Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Nature Communications
Hengel, Holger H; Bosso-Lefèvre, Célia C; Grady, George G; Szenker-Ravi, Emmanuelle E; Li, Hankun H; Pierce, Sarah S; Lebigot, Élise É; Tan, Thong-Teck TT; Eio, Michelle Y MY; Narayanan, Gunaseelan G; Utami, Kagistia Hana KH; Yau, Monica M; Handal, Nader N; Deigendesch, Werner W; Keimer, Reinhard R; Marzouqa, Hiyam M HM; Gunay-Aygun, Meral M; Muriello, Michael J MJ; Verhelst, Helene H; Weckhuysen, Sarah S; Mahida, Sonal S; Naidu, Sakkubai S; Thomas, Terrence G TG; Lim, Jiin Ying JY; Tan, Ee Shien ES; Haye, Damien D; Willemsen, Michèl A A P MAAP; Oegema, Renske R; Mitchell, Wendy G WG; Pierson, Tyler Mark TM; Andrews, Marisa V MV; Willing, Marcia C MC; Rodan, Lance H LH; Barakat, Tahsin Stefan TS; van Slegtenhorst, Marjon M; Gavrilova, Ralitza H RH; Martinelli, Diego D; Gilboa, Tal T; Tamim, Abdullah M AM; Hashem, Mais O MO; AlSayed, Moeenaldeen D MD; Abdulrahim, Maha M MM; Al-Owain, Mohammed M; Awaji, Ali A; Mahmoud, Adel A H AAH; Faqeih, Eissa A EA; Asmari, Ali Al AA; Algain, Sulwan M SM; Jad, Lamyaa A LA; Aldhalaan, Hesham M HM; Helbig, Ingo I; Koolen, David A DA; Riess, Angelika A; Kraegeloh-Mann, Ingeborg I; Bauer, Peter P; Gulsuner, Suleyman S; Stamberger, Hannah H; Ng, Alvin Yu Jin AYJ; Tang, Sha S; Tohari, Sumanty S; Keren, Boris B; Schultz-Rogers, Laura E LE; Klee, Eric W EW; Barresi, Sabina S; Tartaglia, Marco M; Mor-Shaked, Hagar H; Maddirevula, Sateesh S; Begtrup, Amber A; Telegrafi, Aida A; Pfundt, Rolph R; Schüle, Rebecca R; Ciruna, Brian B; Bonnard, Carine C; Pouladi, Mahmoud A MA; Stewart, James C JC; Claridge-Chang, Adam A; Lefeber, Dirk J DJ; Alkuraya, Fowzan S FS; Mathuru, Ajay S AS; Venkatesh, Byrappa B; Barycki, Joseph J JJ; Simpson, Melanie A MA; Jamuar, Saumya S SS; Schöls, Ludger L; Reversade, Bruno B