Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Authors: Holger Hengel; Celia Bosso-Lefevre; George Grady; Emmanuell Szenker-Ravi; Hankun Li; Sarah Pierce; Elise Lebigot; Thong-Teck Tan; Michelle Y Eio; Gunaseelan Narayanan; Kagistia Hana Utami; Monica Yau; Nader Handal; Werner Deigendesch; Reinhard Keimer; Hiyam M Marzouqa; Meral Gunay-Aygun; Michael J Muriello; Helene Verhelst; Sarah Weckhuysen; Sonal Mahida; Sakkubai Naidu; Terrence G Thomas; Jiin Ying Lim; Ee Shien Tan; Damien Haye; Michel A A P Willemsen; Renske Oegema; Wendy G Mitchell; Tyler Mark Pierson; Marisa V. Andrews; Marcia C. Willing; Lance H. Rodan; Tahsin Stefan Barakat; Marjon van Slegtenhorst; Ralitza H. Gavrilova; Diego Martinelli; Tal Gilboa; Abdullah M Tamim; Mais O Hashem; Moeenaldeen AlSayed; Maha Abdulrahim; Mohammed Al-Owain; Ali Awaji; Adel A H Mahmoud; Eissa Ali Faqeih; Ali AlAsmari; Sulwan Algain; Lamyaa A Jad; Hesham Aldhalaan; Ingo Helbig; David A. Koolen; Angelika Riess; Ingeborg Krägeloh-Mann; Peter Bauer; Suleyman Gulsuner; Hannah Stamberger; Alvin Yu Jin Ng; Sha Tang; Sumanty Tohari; Boris Keren; Laura E Shultz-Rogers; Eric W. Klee; Sabina Barresi; Marco Tartaglia; Hager Mor-Shaked; Sateesh Maddirevula; Amber Begtrup; Aida Telegrafi; Rolph Pfundt; Rebecca Schüle; Brian Ciruna; Carine Bonnard; Mahmoud Pouladi; James Stewart; Adam Claridge-Chang; Dirk Lefeber; Fowzan Alkuraya; Ajay Mathuru; Byrappa Venkatesh; Joseph Barycki; Melanie Simpson; Saumya Jamuar; Ludger Schöls; Bruno Reversade
Collaborators: APHP, GH Pitié Salpêtrière, Department of Genetics, Unit of Development Genomics; Boston Children's Hospital; Caritas Baby Hospital Bethlehem; Center for Molecular Neurology, VIB; CHU De Nice Hôpital de l'Archet; Department of Neurology, Donders Center for Brain, Cognition, and Behavior, Nijmegen, The Netherlands; Duke-NUS Medical School; Femme Mère Enfant Hospital; GeneDx; Ghent University Hospital; Hadassah-Hebrew University Medical Center; Institute of Medical Biology, A*STAR, Biopolis; Johns Hopkins University School of Medicine; Kennedy Krieger Institute; King Faisal Specialist Hospital and Research Center; KK Women's and Children's Hospital, Singapore; Koç University School of Medicine; Mass General Brigham Laboratory for Molecular Medicine; Mayo Clinic; National University of Singapore; North Carolina State University; Ospedale Pediatrico Bambino Gesù; Service De Biochimie, Hopital Bicêtr; Staufer Hospital; The Hospital for Sick Children, The University of Toronto; University Medical Center Göttingen; University Medical Center Utrecht; University of Antwerp; University of Tübingen; University of Washington; Washington University School of Medicine, St. Louis Children’s Hospital; Yale-NUS College; Yong Loo Lin School of Medicine