Your browser doesn't support javascript.
loading
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel, Holger; Bosso-Lefèvre, Célia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; Lebigot, Élise; Tan, Thong-Teck; Eio, Michelle Y; Narayanan, Gunaseelan; Utami, Kagistia Hana; Yau, Monica; Handal, Nader; Deigendesch, Werner; Keimer, Reinhard; Marzouqa, Hiyam M; Gunay-Aygun, Meral; Muriello, Michael J; Verhelst, Helene; Weckhuysen, Sarah; Mahida, Sonal; Naidu, Sakkubai; Thomas, Terrence G; Lim, Jiin Ying; Tan, Ee Shien; Haye, Damien; Willemsen, Michèl A A P; Oegema, Renske; Mitchell, Wendy G; Pierson, Tyler Mark; Andrews, Marisa V; Willing, Marcia C; Rodan, Lance H; Barakat, Tahsin Stefan; van Slegtenhorst, Marjon; Gavrilova, Ralitza H; Martinelli, Diego; Gilboa, Tal; Tamim, Abdullah M; Hashem, Mais O; AlSayed, Moeenaldeen D; Abdulrahim, Maha M; Al-Owain, Mohammed; Awaji, Ali; Mahmoud, Adel A H; Faqeih, Eissa A; Asmari, Ali Al; Algain, Sulwan M; Jad, Lamyaa A; Aldhalaan, Hesham M.
Afiliación
  • Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Bosso-Lefèvre C; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Grady G; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.
  • Szenker-Ravi E; National University of Singapore, Department of Paediatrics, Yong Loo Lin School of Medicine, Biopolis, Singapore, Singapore.
  • Li H; Department of Molecular and Structural Biochemistry North Carolina State University, Raleigh, NC, 27607, USA.
  • Pierce S; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.
  • Lebigot É; Yale-NUS College, 12 College Avenue West, Biopolis, Singapore, Singapore.
  • Tan TT; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
  • Eio MY; Service De Biochimie, Hopital Bicêtre, Assistance publique-Hôpitaux de Paris, 78 avenue du general leclerc, Le Kremlin Bicêtre, France.
  • Narayanan G; Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis, Singapore, 138648, Singapore.
  • Utami KH; Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis, Singapore, 138648, Singapore.
  • Yau M; Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis, Singapore, 138648, Singapore.
  • Handal N; Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore.
  • Deigendesch W; Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada.
  • Keimer R; Caritas Baby Hospital Bethlehem, Bethlehem, State of Palestine.
  • Marzouqa HM; Caritas Baby Hospital Bethlehem, Bethlehem, State of Palestine.
  • Gunay-Aygun M; Ped Neurology, Staufer Hospital, Wetzgauer Straße 85, Schwäbisch-Gmünd, Germany.
  • Muriello MJ; Caritas Baby Hospital Bethlehem, Bethlehem, State of Palestine.
  • Verhelst H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
  • Weckhuysen S; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
  • Mahida S; Department of Paediatric Neurology, Ghent University Hospital, Ghent, Belgium.
  • Naidu S; Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Thomas TG; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Lim JY; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
  • Tan ES; Division of Neurology and Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Haye D; Division of Neurology and Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Willemsen MAAP; Neurology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
  • Oegema R; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
  • Mitchell WG; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.
  • Pierson TM; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.
  • Andrews MV; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
  • Willing MC; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.
  • Rodan LH; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.
  • Barakat TS; Service de Génétique Médicale, CHU De Nice Hôpital de l'Archet 2, 151 route Saint Antoine de la Ginestière, CS 23079 062002, Nice, Cedex 3, France.
  • van Slegtenhorst M; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gavrilova RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Martinelli D; Neurology Division, Childrens Hospital Los Angeles & Department of Neurology, Keck School of Medicine of University of Southern California, Los Angeles, CA, 90033, USA.
  • Gilboa T; Department of Pediatrics, Department of Neurology, & the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Tamim AM; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
  • Hashem MO; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
  • AlSayed MD; Division of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Abdulrahim MM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.
  • Al-Owain M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.
  • Awaji A; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, USA.
  • Mahmoud AAH; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15, 00146, Rome, Italy.
  • Faqeih EA; Child Neurology Unit, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel.
  • Asmari AA; Pediatric Neurology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Algain SM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Jad LA; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Aldhalaan HM; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Nat Commun ; 11(1): 595, 2020 01 30.
Article en En | MEDLINE | ID: mdl-32001716
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oxidorreductasas / Uridina Difosfato Glucosa Deshidrogenasa / Epilepsia / Mutación con Pérdida de Función / Genes Recesivos Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2020 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oxidorreductasas / Uridina Difosfato Glucosa Deshidrogenasa / Epilepsia / Mutación con Pérdida de Función / Genes Recesivos Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2020 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido