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

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Date: June 6, 2023
Authors:
Abdullah M Tamim, Adam Claridge-Chang, Adel A H Mahmoud, Aida Telegrafi, Ajay Mathuru, Ali AlAsmari, Ali Awaji, Alvin Yu Jin Ng, Amber Begtrup, Angelika Riess, Boris Keren, Brian Ciruna, Bruno Reversade, Byrappa Venkatesh, Carine Bonnard, Celia Bosso-Lefevre, Damien Haye, David A. Koolen, Diego Martinelli, Dirk Lefeber, Ee Shien Tan, Eissa Ali Faqeih, Elise Lebigot, Emmanuell Szenker-Ravi, Eric W. Klee, Fowzan Alkuraya, George Grady, Gunaseelan Narayanan, Hager Mor-Shaked, Hankun Li, Hannah Stamberger, Helene Verhelst, Hesham Aldhalaan, Hiyam M Marzouqa, Holger Hengel, Ingeborg Krägeloh-Mann, Ingo Helbig, James Stewart, Jiin Ying Lim, Joseph Barycki, Kagistia Hana Utami, Lamyaa A Jad, Lance H. Rodan, Laura E Shultz-Rogers, Ludger Schöls, Maha Abdulrahim, Mahmoud Pouladi, Mais O Hashem, Marcia C. Willing, Marco Tartaglia, Marisa V. Andrews, Marjon van Slegtenhorst, Melanie Simpson, Meral Gunay-Aygun, Michael J Muriello, Michel A A P Willemsen, Michelle Y Eio, Moeenaldeen AlSayed, Mohammed Al-Owain, Monica Yau, Nader Handal, Peter Bauer, Ralitza H. Gavrilova, Rebecca Schüle, Reinhard Keimer, Renske Oegema, Rolph Pfundt, Sabina Barresi, Sakkubai Naidu, Sarah Pierce, Sarah Weckhuysen, Sateesh Maddirevula, Saumya Jamuar, Sha Tang, Sonal Mahida, Suleyman Gulsuner, Sulwan Algain, Sumanty Tohari, Tahsin Stefan Barakat, Tal Gilboa, Terrence G Thomas, Thong-Teck Tan, Tyler Mark Pierson, Wendy G Mitchell, Werner Deigendesch
Journal: Nature Communications
Journal Volume: 11