Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Keren B."'
Autor:
Parthasarathy S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Gelot A; AP-HP, Hôpital Armand-Trousseau, Service d'Anatomie Pathologique, 75012 Paris, France; INMED INSERM U 901 Parc Scientifique de Luminy, 13273 Marseille, France; Centre de Recherche Clinique ConCer-LD, Paris, France., Soardi FC; GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil; Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil., Ribeiro BFR; Secretaria Estadual de Saúde do Estado do Acre, Rio Branco, AC, Brazil., Pires DEV; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia; Systems and Computational Biology, Bio21 Institute, University of Melbourne, 30 Flemington Rd, Parkville, VIC 3052, Australia; School of Computing and Information Systems, University of Melbourne, Melbourne, VIC 3053, Australia., Ascher DB; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia; Systems and Computational Biology, Bio21 Institute, University of Melbourne, 30 Flemington Rd, Parkville, VIC 3052, Australia; School of Chemistry and Molecular Biology, University of Queensland, St Lucia, QLD 4072, Australia., Schmitt A; INSERM U 1016, Institut Cochin, Paris, France; CNRS UMR 8104, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France., Rambaud C; AP-HP, Hôpital Raymond-Poincaré, Laboratoire Anatomie Pathologique, Garches, France., Represa A; INMED, INSERM, Aix-Marseille Université, Campus de Luminy, 13009 Marseille, France., Xie HM; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Lusk L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Wilmarth O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McDonnell PP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Juarez OA; Baylor College of Medicine Genetics Clinic, Children's Hospital of San Antonio, San Antonio, TX, USA., Grace AN; Baylor College of Medicine Genetics Clinic, Children's Hospital of San Antonio, San Antonio, TX, USA., Buratti J; AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France., Mignot C; AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, 75013 Paris, France; AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris, France., Gras D; AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris, France., Nava C; AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, 75013 Paris, France; AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris, France., Pierce SR; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Keren B; AP-HP, Hôpital de la Pitié Salpêtrière, Département de Génétique, 75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, 75013 Paris, France; AP-HP, Hôpital Robert Debré, Service de Neurologie Pediatrique et de Maladies Métaboliques, 75019 Paris, France., Kennedy BC; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA; Department of Neurosurgery, The University of Pennsylvania, Philadelphia, PA 19104, USA., Pena SDJ; GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brazil; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil; Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Cuddapah VA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: cuddapahv@chop.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 Dec 01; Vol. 109 (12), pp. 2253-2269. Date of Electronic Publication: 2022 Nov 21.
Autor:
Loussouarn A; APHP-Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Armand Trousseau, Paris, France. Electronic address: anna.loussouarn@aphp.fr., Doummar D; APHP-Sorbonne Université, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France; Centre de Référence Neurogénétique, Paris, France., Beaugendre Y; APHP-Sorbonne Université, Département de Neurophysiologie, Hôpital Saint-Antoine, Assistance Publique des Hôpitaux de Paris, Paris, France., Bienvenu T; APHP-Centre Université de Paris, Service de génétique et biologie moléculaires, Hôpital Cochin, Assistance Publique des Hôpitaux de Paris, Paris, France; INSERM UMR1266, Institut de Psychiatrie et de Neurosciences de Paris, Paris, France., Charles P; APHP-Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Armand Trousseau, Paris, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147 Essen, Germany., Dorison N; APHP-Sorbonne Université, Service de neurochirurgie, Hôpital Fondation Adolphe de Rothschild, Assistance Publique des Hôpitaux de Paris, Paris, France., Heide S; APHP-Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Armand Trousseau, Paris, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Héron D; APHP-Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Armand Trousseau, Paris, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Ioos C; APHP-Sorbonne Université, Service de neurologie et réanimation pédiatrique, Hôpital Raymond Poincaré, Assistance Publique des Hôpitaux de Paris, Paris, France., Keren B; APHP-Sorbonne Université, Département de génétique, Hôpital de la Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, Paris, France., Métreau J; APHP-Sorbonne Université, Service de neuropédiatrie, Hôpital du Kremlin-Bicêtre, Assistance Publique des Hôpitaux de Paris, Paris, France., Mochel F; APHP-Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Armand Trousseau, Paris, France; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France., Moutard ML; APHP-Sorbonne Université, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France; Centre de Référence Neurogénétique, Paris, France., Ravelli C; APHP-Sorbonne Université, Service de Neuropédiatrie, Hôpital Armand Trousseau, Paris, France; Centre de Référence Neurogénétique, Paris, France., Apartis E; APHP-Sorbonne Université, Département de Neurophysiologie, Hôpital Saint-Antoine, Assistance Publique des Hôpitaux de Paris, Paris, France., Mignot C; APHP-Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Armand Trousseau, Paris, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 Sep; Vol. 34, pp. 62-66. Date of Electronic Publication: 2021 Jul 03.
Autor:
Voisin N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland., Schnur RE; GeneDx, Gaithersburg, MD 20877, USA; Cooper Medical School of Rowan University, Division of Genetics, Camden, NJ 08103, USA., Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Rustad CF; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway., Brown NJ; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia., Earl DL; Seattle Children's, Seattle, WA 98105, USA., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France., Levchenko O; Research Centre for Medical Genetics, Moscow 115522, Russia., Geuer S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany., Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria., Johnson D; Sheffield Clinical Genetics Service, Sheffield S10 2TQ, UK., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA., Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic., Amor DJ; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia., Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Blatterer J; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria., Brusco A; Department of Medical Sciences, University of Torino, Torino 10126, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino 10126, Italy., Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy., Charrow J; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Chatron N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Genetics Department, Lyon University Hospital, Lyon 69007, France., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Courtin T; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France., Dadali E; Research Centre for Medical Genetics, Moscow 115522, Russia., Delafontaine J; Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland., Del Giudice E; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy., Doco M; Secteur Génétique, CHU Reims, EA3801, SFR CAPSANTE, 51092 Reims, France., Douglas G; GeneDx, Gaithersburg, MD 20877, USA., Eisenkölbl A; Department of Pediatrics and Adolescent Medicine, Johannes Kepler University, Kepler University Hospital Linz, Krankenhausstraße 26-30, 4020 Linz, Austria., Funari T; GeneDx, Gaithersburg, MD 20877, USA., Giannuzzi G; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland., Gruber-Sedlmayr U; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria., Guex N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Bioinformatics Competence Center, University of Lausanne, Lausanne 1015, Switzerland., Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Kronn D; New York Medical College, Valhalla, NY 10595, USA., Lavrov A; Research Centre for Medical Genetics, Moscow 115522, Russia., Lee C; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia., Lorrain S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Protein Analysis Facility, University of Lausanne, Lausanne 1015, Switzerland., Merckoll E; Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway., Mikhaleva A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland., Norman J; Integris Pediatric Neurology, Oklahoma City, OK 73112, USA., Pradervand S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy., Prchalová D; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic., Rhodes L; GeneDx, Gaithersburg, MD 20877, USA., Sanders VR; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic., Seebacher HA; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria., Sellars EA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA., Sirchia F; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy., Takenouchi T; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan., Tanaka AJ; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA., Taska-Tench H; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Tønne E; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Vitiello G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy., Vlčková M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic., Uehara T; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan., Nava C; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France., Yalcin B; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67404, France., Kosaki K; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan., Donnai D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK., Mundlos S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany., Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy., Chung WK; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland. Electronic address: alexandre.reymond@unil.ch.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 May 06; Vol. 108 (5), pp. 857-873.
Autor:
Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Zacher P; The Saxon Epilepsy Center Kleinwachau, Radeberg, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Babcock HE; Rare Disease Institute, Children's National Hospital, Washington, DC, USA., Bakker DP; Department of Child Neurology, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Barwick K; Institute of Child Health, University Collge London, London, UK., Bonfert MV; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU - University Hospital, Ludwig-Maximilians-Universität, Munich, Germany., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA., Clarke AJ; Division of Cancer & Genetics, School of Medicine, Cardiff University, Wales, UK., Devine P; Department of Pathology, University of California San Francisco, San Francisco, CA, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Fraser JL; Rare Disease Institute, Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA., Friedman J; Departments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children's Hospital, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Gates A; Department of Genetic Services, Kaiser Permanente Washington, Seattle, WA, USA., Ghoumid J; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Hobson E; Yorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, UK., Horvath G; Department of Pediatrics, Division of Biochemical Diseases, University of British Columbia, Vancouver, Canada., Keller-Ramey J; GeneDx, Gaithersburg, MD, USA., Keren B; APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France., Kurian MA; Institute of Child Health, University Collge London, London, UK., Lee V; Department of Neurology, University of California San Francisco, San Francisco, CA, USA., Leppig KA; Department of Genetic Services, Kaiser Permanente Washington, Seattle, WA, USA., Lundgren J; Institute of Clinical Sciences, Skane University Hospital, Lund, Sweden., McDonald MT; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., McLaughlin HM; Invitae Corporation, San Francisco, CA, USA., McTague A; Institute of Child Health, University Collge London, London, UK., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Mignot C; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et Hôpital Trousseau, APHP, Sorbonne Université, Paris, France., Mikati MA; Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Nava C; Sorbonne University, Paris Brain Institute, Inserm U1127, CNRS UMR 7225, AP-HP, Pitié Salpêtrière Hospital, Department of Genetics, Paris, France., Raymond FL; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Sampson JR; Division of Cancer & Genetics, School of Medicine, Cardiff University, Wales, UK., Sanchis-Juan A; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, UK., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Shieh JTC; Division of Medical Genetics, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA., Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., Slavotinek A; Division of Medical Genetics, University of California, San Francisco, San Francisco, CA, USA., Stödberg T; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Stong N; Institute for Genomic Medicine, Columbia University, New York, NY, USA., Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Taylor AC; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA., Toler TL; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA., van den Boogaard MJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van der Crabben SN; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Van Ziffle J; Department of Pathology, University of California San Francisco, San Francisco, CA, USA., Wadley AF; University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA., Wagner M; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany., Wigby K; Department of Pediatrics, Division of Genetics, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, CA, USA., Wortmann SB; Amalia Children's Hospital, Radboud University Nijmegen, Nijmegen, The Netherlands.; University Childrens Hospital, Paracelsus Medical University, Salzburg, Austria., Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Møller RS; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. konrad.platzer@medizin.uni-leipzig.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr; Vol. 23 (4), pp. 653-660. Date of Electronic Publication: 2020 Dec 10.
Autor:
Bar C; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France., Kuchenbuch M; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France., Barcia G; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France., Schneider A; Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia., Jennesson M; Department of Pediatrics, American Memorial Hospital, Reims, France., Le Guyader G; Department of Genetics, Poitiers University Hospital Center, Poitiers Cedex, France.; EA3808-NEUVACOD Neurovascular and Cognitive Disorders Unit, University of Poitiers, Poitiers, France., Lesca G; Department of Genetics, Lyon Civil Hospices, Lyon, France.; NeuroMyoGène Institute, National Center for Scientific Research, Mixed Unit of Research 5310, National Institute of Health and Medical Research U1217, University of Lyon, Claude Bernard Lyon 1 University, Villeurbanne, France., Mignot C; National Institute of Health and Medical Research, U1127, National Center for Scientific Research Mixed Unit of Research 7225, Pierre and Marie Curie University Paris 6 Mixed Unit of Research S1127, Brain and Spine Institute, Sorbonne University, Paris, France.; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Montomoli M; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Parrini E; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Isnard H; Pediatric Neurologist, Medical Office, Lyon, France., Rolland A; Department of Pediatrics, Nantes University Hospital Center, Nantes, France., Keren B; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Afenjar A; Department of Genetics and Medical Embryology, Reference Center for Malformations and Congenital Diseases of the Cerebellum and Rare Causes of Intellectual Disabilities, Sorbonne University, AP-HP, Trousseau Hospital, Paris, France., Dorison N; Pediatric Neurosurgery Department, Rothschild Foundation Hospital, Paris, France.; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France., Sadleir LG; Department of Pediatrics and Child Health, University of Otago, Wellington, New Zealand., Breuillard D; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France., Levy R; Department of Pediatric Radiology, Necker-Enfants Malades Hospital, Paris, France., Rio M; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; Laboratory of Developmental Brain Disorders, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, Sorbonne University, Paris, France., Dupont S; National Institute of Health and Medical Research, U1127, National Center for Scientific Research Mixed Unit of Research 7225, Pierre and Marie Curie University Paris 6 Mixed Unit of Research S1127, Brain and Spine Institute, Sorbonne University, Paris, France.; Epileptology Unit and Rehabilitation Unit, AP-HP, Pitie-Salpêtrière-Charles Foix Hospital, Paris, France., Negrin S; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea, Treviso, Italy., Danieli A; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea, Treviso, Italy., Scalais E; Pediatric Neurology Unit, Luxembourg Hospital Center, Luxembourg City, Luxembourg., De Saint Martin A; Department of Pediatric Neurology, Strasbourg University Hospital, Hautepierre Hospital, Strasbourg, France., El Chehadeh S; Department of Medical Genetics, Strasbourg University Hospitals, Hautepierre Hospital, Strasbourg, France., Chelly J; Department of Medical Genetics, Strasbourg University Hospitals, Hautepierre Hospital, Strasbourg, France., Poisson A; GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, le Vinatier Hospital Center and EDR-Psy Team (National Center for Scientific Research and Lyon 1 Claude Bernard University), Villeurbanne, France., Lebre AS; Reims University Hospital Center, Maison Blanche Hospital, Biology Department, Reims, France., Nica A; Neurology Department, Center for Clinical Research (CIC 1414), Rennes University Hospital, Rennes, France.; Laboratory of Signal Processing, National Institute of Health and Medical Research Mixed Unit of Research 1099, Rennes, France., Odent S; Reference Center for Rare Developmental Abnormalities CLAD-Ouest, Rennes University Hospital Center, Rennes, France.; National Center for Scientific Research Mixed Unit of Research 6290, Institute of Genetics and Development of Rennes (IGDR), University of Rennes, Rennes, France., Sekhara T; Department of Pediatric Neurology, C.H.I.R.E.C, Brussels, Belgium., Brankovic V; Clinic for Child Neurology and Psychiatry, Belgrade, Serbia., Goldenberg A; Reference Center for Developmental Anomalies and Malformation Syndromes, Rouen University Hospital Center, Rouen, France., Vrielynck P; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium., Lederer D; Human Genetic Center, IPG, Gosselies, Belgium., Maurey H; Department of Pediatric Neurology, AP-HP, Bicêtre University Hospital, Kremlin Bicêtre, France., Terrone G; Department of Translational Medical Sciences, Section of Pediatrics, Child Neurology Unit, Federico II University, Naples, Italy., Besmond C; Translational Genetics, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, University of Paris, Paris, France., Hubert L; Translational Genetics, National Institute of Health and Medical Research Mixed Unit of Research 1163, Imagine Institute, University of Paris, Paris, France., Berquin P; Department of Pediatric Neurology, Amiens-Picardie University Hospital Center, University of Picardy Jules Verne, Amiens, France., Billette de Villemeur T; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France., Isidor B; Department of Clinical Genetics, Nantes University Hospital Center, Nantes, France., Freeman JL; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, United States., Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, United States., Howell KB; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Rodríguez-Sacristán Cascajo A; Pediatric Neurology Unit, Department of Pediatric, Virgen Macarena Hospital, Seville, Spain.; Department of Pediatrics, School of Medicine, University of Seville, Seville, Spain., Meyer P; Department of Pediatric Neurology, Montpellier University Hospital Center, Montpellier, France.; PhyMedExp, National Institute of Health and Medical Research, U1046, National Center for Scientific Research Mixed Unit of Research 9214, University of Montpellier, Montpellier, France., Genevieve D; Department of Medical Genetics, Rare Disease, and Personalized Medicine, IRMB, University of Montpellier, National Institute of Health and Medical Research, Montpellier University Hospital Center, Montpellier, France., Guët A; Department of Pediatrics, Louis-Mourier Hospital, Colombes, France., Doummar D; Department of Pediatric Neurology, AP-HP, Armand Trousseau Hospital, Sorbonne University, Paris, France., Durigneux J; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia., van Dooren MF; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., de Wit MCY; Department of Pediatric Neurology and ENCORE Expertise Center, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands., Gerard M; Clinical Genetics, Côte de Nacre University Hospital Center, Caen, France., Marey I; Department of Genetics, Rare Causes of Intellectual Disability Reference Center, AP-HP, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France., Munnich A; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.; Department of Clinical Genetics, AP-HP, Necker-Enfants Malades Hospital, Paris, France., Guerrini R; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, University of Florence, Florence, Italy., Scheffer IE; Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.; Departments of Neurology and Paediatrics, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Florey Institute of Neurosciences and Mental Health, Heidelberg, Victoria, Australia., Kabashi E; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France., Nabbout R; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France.; Imagine Institute, Mixed Unit of Research 1163, University of Paris, Sorbonne University, Paris, France.
Publikováno v:
Epilepsia [Epilepsia] 2020 Nov; Vol. 61 (11), pp. 2461-2473. Date of Electronic Publication: 2020 Sep 21.
Autor:
Vandervore LV; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels 1090, Belgium; Center for Medical Genetics, UZ Brussel, Brussels 1090, Belgium., Schot R; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Milanese C; Department of Molecular Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Smits DJ; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Kasteleijn E; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK., Pilz DT; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Brock S; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels 1090, Belgium; Department of Pathology, UZ Brussels, Brussels 1090, Belgium., Börklü-Yücel E; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands; Department of Cell Biology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands; Medical Genetics Department, Koç University School of Medicine, Istanbul 34010, Turkey., Post M; Department of Cell Biology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Bahi-Buisson N; Imagine Institute, INSERM UMR-1163, Laboratory Genetics and Embryology of Congenital Malformations, Paris Descartes University, Institut des Maladies Génétiques 24, Boulevard de Montparnasse, Paris 75015, France., Sánchez-Soler MJ; Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia 30120, España., van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75013, France., Afenjar A; Département de génétique et embryologie médicale, CRMR des malformations et maladies congénitales du cervelet et des déficits intellectuels de causes rares, GRC n°19, pathologies Congénitales du Cervelet-LeucoDystrophies, Sorbonne Universités, Hôpital Trousseau, Paris 75012, France., Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3584 CX, the Netherlands., de Vries LS; Department of Neonatology, University Medical Center Utrecht, Utrecht University, 3584 CX, the Netherlands., Fawcett KA; Medical Research Council (MRC) Computational Genomics Analysis and Training Programme, MRC Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK., Nikkels PGJ; Department of Pathology, University Medical Center Utrecht, Utrecht University, 3584 CX, the Netherlands., Bertoli-Avella A; Centogene AG, Rostock 18055, Germany., Al Hashem A; Division of Medical Genetic, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Alwabel AA; Division of General Pediatrics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Tlili-Graiess K; Division of Neuroradiology, Department of Radiology, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Efthymiou S; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK., Zafar F; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Multan 60000, Pakistan., Rana N; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Multan 60000, Pakistan., Bibi F; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi 43600, Pakistan., Houlden H; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK., Person RE; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Crunk A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Savatt JM; The Autism & Developmental Medicine Institute at Geisinger, Danville, PA 17822, USA., Turner L; The Autism & Developmental Medicine Institute at Geisinger, Danville, PA 17822, USA., Doosti M; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad 009851, Iran., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, SW17 ORE, UK; Innovative Medical Research Center, Mashhad Branch, Islamic Azdad University, Mashhad 9133736351, Iran., Saadi NW; College of Medicine / Baghdad University, Children Welfare Teaching Hospital, Medical City Complex, Baghdad 10001, Iraq., Akhondian J; Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 009851, Iran., Lequin MH; Department of Radiology, University Medical Center Utrecht, Utrecht, 3584 CX, the Netherlands., Kayserili H; Medical Genetics Department, Koç University School of Medicine, Istanbul 34010, Turkey., van der Spek PJ; Department of Pathology, Clinical Bio-informatics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Jansen AC; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels 1090, Belgium; Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels 1090, Belgium., Kros JM; Department of Pathology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Verdijk RM; Department of Pathology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Milošević NJ; Croatian Institute of Brain Research, School of Medicine, University of Zagreb, Zagreb 10000, Croatia., Fornerod M; Department of Cell Biology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Mastroberardino PG; Department of Molecular Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands; Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila 67100, Italy., Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands. Electronic address: g.mancini@erasmusmc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Dec 05; Vol. 105 (6), pp. 1126-1147. Date of Electronic Publication: 2019 Nov 14.
Autor:
Poke G; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., King C; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Muir A; Department of Pediatrics, University of Washington, Seattle, WA, USA., de Valles-Ibáñez G; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Germano M; Maternal and Pediatric Department, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., Moura de Souza CF; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., Fung J; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong City, Hong Kong., Chung B; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong City, Hong Kong., Fung CW; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong City, Hong Kong., Mignot C; Department of Genetics, Reference Center for Intellectual Disorders of Rare Causes, APHP, Pitié-Salpêtrière University Hospital, Paris, France., Ilea A; Department of Pediatric Neurology and Metabolic Diseases, APHP, Robert Debré Hospital, Paris, France., Keren B; Department of Genetics, APHP, Pitié-Salpêtrière University Hospital, Paris, France., Vermersch AI; Department of Neurophysiology, APHP, Armand-Trousseau Hospital, Paris, France., Davis S; Starship Children's Hospital, Auckland, New Zealand., Stanley T; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Moharir M; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada., Kannu P; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Shao Z; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Malerba N; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., Merla G; Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., Mefford HC; Department of Pediatrics, University of Washington, Seattle, WA, USA., Scheffer IE; Florey and Murdoch Children's Research Institute, Austin Health and Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
Publikováno v:
Epilepsia [Epilepsia] 2019 Nov; Vol. 60 (11), pp. e121-e127. Date of Electronic Publication: 2019 Oct 20.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Autor:
Mignot C; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France. cyril.mignot@aphp.fr.; APHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares; GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France. cyril.mignot@aphp.fr., McMahon AC; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Bar C; APHP, Reference Centre for Rare Epilepsies, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.; INSERM U1163, Imagine Institute, Paris, France.; Paris Descartes University, Paris, France., Campeau PM; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Davidson C; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Buratti J; APHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares; GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France., Nava C; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.; APHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares; GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France., Jacquemont ML; CHU La Reunion-Groupe Hospitalier Sud Reunion, La Reunion, France., Tallot M; CHU La Reunion-Groupe Hospitalier Sud Reunion, La Reunion, France., Milh M; APHM, Hôpital d'Enfants de La Timone, Service de Neurologie Pediatrique, centre de reference deficiences intellectuelles de cause rare, Marseille, France.; Aix Marseille University, INSERM, MMG, UMR-S 1251, Faculte de medecine, Marseille, France., Edery P; Service de Genetique, Centre de Reference Anomalies du Developpement, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Universite Claude Bernard Lyon 1, Bron, France.; Claude Bernard Lyon I University, Lyon, France., Marzin P; APHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares; GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France., Barcia G; INSERM U1163, Imagine Institute, Paris, France.; Paris Descartes University, Paris, France.; APHP, Service de genetique medicale, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France., Barnerias C; APHP, Unite fonctionnelle de Neurologie, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France., Besmond C; INSERM U1163, Imagine Institute, Paris, France.; Paris Descartes University, Paris, France., Bienvenu T; APHP, Laboratoire de Genetique et Biologie Moleculaires, Hôpital Cochin, HUPC, Paris, France.; Universite Paris Descartes Paris, Institut de Psychiatrie et de Neurosciences de Paris, Inserm U894, Paris, France., Bruel AL; FHU-TRANSLAD, Universite de Bourgogne/CHU Dijon, Dijon, France.; INSERM UMR 1231 GAD team, Genetics of Developmental disorders, Universite de Bourgogne-Franche Comte, Dijon, France., Brunga L; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Ceulemans B; Department of Pediatric Neurology, University Hospital and University of Antwerp, Antwerp, Belgium., Coubes C; Departement de Genetique Medicale, Maladies rares et Medecine Personnalisee, CHU de Montpellier, Montpellier, France., Cristancho AG; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cunningham F; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Dehouck MB; Centre de Genetique Chromosomique, Hôpital St-Vincent-de-Paul, GHICL, Lille, France., Donner EJ; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Duban-Bedu B; Centre de Genetique Chromosomique, Hôpital St-Vincent-de-Paul, GHICL, Lille, France., Dubourg C; CHU Rennes, Service de Genetique Moleculaire et Genomique, Rennes, France., Gardella E; Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Gauthier J; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Geneviève D; Departement de Genetique Medicale, Maladies rares et Medecine Personnalisee, CHU de Montpellier, Montpellier, France.; INSERM U1183, Montpellier, France., Gobin-Limballe S; APHP, Service de genetique medicale, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France., Goldberg EM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hagebeuk E; Stichting Epilepsie Instellingen Nederland, SEIN, Zwolle, The Netherlands., Hamdan FF; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Hančárová M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Hubert L; INSERM U1163, Imagine Institute, Paris, France.; Paris Descartes University, Paris, France., Ioos C; APHP, University Hospital of Paris ïle-de-France ouest, Raymond Poincare Hospital, Garches, France., Ichikawa S; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA., Janssens S; Centre for Medical Genetics Ghent, Ghent University Hospital, C. Heymanslaan 10, Ghent, Belgium., Journel H; Service de Genetique Medicale, Hôpital Chubert, Vannes, France., Kaminska A; APHP, Department of Clinical Neurophysiology, Necker-Enfants Malades Hospital, Paris, France., Keren B; APHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares; GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France., Koopmans M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Lacoste C; Departement de Genetique Medicale, APHM, Hopital d'Enfants de La Timone, Marseille, France., Laššuthová P; Child Neurology Department, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic., Lederer D; Centre de Genetique Humaine, Institut de Pathologie et de Genetique, Gosselies, Belgium., Lehalle D; FHU-TRANSLAD, Universite de Bourgogne/CHU Dijon, Dijon, France.; Unite fonctionnelle de genetique clinique, Centre Hospitalier Intercommunal de Creteil, Creteil, France., Marjanovic D; Danish Epilepsy Centre Filadelfia, Dianalund, Denmark., Métreau J; APHP, Service de neurologie pediatrique, Hôpital Universitaire Bicetre, Le Kremlin-Bicetre, France., Michaud JL; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Miller K; Department of Pediatrics, Albany Medical Center, Albany, NY, USA., Minassian BA; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Morales J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Moutard ML; APHP, Hôpital Trousseau, service de neuropediatrie, Paris, France.; Sorbonne Universite, GRC n°19, pathologies Congenitales du Cervelet-LeucoDystrophies, APHP, Hôpital Armand Trousseau, Paris, France., Munnich A; INSERM U1163, Imagine Institute, Paris, France.; Paris Descartes University, Paris, France.; APHP, Service de genetique medicale, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France., Ortiz-Gonzalez XR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pinard JM; Division of Neuropediatrics, CHU Raymond Poincare (APHP), Garches, France., Prchalová D; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Putoux A; Service de Genetique, Centre de Reference Anomalies du Developpement, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Universite Claude Bernard Lyon 1, Bron, France.; Claude Bernard Lyon I University, Lyon, France., Quelin C; Service de Genetique Medicale, CLAD Ouest CHU Hôpital Sud, Rennes, France., Rosen AR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Roume J; Unite de Genetique Medicale, Centre de Reference des Maladies rares du Developpement (AnD DI Rares), CHI Poissy-St Germain en Laye, Poissy, France., Rossignol E; Departments of Pediatrics and Neurosciences, CHU Sainte-Justine and University of Montreal, Montreal, Canada., Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Smol T; Institut de Genetique Medicale, CHRU Lille, Universite de Lille, Lille, France., Shur N; Department of Pediatrics, Albany Medical Center, Albany, NY, USA., Shelihan I; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Štěrbová K; Child Neurology Department, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic., Vyhnálková E; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.; Interuniversity Institute of Bioinformatics in Brussels, Universite Libre de Bruxelles, Brussels, Belgium., Soblet J; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.; Interuniversity Institute of Bioinformatics in Brussels, Universite Libre de Bruxelles, Brussels, Belgium., Smits G; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.; Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.; Interuniversity Institute of Bioinformatics in Brussels, Universite Libre de Bruxelles, Brussels, Belgium., Yang SP; Clinical Genomics & Predictive Medicine, Providence Medical Group, Dayton, WA, USA., van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands., van Kempen M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Weckhuysen S; Neurogenetics Group, Center of Molecular Neurology, VIB, Antwerp, Belgium.; Neurology Department, University Hospital Antwerp, Antwerp, Belgium., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Villard L; Aix Marseille University, INSERM, MMG, UMR-S 1251, Faculte de medecine, Marseille, France.; Departement de Genetique Medicale, APHM, Hopital d'Enfants de La Timone, Marseille, France., Héron D; APHP, Hôpital Pitie-Salpetriere, Departement de Genetique et de Cytogenetique; Centre de Reference Deficience Intellectuelle de Causes Rares; GRC UPMC «Deficience Intellectuelle et Autisme», Paris, France., Koeleman B; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Møller RS; CHU Rennes, Service de Genetique Moleculaire et Genomique, Rennes, France.; Danish Epilepsy Centre Filadelfia, Dianalund, Denmark., Lesca G; Service de Genetique, Centre de Reference Anomalies du Developpement, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Universite Claude Bernard Lyon 1, Bron, France.; Claude Bernard Lyon I University, Lyon, France., Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Nabbout R; APHP, Reference Centre for Rare Epilepsies, Necker-Enfants Malades Hospital, Imagine Institute, Paris Descartes University, Paris, France.; INSERM U1163, Imagine Institute, Paris, France.; Paris Descartes University, Paris, France., Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Depienne C; INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France. christel.depienne@uni-due.de.; IGBMC, CNRS UMR 7104/INSERM U964/Universite de Strasbourg, Illkirch, France. christel.depienne@uni-due.de.; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany. christel.depienne@uni-due.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Apr; Vol. 21 (4), pp. 837-849. Date of Electronic Publication: 2018 Sep 12.
Autor:
Hamdan FF; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada., Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA., Cossette P; Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada., Lemay P; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada., Spiegelman D; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada., Laporte AD; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada., Nassif C; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada., Diallo O; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada., Monlong J; McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada., Cadieux-Dion M; Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA., Dobrzeniecka S; Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada., Meloche C; Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada., Retterer K; GeneDx, Gaithersburg, MD 20877, USA., Cho MT; GeneDx, Gaithersburg, MD 20877, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA., Massicotte C; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada., Miguet M; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada., Brunga L; Program in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada., Regan BM; Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada., Mo K; Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada., Tam C; Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada., Schneider A; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia., Hollingsworth G; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia., FitzPatrick DR; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK., Donaldson A; Clinical Genetics Service, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, St. Michael's Hill, Bristol BS2 8DT, UK., Canham N; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK., Blair E; Oxford Centre for Genomic Medicine, ACE building Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Kerr B; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK., Thomas RH; MRC Centre for Neuropsychiatric Genetics & Genomics, Hadyn Ellis Building, Cathays, Cardiff University, Cardiff CF24 4HQ, UK., Shelagh J; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Hurst JA; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Brittain H; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Blyth M; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 4SA, UK., Lebel RR; Department of Pediatrics, Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY 13210, USA., Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands., Davis-Keppen L; University of South Dakota Sanford School of Medicine, Sioux Falls, SD 57117, USA., Stein Q; Augustana-Sanford Genetic Counseling Graduate Program, Sioux Falls, SD 57197, USA., Chung WK; Departments of Medicine and Pediatrics, Columbia University Medical Center, New York, NY 10032, USA., Dorison SJ; Baptist Hospital, Miami, FL 33176 USA., Benke PJ; Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA., Fassi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA., Corsten-Janssen N; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands., Kamsteeg EJ; Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Mau-Them FT; Centre de Génétique des Anomalies du Développement, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France; Équipe INSERM 1231, Génétique des Anomalies du Développement, Université de Bourgogne, 21000 Dijon, France., Bruel AL; Centre de Génétique des Anomalies du Développement, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France; Équipe INSERM 1231, Génétique des Anomalies du Développement, Université de Bourgogne, 21000 Dijon, France., Verloes A; Genetics Department, Assistance Publique - Hôpitaux de Paris, Robert-Debré University Hospital, 75000 Paris, France., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu 51014, Estonia., Wojcik MH; Division of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Albert DVF; Nationwide Children's Hospital and Ohio State University, Department of Pediatrics, Division of Neurology, Columbus, OH 43205, USA., Venkateswaran S; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Ware T; University of Tasmania, Royal Hobart Hospital, Department of Paediatrics, Hobart, TAS 7000, Australia., Jones D; School of Medicine, University of Tasmania, Hobart, TAS 7000, Australia., Liu YC; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia., Mohammad SS; Children's Hospital at Westmead Clinical School, University of Sydney, Westmead, NSW 2145, Australia., Bizargity P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Leuzzi V; Dipartimento di Pediatria e di Neuropsichiatria Infantile, Università La Sapienza, 00185 Rome, Italy., Martinelli S; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy., Dallapiccola B; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy., Blumkin L; Metabolic Neurogenetic Clinic and Pediatric Movement Disorders Clinic, Wolfson Medical Center, Holon 5822012, Israel., Wierenga KJ; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Purcarin G; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., O'Byrne JJ; University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada., Stockler S; University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada., Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada., Keren B; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique 'Déficiences Intellectuelles et Autisme,' Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France., Nougues MC; Assistance Publique - Hôpitaux de Paris, Hôpital d'Enfants Armand Trousseau, Service de Neuropédiatrie, Paris 75012, France., Mignot C; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique 'Déficiences Intellectuelles et Autisme,' Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France., Auvin S; Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR 1141, Paris 75019, France; Assistance Publique - Hôpitaux de Paris, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris 75019, France., Nava C; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique 'Déficiences Intellectuelles et Autisme,' Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France., Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA., Bebin M; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Shao Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Frye RE; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA; Arkansas Children's Research Institute, Little Rock, AR 72205, USA., Jarjour IT; Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA., Jacques S; Centre Hospitalier Rouyn-Noranda, Rouyn-Noranda, QC J9X 2B2, Canada., Boucher RM; Division of Neurology, Centre Hospitalier Universitaire de Québec, Quebec, QC G1V 4G2, Canada., Riou E; Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada., Srour M; Department of Pediatrics, McGill University, Montreal, QC H3A 1A4, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 1A4, Canada., Carmant L; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada., Lortie A; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada., Major P; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada., Diadori P; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada., Dubeau F; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada., D'Anjou G; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada., Bourque G; McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia., Sadleir LG; Department of Pediatrics and Child Health, University of Otago, Wellington 9016, New Zealand., Campeau PM; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada., Kibar Z; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada., Lafrenière RG; Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada., Girard SL; Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada; Département des Sciences Fondamentales, Université du Québec à Chicoutimi, Chicoutimi, QC G7H 2B1, Canada., Mercimek-Mahmutoglu S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Boelman C; Division of Neurology, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada., Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; Department of Pediatrics, University of Melbourne Royal Children's Hospital, Parkville, VIC 3052, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA., Andrade DM; Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada., Rossignol E; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada., Minassian BA; Program in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada; Division of Child Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX 75390, USA. Electronic address: berge.minassian@sickkids.ca., Michaud JL; Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address: jacques.michaud@recherche-ste-justine.qc.ca.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2017 Nov 02; Vol. 101 (5), pp. 664-685.
Autor:
Edvardson S; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Nicolae CM; Department of Biochemistry and Molecular Biology, The Pennsylvania State University College of Medicine, Hershey, PA 17033, USA., Agrawal PB; Divisions of Newborn Medicine and Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Mignot C; Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Paris 75013, France., Payne K; Riley Hospital for Children, Indianapolis, Indiana, IN, 46202, USA., Prasad AN; Section of Paediatric Neurology, Department of Paediatrics, and the Division of Clinical Neurological Sciences, Faculty of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario N6A 3K7, Canada., Prasad C; Department of Paediatrics, Section of Genetics, Western University London Ontario N6A 3K7, Canada., Sadler L; Division of Genetics, Department of Pediatrics, Women and Children's Hospital of Buffalo, Jacobs School of Medicine and Biomedical Sciences, University of Buffalo, State University of New York, Buffalo, NY 14214, USA., Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Paris 75013, France; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France., Mullen TE; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 53377, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Baskin B; GeneDx, Gaithersburg, MD 20877, USA., Powis Z; Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, California, USA 92656., Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel., Keren B; Département de Génétique, APHP, GH Pitié-Salpêtrière, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Paris 75013, France., Moldovan GL; Department of Biochemistry and Molecular Biology, The Pennsylvania State University College of Medicine, Hershey, PA 17033, USA. Electronic address: gmoldovan@pennstatehealth.psu.edu., Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel. Electronic address: elpeleg@hadassah.org.il.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2017 Aug 03; Vol. 101 (2), pp. 267-273.