centre National de la Recherche Scientifique 7225, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, 75013 Paris, France, Département de Génétique et de Cytogéné tique, Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire, Assistance Publique - Hôpitaux de Paris, 75013 Paris, France]
Baulac, S.[Institut National de la Santé et de la Recherche Médicale U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, 75013 Paris, France, Centre National de la Recherche Scientifique 7225, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, 75013 Paris, France, Université Pierre et Marie Curie (Paris VI), 75013 Paris, France]
Kuhlenbäumer, G.[Department of Neurology, Institute of Experimental Medicine, Christian-Albrechts University of Kiel, 24105 Kiel, Germany]
Lehesjoki, A.-E.[Folkhälsan Institute of Genetics, 00290 Helsinki, Finland, Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland, Neuroscience Center, University of Helsinki, 00290 Helsinki, Finland]
De Witte, P. A. M.[Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, 3000 Leuven, Belgium]
Palotie, A.[Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, United Kingdom, Institute for Molecular Medicine Finland, University of Helsinki, 00290 Helsinki, Finland, Program inMedical and Population Genetics and Genetic Analysis Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States]
Lerche, H.[Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany]
Esguerra, C. V.[Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, 3000 Leuven, Belgium]
De Jonghe, P.[Neurogenetics group, Department of Molecular Genetics, VIB, 2610 Antwerp, Belgium, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium]
Helbig, I.[University Medical Center Schleswig-Holstein, Christian-Albrechts University, 24105 Kiel, Germany]
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