Article

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

Nature communications - 30 Jan 2020

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, Helbig Ingo, Koolen David A, Riess Angelika, Kraegeloh-Mann Ingeborg, Bauer Peter, Gulsuner Suleyman, Stamberger Hannah, Ng Alvin Yu Jin, Tang Sha, Tohari Sumanty, Keren Boris, Schultz-Rogers Laura E, Klee Eric W, Barresi Sabina, Tartaglia Marco, Mor-Shaked Hagar, Maddirevula Sateesh, Begtrup Amber, Telegrafi Aida, Pfundt Rolph, Schüle Rebecca, Ciruna Brian, Bonnard Carine, Pouladi Mahmoud A, Stewart James C, Claridge-Chang Adam, Lefeber Dirk J, Alkuraya Fowzan S, Mathuru Ajay S, Venkatesh Byrappa, Barycki Joseph J, Simpson Melanie A, Jamuar Saumya S, Schöls Ludger, Reversade Bruno