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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
Tran Mau-Them, F; Guibaud, L; Duplomb, L; Keren, B; Lindstrom, K; Marey, I; Mochel, F; van den Boogaard, M J; Oegema, R; Nava, C; Masurel, A; Jouan, T; Jansen, F E; Au, M; Chen, Agnes H; Cho, M; Duffourd, Y; Lozier, E; Konovalov, F; Sharkov, A; Korostelev, S; Urteaga, B; Dickson, P; Vera, M; Martínez-Agosto, Julián A; Begemann, A; Zweier, M; Schmitt-Mechelke, T; Rauch, A; Philippe, C; van Gassen, K; Nelson, S; Graham, J M; Friedman, J; Faivre, L; Lin, H J; Thauvin-Robinet, C; Vitobello, A.
Affiliation
  • Tran Mau-Them F; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France. frederic.tran-mau-them@u-bourgogne.fr.
  • Guibaud L; INSERM UMR1231 GAD, F-21000, Dijon, France. frederic.tran-mau-them@u-bourgogne.fr.
  • Duplomb L; Universite Claude Bernard Lyon I, CHU de Lyon, Lyon, France.
  • Keren B; Service de Radiologie, Hopital-Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France.
  • Lindstrom K; INSERM UMR1231 GAD, F-21000, Dijon, France.
  • Marey I; Departement de Genetique, Hopital Pitie-Salpetriere, Paris, France.
  • Mochel F; Division of Genetics and Metabolic Phoenix Children's Hospital, Phoenix, Arizona, USA.
  • van den Boogaard MJ; Departement de Genetique, Hopital Pitie-Salpetriere, Paris, France.
  • Oegema R; Departement de Genetique, Hopital Pitie-Salpetriere, 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 epinière, ICM, Paris, France.
  • Masurel A; Reference Center for Adult Neurometabolic Diseases, Pitie-Salpêtrière University Hospital, Paris, France.
  • Jouan T; Department of Genetics, University Medical Center, Utrecht, The Netherlands.
  • Jansen FE; Department of Genetics, University Medical Center, Utrecht, The Netherlands.
  • Au M; Departement de Genetique, Hopital Pitie-Salpetriere, Paris, France.
  • Chen AH; Centre de Reference maladies rares « Anomalies du Developpement et syndrome malformatifs ¼ de l'Est, Centre de Genetique, Hopital d'Enfants, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Cho M; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
  • Duffourd Y; INSERM UMR1231 GAD, F-21000, Dijon, France.
  • Lozier E; Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center, Utrecht, The Netherlands.
  • Konovalov F; Department of Pediatrics, Division of Medical Genetics, Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, Los Angeles, California, USA.
  • Sharkov A; Division of Pediatric Neurology, Department of Pediatrics, Harbor-UCLA Medical Center, Los Angeles, California, USA.
  • Korostelev S; GeneDx, Gaithersburg, Maryland, USA.
  • Urteaga B; INSERM UMR1231 GAD, F-21000, Dijon, France.
  • Dickson P; Genomed Ltd., Moscow, Russia.
  • Vera M; Genomed Ltd., Moscow, Russia.
  • Martínez-Agosto JA; Genomed Ltd., Moscow, Russia.
  • Begemann A; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia.
  • Zweier M; Genomed Ltd., Moscow, Russia.
  • Schmitt-Mechelke T; INSERM UMR1231 GAD, F-21000, Dijon, France.
  • Rauch A; Division of Medical Genetics, Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California, USA.
  • Philippe C; Division of Medical Genetics, Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California, USA.
  • van Gassen K; Departments of Human Genetics and Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
  • Nelson S; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.
  • Graham JM; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.
  • Friedman J; Division of Pediatric Neurology, Children's Hospital, Lucerne, Switzerland.
  • Faivre L; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.
  • Lin HJ; UF Innovation en diagnostic genomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
  • Thauvin-Robinet C; INSERM UMR1231 GAD, F-21000, Dijon, France.
  • Vitobello A; Department of Genetics, University Medical Center, Utrecht, The Netherlands.
Genet Med ; 21(4): 1008-1014, 2019 04.
Article de En | MEDLINE | ID: mdl-30166628
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Crises épileptiques / Protéines nucléaires / Protéines de transport / Épilepsie / Troubles du développement neurologique Type d'étude: Prognostic_studies Limites: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Langue: En Journal: Genet Med Sujet du journal: GENETICA MEDICA Année: 2019 Type de document: Article Pays d'affiliation: France
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Crises épileptiques / Protéines nucléaires / Protéines de transport / Épilepsie / Troubles du développement neurologique Type d'étude: Prognostic_studies Limites: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Langue: En Journal: Genet Med Sujet du journal: GENETICA MEDICA Année: 2019 Type de document: Article Pays d'affiliation: France