Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
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| Title: | Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies. |
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| Authors: | Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Santini A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Cogne B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Laboratoire SeqOIA, Paris, France., Essid M; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France.; GCS AURAGEN, Lyon, France.; Member of ERN EpiCARE., Athanasiadou M; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104- UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France., LaFlamme CW; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.; Graduate School of Biomedical Sciences, St. Jude Children's Research Hospital, Memphis, Memphis, TN, USA., Marijon P; Laboratoire SeqOIA, Paris, France., Bernard V; GCS AURAGEN, Lyon, France., Chatron N; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France.; GCS AURAGEN, Lyon, France., Barcia G; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Laboratoire SeqOIA, Paris, France.; Member of ERN EpiCARE., Keren B; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France., Mignot C; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Charles P; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Besnard T; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., de Sainte Agathe JM; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France., Fuerte EPA; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Sengupta S; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Milh M; Service de Neurologie Pediatrique, AP-HM, Marseille, France.; Aix Marseille Univ, Inserm, INMED, U1249, Marseille, France., Ramond F; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France., Allan T; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., An I; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie, Center of Reference for Rare Epilepsies, ERN EPICARE, Hôpital Pitié-Salpêtrière, Paris, France., Araujo C; Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirao Preto, Brazil., Arpin S; Service de Génétique, CHU de Tours, Tours, France., Austin-Tse C; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Auvin S; Assistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France.; Université Paris Cité, INSERM NeuroDiderot, Paris, France.; Member of ERN EpiCARE., Baer S; Service de neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Member of ERN EpiCARE., Bahi-Buisson N; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France., Bak M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark., Barth M; Department of Medical Genetics, Angers University Hospital, Angers, France.; University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France., Baulac S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France., Weirauch NB; Service de Pédiatrie, CHU Reims, Reims, France.; Université Reims Champagne Ardenne (URCA), UFR médecine, Reims, France.; CReSTIC/EA 3804, URCA, Reims, France., Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany., Bennett MF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Genetics and Gene Regulation Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia., Bensabath U; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Bézieau S; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Bhouri R; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France., Biehler M; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.; Danish Epilepsy center, Dianalund, Denmark., Bogoin J; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Bonanno E; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Boussion S; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Bramswig NC; Centre of Medical Genetics, Department of Medical Genetics, University and University Hospital Münster, Münster, Germany., Bris C; Department of Medical Genetics, Angers University Hospital, Angers, France.; University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France., Brosseau-Beauvir A; Center for Intellectual Disability Reference, Brest University Hospital, Brest, France., Bruel AL; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., Buratti J; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Chambon P; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Laboratoire SeqOIA, Paris, France., Chemaly N; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Reference Center for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris, France.; Member of ERN EpiCARE., Chesneau B; Service de Génétique médicale, CHU Purpan, Toulouse, France., Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France.; University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France., Colmard M; Service de Neuropédiatrie, CHU Montpellier, Montpellier, France., Conrad S; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Courtin T; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France., Dang LT; Department of Pediatrics, Michigan Medicine, University of Michigan, Ann Arbor, USA., de Saint Martin A; Service de neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Member of ERN EpiCARE., de Vanssay de Blavous Legendre C; service de Pédiatrie, consultation de neurologie pédiatrique GHH Jacques Monod, Le Havre, France., Denommé-Pichon AS; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France., DiTroia S; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Doco-Fenzy M; UF de Génétique Clinique, CHU de Reims, Reims, France.; Université Reims Champagne Ardenne (URCA), UFR médecine, Reims, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Laboratoire SeqOIA, Paris, France., Dubucs C; Département de Pathologie, Institut Universitaire du Cancer Toulouse - Oncopole, Toulouse, France., Ducreux S; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Laboratoire SeqOIA, Paris, France., Dufour L; Assistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France., Duquet R; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Durand B; Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France., Chehadeh SE; Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany., Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares et Centre de référence GénoPsy, Dijon, France., Faoucher M; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Laboratoire SeqOIA, Paris, France.; GCS AURAGEN, Lyon, France., Faudet A; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Forlani S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France., Fradin M; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France., Gaignard P; Laboratoire de Biochimie Site Bicêtre, Faculté de Pharmacie, Hôpitaux Universitaires Paris-Saclay, Centre de référence des Maladies Mitochondriales, Filière Filnemu, Paris, France.; Laboratoire SeqOIA, Paris, France., Ganne B; Laboratoire de Génétique chromosomique, CHU de Montpellier, Montpellier, France., Garde A; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs», Centre de Génétique, FHU-TRANSLAD, Dijon, France., Géraud J; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France., Gill D; Kids Neuroscience Centre, Kids Research Institute, Sydney, NSW, Australia.; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Sydney, NSW, Australia.; Specialty of Child and Adolescent Health, University of Sydney, Sydney, NSW, Australia., Goldenberg A; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Grabli D; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie, Center of Reference for Rare Epilepsies, ERN EPICARE, Hôpital Pitié-Salpêtrière, Paris, France., Grisel C; Service de Pédiatrie, Centre Hospitalier Intercommunal de Créteil, Créteil, France., Gueden S; Department of Pediatric Neurology, Angers University Hospital, Angers, France., Gueguen P; Service de Génétique, CHU de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Laboratoire SeqOIA, Paris, France., Guerrot AM; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Guichet A; Department of Medical Genetics, Angers University Hospital, Angers, France.; University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France., Härting N; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Häusler MG; Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, University Hospital, Rheinisch-Westfälische Technische Hochschule Aachen, Aachen, Germany., Heide S; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Héron B; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France., Héron D; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Heulin M; Service de Neuropédiatrie, Hôpital Jean-Verdier, Bondy, France., Houdayer C; Department of Medical Genetics, Angers University Hospital, Angers, France.; University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France., Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Jacquette A; consultation de génétique, CCMR ANDDI rare, centre hospitalier d'Alençon, Alençon, France., Januel L; Genetics Department, Hospices Civils de Lyon, Lyon, France.; GCS AURAGEN, Lyon, France., Jean-Marçais N; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France., Jousselin K; Laboratoire SeqOIA, Paris, France., Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Kaya S; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., King C; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Konyukh M; Département de Génétique Médicale, Hôpital Henri Mondor, Assistance Publique des Hôpitaux de Paris, Créteil, France.; Laboratoire SeqOIA, Paris, France., Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany., Krause J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany., Kirstetter R; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France., Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany., Labalme A; Genetics Department, Hospices Civils de Lyon, Lyon, France., Laloy JS; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France., Laugel V; Service de neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Bricquir FL; Nantes Université, CHU de Nantes, Service de Pédiatrie, Nantes, France., Lèbre AS; Laboratoire de Génétique, CHU de Reims, Reims, France.; Université Reims Champagne Ardenne (URCA), UFR médecine, Reims, France.; Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, [Krebs team], Paris, France., Lebrun M; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.; GCS AURAGEN, Lyon, France., Leguern E; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Levy J; Assistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France.; Laboratoire SeqOIA, Paris, France., Lieffering N; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Lyonnet S; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France., Lüthy K; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Macdonald S; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Mansour-Hendili L; Laboratoire SeqOIA, Paris, France., Maraval J; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Centre de référence Déficiences Intellectuelles de Causes Rares et Centre de référence GénoPsy, Dijon, France., Mattausch C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Messaoud O; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Morel G; Service de Génétique, CHU (Centre Hospitalier Universitaire) de La Réunion, Saint-Denis, La Réunion, France., Mortreux J; GCS AURAGEN, Lyon, France., Munnich A; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France., Nabbout R; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Reference Center for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris, France.; Member of ERN EpiCARE., Nambot S; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs», Centre de Génétique, FHU-TRANSLAD, Dijon, France., Navarro V; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie, Center of Reference for Rare Epilepsies, ERN EPICARE, Hôpital Pitié-Salpêtrière, Paris, France.; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France., Neale A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Nguyen L; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Nizon M; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Nowak F; Health Technologies Institute, Inserm, Paris, France., O'Leary MC; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Odent S; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France., Ojeda NM; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Olin V; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Õunap K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Pais LS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Paluch R; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Panagiotakaki E; Department of Pediatric Epileptology, University Hospitals of Lyon (HCL), Lyon, France.; Member of ERN EpiCARE., Patat O; Service de Génétique médicale, CHU Purpan, Toulouse, France., Perrin-Sabourin L; Assistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France., Petit F; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France., Philippe C; Laboratoire de Génétique Médicale, CHR Metz-Thionville, Hôpital Mercy, Metz, France.; GCS AURAGEN, Lyon, France., Piton A; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.; GCS AURAGEN, Lyon, France., Planes M; Medical Genetics Department, Brest University Hospital, Brest, France., Poirsier C; UF de Génétique Clinique, CHU de Reims, Reims, France., Pouzet A; Assistance Publique - Hôpitaux de Paris (APHP), Département de Neuropédiatrie, Hôpital Robert-Debré, Paris, France., Prouteau C; Department of Medical Genetics, Angers University Hospital, Angers, France.; University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, University Hospital of Angers, Angers, France., Quéméner-Redon S; Medical Genetics Department, Brest University Hospital, Brest, France.; Center for Intellectual Disability Reference, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Renaud M; Service de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France., Richard AC; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France., Rio M; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France., Rivier C; Department of Pediatrics, Hôpital Nord-Ouest, Villefranche sur Saône, France., Robin-Renaldo F; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France., Rollier P; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Univ Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France., Rossi M; Genetics Department, Hospices Civils de Lyon, Lyon, France., Roubertie A; Service de Neuropédiatrie, CHU Montpellier, Montpellier, France.; INM, INSERM U 1298, Montpellier, France., Rupin M; Department of Pediatric Neurology, Angers University Hospital, Angers, France., Saugier-Veber P; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Laboratoire SeqOIA, Paris, France., Saneto R; Neuroscience Institute, Norcliff Center for Integrative Brain Research, Division of Pediatric Neurology, Seattle Children's Hospital/University of Washington, Seattle, USA., Sarrazin E; Caribbean Reference Center for Neuromuscular Diseases, University Hospital, Fort de France, Martinique, France., Schaefer E; Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France., Schluth-Bolard C; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; UMRS 1112, INSERM, Université de Strasbourg, Strasbourg, France.; GCS AURAGEN, Lyon, France., Schneider A; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Schumann I; Centre of Medical Genetics, Department of Medical Genetics, University and University Hospital Münster, Münster, Germany.; Institute of Human Genetics, Leipzig University Medical Center, Leipzig, Germany., Seplyarskiy V; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Brigham and Women's Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA., Smol T; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Laboratoire SeqOIA, Paris, France., Sunyaev S; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Brigham and Women's Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA., Sperelakis-Beedham B; Université Paris Cité, INSERM, IHU Imagine - Institut des maladies génétiques, Paris, France.; Assistance Publique - Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Laboratoire SeqOIA, Paris, France., Stenton SL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Stock F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Tharreau M; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Genetic Diseases, CeRéMAIA, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France., Torun D; Department of Medical Genetics, Gulhane Military Medical Academy, Ankara, Turkey., Toulouse J; Department of Pediatric Epileptology, University Hospitals of Lyon (HCL), Lyon, France.; Member of ERN EpiCARE., Thiyagarajah H; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Valence S; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France., Valleix S; Assistance Publique - Hôpitaux de Paris (APHP), Paris City University, Genomic Medicine Department of systemic and organ diseases, Cochin hospital, Paris, France., Villard L; Service de Génétique Médicale, AP-HM, Marseille, France.; Aix Marseille Univ, Inserm, INMED, U1249, Marseille, France., Ville D; Department of Pediatric Neurology and Reference Center for Rare Children Epilepsy and Tuberous Sclerosis, Hôpital Femme Mere Enfant, Centre Hospitalier Universitaire de Lyon, Lyon, France., Villeneuve N; Service de Neurologie Pediatrique, AP-HM, Marseille, France.; Member of ERN EpiCARE., Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.; GCS AURAGEN, Lyon, France., Waernessyckle A; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France., Weber Y; Section of Epileptology, Department Neurology, Medical Faculty, University RWTH Aachen, Aachen, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf,, Düsseldorf, Germany., Witkowski T; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Yadavilli M; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Yammine T; Laboratoire de Génétique, CHU de Reims, Reims, France., Zaafrane-Khachnaoui K; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Ziegler A; UF de Génétique Clinique, CHU de Reims, Reims, France.; Service de Génétique médicale, CHU Purpan, Toulouse, France.; GCS AURAGEN, Lyon, France., Lermine A; Laboratoire SeqOIA, Paris, France., Nicolas G; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Laboratoire SeqOIA, Paris, France., Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Neuroscience Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia.; Florey Institute and Murdoch Children's Research Institute, Melbourne, Australia., Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Blanc P; Laboratoire SeqOIA, Paris, France., Thevenon J; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institut for Advanced Biosciences, Grenoble, France.; GCS AURAGEN, Lyon, France., Charbonnier C; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Biostatistics and Reference Center for Developmental Abnormalities, Rouen, France., Charenton C; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104- UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Laboratoire SeqOIA, Paris, France., Lesca G; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France.; GCS AURAGEN, Lyon, France.; Member of ERN EpiCARE., Nava C; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Assistance Publique - Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France. |
| Source: | MedRxiv : the preprint server for health sciences [medRxiv] 2025 Sep 04. Date of Electronic Publication: 2025 Sep 04. |
| Publication Type: | Journal Article; Preprint |
| Journal Info: | Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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