Zobrazeno 1 - 10
of 383
pro vyhledávání: '"Ioos C"'
Autor:
Eymard, B., Ioos, C., Barois, A., Estournet, B., Mayer, M., Fournier, E., Yasaki, E., Prioleau, C., Bauché, S., Gaudon, K., Leroy, J.P., Koenig, J., Richard, P., Hantaï, D.
Publikováno v:
In Revue Neurologique 2004 160(5) Part 2:78-84
Autor:
Géraud J; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France., Dieterich K; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.; INSERM U1037, Cancer Research Center of Toulouse (CRCT), Department of Pathology, Toulouse University Hospital, Toulouse, France., Rendu J; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.; INSERM U1216, University of Grenoble Alpes, Grenoble, France., Uro Coste E; INSERM U1037, Cancer Research Center of Toulouse (CRCT), Department of Pathology, Toulouse University Hospital, Toulouse, France., Dobrzynski M; Maternity Department, Brest University Hospital Center, Brest, France., Marcorelle P; Pathology Department, Brest University Hospital, Morvan Hospital, Brest, France., Ioos C; Neuropediatric Department, Garches University Hospital Center, Garches, France., Romero NB; UMRS974, CNRS FRE3617, Center for Research in Myology, INSERM, CNRS, Sorbonne University, UPMC University of Paris 06, Paris, France.; Myology Institute, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France., Baudou E; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France., Brocard J; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.; INSERM U1216, University of Grenoble Alpes, Grenoble, France., Coville AC; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France., Fauré J; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.; INSERM U1216, University of Grenoble Alpes, Grenoble, France., Koenig M; Molecular Genetics Laboratory, LGMR, Montpellier University Hospital Centre, University of Montpellier, Montpellier, France., Juntas Morales R; Molecular Genetics Laboratory, LGMR, Montpellier University Hospital Centre, University of Montpellier, Montpellier, France., Lacène E; UMRS974, CNRS FRE3617, Center for Research in Myology, INSERM, CNRS, Sorbonne University, UPMC University of Paris 06, Paris, France.; Myology Institute, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France., Madelaine A; UMRS974, CNRS FRE3617, Center for Research in Myology, INSERM, CNRS, Sorbonne University, UPMC University of Paris 06, Paris, France.; Myology Institute, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Paris, France., Marty I; INSERM U1216, Grenoble Alpes University Hospital, Grenoble, France.; INSERM U1216, University of Grenoble Alpes, Grenoble, France., Pegeot H; Molecular Genetics Laboratory, LGMR, Montpellier University Hospital Centre, University of Montpellier, Montpellier, France., Theze C; Molecular Genetics Laboratory, LGMR, Montpellier University Hospital Centre, University of Montpellier, Montpellier, France., Siegfried A; INSERM U1216, University of Grenoble Alpes, Grenoble, France., Cossee M; Molecular Genetics Laboratory, LGMR, Montpellier University Hospital Centre, University of Montpellier, Montpellier, France., Cances C; Neuropediatric Department, University Hospital Centre Toulouse, Toulouse, France cances.c@chu-toulouse.fr.
Publikováno v:
Journal of medical genetics [J Med Genet] 2021 Sep; Vol. 58 (9), pp. 602-608. Date of Electronic Publication: 2020 Sep 29.
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:
Ioos, C., Villeneuve, N., Fohlen, M., Badinant-Hubert, N., Jalin, C., Cheliout-Heraut, F., Pinard, J.M.
Publikováno v:
In Archives de pédiatrie 1999 6(7):755-758
Autor:
Patel, Anish1 (AUTHOR) anish.patel@novartis.com, Toro, Walter1 (AUTHOR), Bourke, Siobhan2 (AUTHOR), Oluboyede, Yemi3 (AUTHOR), Barbier, Sylvaine4 (AUTHOR), Bogoeva, Nataliya5 (AUTHOR), Reyna, Sandra P.1 (AUTHOR), Dabbous, Omar1 (AUTHOR)
Publikováno v:
PLoS ONE. 10/21/2024, Vol. 19 Issue 10, p1-20. 20p.
Autor:
Allach El Khattabi L; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France.; Department of Development, Reproduction and Cancer, Cochin Research Institute, INSERM U1016, CNRS UMR8104, Paris, France.; Nuclear Lymphocyte Biology, NIAMS, National Institutes of Health, Bethesda, Maryland, United States., Heide S; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France., Caberg JH; Genetics department, CHU de Liège - UniLab Lg, Liège, Belgium., Andrieux J; Genetics department, Jeanne de Flandre Hospital, CHRU de Lille, Lille, France., Doco Fenzy M; Genetics department, CHU Reims, Medical school IFR53, EA3801, Reims, France., Vincent-Delorme C; Genetics department, Guy Fontaine Medical center, CLAD Nord de France, Jeanne de Flandre Hospital, CHRU Lille, CH Arras, Arras, France., Callier P; Genetics department, CHU de Dijon, Dijon, France., Chantot-Bastaraud S; Genetics and Embryology department, Armand-Trousseau Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France., Afenjar A; Neuropediatrics department, Armand-Trousseau Hospital, Assistance Publique des Hôpitaux de Paris; Reference Center for cerebellar malformations, Paris, France., Boute-Benejean O; Genetics department, Guy Fontaine Medical Center, CLAD Nord de France, Jeanne de Flandre Hospital, CHRU Lille, Lille, France., Cordier MP; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France., Faivre L; Genetics department, CHU de Dijon, Dijon, France., Francannet C; Medical Genetics department, Hôtel Dieu Hospital, Clermont-Ferrand, France., Gerard M; Genetics department, CHU Côte de Nacre, Caen, France., Goldenberg A; Medical Genetics department, CHU Ch. Nicolle, Rouen, France., Masurel-Paulet A; Genetics department, CHU de Dijon, Dijon, France., Mosca-Boidron AL; Genetics department, CHU de Dijon, Dijon, France., Marle N; Genetics department, CHU de Dijon, Dijon, France., Moncla A; Medical Genetics department, CHU Timone enfants, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Le Meur N; Department of Genetics, Reproductive biology and Histology, CHU de Rouen, Rouen, France., Mathieu-Dramard M; Clinical Genetics department, CHU d'Amiens, Amiens, France., Plessis G; Genetics department, CHU Côte de Nacre, Caen, France., Lesca G; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France., Rossi M; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France., Edery P; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France., Delahaye-Duriez A; Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France.; Division of Brain Sciences, Faculty of Medicine, Imperial College, London, UK., De Pontual L; Pediatrics department, Jean Verdier Hospital, Assistance Publique des Hôpitaux de Paris, Paris 13 University, Bondy, France., Tabet AC; Genetics department, CHU Robert Debré, Assistance Publique des Hôpitaux de Paris, Paris, France., Lebbar A; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France., Suiro L; Neuropediatrics department, Hôpital Raymond Poincaré, Assistance Publique des Hôpitaux de Paris, Garches, France., Ioos C; Neuropediatrics department, Hôpital Raymond Poincaré, Assistance Publique des Hôpitaux de Paris, Garches, France., Natiq A; Medical Genetics department, Institut National d'Hygiène, Rabat, Morocco., Chafai Elalaoui S; Medical Genetics department, Institut National d'Hygiène, Rabat, Morocco., Missirian C; Medical Genetics department, CHU Timone enfants, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Receveur A; Cytogenetics and Reproductive Biology department, CHU d'Amiens, Amiens, France., François-Fiquet C; Plastic reconstructive and aesthetic surgery, Maison Blanche Hospital, Robert Debré Hospital, Reims, France., Garnier P; Pediatrics, CAMSP, Troyes, France., Yardin C; Department of Histology, Cytology, Cytogenetics, Cell Biology and Reproduction, Limoges University Hospital, Limoges, France., Laroche C; Pediatrics department, Limoges University Hospital, Limoges, France., Vago P; Cytogenetics department, CHU Clermont-Ferrand, ERTICA, Auvergne University, Clermont-Ferrand, France., Sanlaville D; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France., Dupont JM; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France.; Department of Development, Reproduction and Cancer, Cochin Research Institute, INSERM U1016, CNRS UMR8104, Paris, France., Benzacken B; Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France., Pipiras E; Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France.
Publikováno v:
Journal of medical genetics [J Med Genet] 2020 May; Vol. 57 (5), pp. 301-307. Date of Electronic Publication: 2018 Oct 04.
Autor:
Panagiotakaki E; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Doummar D; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Nogue E; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Nagot N; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Lesca G; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Riant F; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Nicole S; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Delaygue C; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Barthez MA; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Nassogne MC; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Dusser A; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Vallée L; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Billette T; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Bourgeois M; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Ioos C; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Gitiaux C; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Laroche C; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Milh M; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Portes VD; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Arzimanoglou A; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France., Roubertie A; From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence 'Déficiences Intellectuelles de Causes Rares' (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France. a-roubertie@chu-montpellier.fr.
Publikováno v:
Neurology [Neurology] 2020 Mar 31; Vol. 94 (13), pp. e1378-e1385. Date of Electronic Publication: 2020 Mar 02.
Autor:
Fiévet A; Institut Curie, PSL Research University, INSERM U830, Paris, France.; Institut Curie, Hôpital, Service de Génétique, Paris, France., Bellanger D; Institut Curie, PSL Research University, INSERM U830, Paris, France., Rieunier G; Institut Curie, PSL Research University, INSERM U830, Paris, France., Dubois d'Enghien C; Institut Curie, Hôpital, Service de Génétique, Paris, France., Sophie J; CHU de Toulouse, Service de Génétique Médicale, Toulouse, France., Calvas P; CHU de Toulouse, Service de Génétique Médicale, Toulouse, France., Carriere JP; Hopital des enfants de Toulouse, Unité de Neuropédiatrie, Toulouse, France., Anheim M; CHU de Strasbourg, Service de Neurologie, Strasbourg, France., Castrioto A; CHU de Grenoble, Pole de Psychiatrie et de Neurologie, Grenoble, France., Flabeau O; CH de la côte Basque, Service de Neurologie, Bayonne, France., Degos B; Département des Maladies du Système Nerveux, Hôpitaux Universitaires Pitié Salpêtrière - Charles Foix, Paris, France., Ewenczyk C; Hôpitaux universitaires Pitié Salpêtrière - Charles Foix, Service de Génétique, Paris, France., Mahlaoui N; Hôpital Necker Enfants Malades, Service d'Immunologie, d'Hématologie et de Rhumatologie Pédiatriques, Paris, France., Touzot F; Hôpital Necker Enfants Malades, Service d'Immunologie, d'Hématologie et de Rhumatologie Pédiatriques, Paris, France., Suarez F; Hôpital Necker Enfants Malades, Service d'Hématologie Adulte, Paris, France., Hully M; Hôpital Necker Enfants Malades, Service de Neurologie Pédiatrique, Paris, France., Roubertie A; CHU de Montpellier, Service de Neuropédiatrie, Montpellier, France., Aladjidi N; CHU de Bordeaux, Service de Pédiatrie, Bordeaux, France., Tison F; CHU de Bordeaux, Département de Neurologie, Bordeaux, France., Antoine-Poirel H; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc & Université Catholique de Louvain, Brussels, Belgium., Dahan K; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc & Université Catholique de Louvain, Brussels, Belgium., Doummar D; Hopital Armand Trousseau, Service de Neurologie Pédiatrique, Paris, France., Nougues MC; CH intercommunal de Créteil, Service de Pédiatrie, Créteil, France., Ioos C; Hôpital Raymond Poincaré, Pôle de Pédiatrie, Garches, France., Rougeot C; Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Bron, France., Masurel A; Hopital d'Enfants de Dijon, Service de Génétique, Dijon, France., Bourjault C; CH de Bretagne sud, Site du Scorff, Service de Pédiatrie, Lorient, France., Ginglinger E; CH de Mulhouse, Service de Génétique, Mulhouse, France., Prieur F; CHU de St Etienne, Hôpital Nord, Service de Génétique Médicale, Saint Etienne, France., Siri A; CHU de Nancy, Service de Neurologie, Nancy, France., Bordigoni P; CHU Nancy, Hôpitaux de Brabois, Service de Pédiatrie II, Vandoeuvre, France., Nguyen K; Département de Génétique Médicale, Hopital de la Timone, Marseille, France., Philippe N; Hopital Debrousse, Service d'Hématologie Pédiatrique, Lyon, France., Bellesme C; GH Cochin-saint-Vincent de Paul, Service d'Endocrinologie et de Neurologie Pédiatrique, Paris, France., Demeocq F; CHU de Clermont-Ferrand, Hôtel Dieu, Service de Pédiatrie B, Clermont-Ferrand, France., Altuzarra C; CHU Besançon, Service de Pédiatrie, Besançon, France., Mathieu-Dramard M; Unité de Génétique Clinique Pédiatrique, Hopital d'Amiens-Nord, Amiens, France., Couderc F; CH d'Aix en Provence - du Pays d'Aix, Service de Pédiatrie, Aix en Provence, France., Dörk T; Gynecology Research Unit, Hannover Medical School, Hannover, Germany., Auger N; Gustave Roussy, Service Génétique des Tumeurs, Villejuif, France., Parfait B; Centre de ressources Biologiques, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France., Abidallah K; Institut Curie, Hôpital, Service de Génétique, Paris, France., Moncoutier V; Institut Curie, Hôpital, Service de Génétique, Paris, France., Collet A; Institut Curie, Hôpital, Service de Génétique, Paris, France., Stoppa-Lyonnet D; Institut Curie, PSL Research University, INSERM U830, Paris, France.; Institut Curie, Hôpital, Service de Génétique, Paris, France.; University Paris Descartes, Sorbonne Paris Cité, Paris, France., Stern MH; Institut Curie, PSL Research University, INSERM U830, Paris, France.; Institut Curie, Hôpital, Service de Génétique, Paris, France.
Publikováno v:
Human mutation [Hum Mutat] 2019 Oct; Vol. 40 (10), pp. 1713-1730. Date of Electronic Publication: 2019 May 17.
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 Aug; Vol. 21 (8), pp. 1897-1898.
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.