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

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