Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Autor: Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany., Bosso-Lefèvre C; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.; National University of Singapore, Department of Paediatrics, Yong Loo Lin School of Medicine, Biopolis, Singapore, Singapore., Grady G; Department of Molecular and Structural Biochemistry North Carolina State University, Raleigh, NC, 27607, USA., Szenker-Ravi E; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore., Li H; Yale-NUS College, 12 College Avenue West, Biopolis, Singapore, Singapore., Pierce S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Lebigot É; Service De Biochimie, Hopital Bicêtre, Assistance publique-Hôpitaux de Paris, 78 avenue du general leclerc, Le Kremlin Bicêtre, France., Tan TT; Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis, Singapore, 138648, Singapore., Eio MY; Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis, Singapore, 138648, Singapore., Narayanan G; Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis, Singapore, 138648, Singapore., Utami KH; Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore., Yau M; Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada., Handal N; Caritas Baby Hospital Bethlehem, Bethlehem, State of Palestine., Deigendesch W; Caritas Baby Hospital Bethlehem, Bethlehem, State of Palestine., Keimer R; Ped Neurology, Staufer Hospital, Wetzgauer Straße 85, Schwäbisch-Gmünd, Germany., Marzouqa HM; Caritas Baby Hospital Bethlehem, Bethlehem, State of Palestine., Gunay-Aygun M; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA., Muriello MJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA., Verhelst H; Department of Paediatric Neurology, Ghent University Hospital, Ghent, Belgium., Weckhuysen S; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium., Mahida S; Division of Neurology and Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Naidu S; Division of Neurology and Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Thomas TG; Neurology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore., Lim JY; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Tan ES; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Haye D; 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., Willemsen MAAP; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Mitchell WG; Neurology Division, Childrens Hospital Los Angeles & Department of Neurology, Keck School of Medicine of University of Southern California, Los Angeles, CA, 90033, USA., Pierson TM; Department of Pediatrics, Department of Neurology, & the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Willing MC; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Rodan LH; Division of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands., Gavrilova RH; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, USA., Martinelli D; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15, 00146, Rome, Italy., Gilboa T; Child Neurology Unit, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel., Tamim AM; Pediatric Neurology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hashem MO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., AlSayed MD; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulrahim MM; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Awaji A; Department of Pediatrics, King Fahad Central Hospital in Jizan, Abu Arish, Saudi Arabia., Mahmoud AAH; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Faqeih EA; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Asmari AA; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Algain SM; General Pediatrics and Adolescents, King Fahad Medical City, Riyadh, Saudi Arabia., Jad LA; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Aldhalaan HM; Neuroscience Department King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Helbig I; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Riess A; Institute of Medical Genetics and Applied Genomics (Tübingen) and Centogene AG (Rostock), Rostock, Germany., Kraegeloh-Mann I; Department of Pediatric Neurology, University of Tübingen, Tübingen, Germany., Bauer P; Institute of Medical Genetics and Applied Genomics (Tübingen) and Centogene AG (Rostock), Rostock, Germany., Gulsuner S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Stamberger H; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium., Ng AYJ; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore., Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA., Tohari S; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore., Keren B; APHP, GH Pitié Salpêtrière, Department of Genetics, Unit of Development Genomics, Paris, France., Schultz-Rogers LE; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, USA., Klee EW; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, USA., Barresi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15, 00146, Rome, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15, 00146, Rome, Italy., Mor-Shaked H; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel., Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA., Telegrafi A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Schüle R; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany., Ciruna B; Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada., Bonnard C; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore., Pouladi MA; Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore.; Department of Physiology, National University of Singapore, Singapore, 117597, Singapore.; Department of Medicine, National University of Singapore, Singapore, 117597, Singapore., Stewart JC; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore., Claridge-Chang A; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.; Program in Neuroscience and Behavioral Disorders, Duke-NUS Medical School, Singapore, Singapore., Lefeber DJ; Department of Neurology, Donders Center for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory, Nijmegen, The Netherlands., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Mathuru AS; Yale-NUS College, 12 College Avenue West, Biopolis, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore., Venkatesh B; National University of Singapore, Department of Paediatrics, Yong Loo Lin School of Medicine, Biopolis, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore., Barycki JJ; Department of Molecular and Structural Biochemistry North Carolina State University, Raleigh, NC, 27607, USA., Simpson MA; Department of Molecular and Structural Biochemistry North Carolina State University, Raleigh, NC, 27607, USA., Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore., Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. ludger.schoels@uni-tuebingen.de.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany. ludger.schoels@uni-tuebingen.de., Reversade B; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore. bruno@reversade.com.; National University of Singapore, Department of Paediatrics, Yong Loo Lin School of Medicine, Biopolis, Singapore, Singapore. bruno@reversade.com.; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore. bruno@reversade.com.; Medical Genetics Department, Koç University School of Medicine, 34010, Istanbul, Turkey. bruno@reversade.com.; Reproductive Biology Laboratory, Obstetrics and Gynaecology, Academic Medical Center (AMC), Meibergdreef 9, 1105 AZ, Amsterdam-Zuidoost, The Netherlands. bruno@reversade.com.

Publikováno v: Nature communications [Nat Commun] 2020 Jan 30; Vol. 11 (1), pp. 595. Date of Electronic Publication: 2020 Jan 30.