Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
NATURE COMMUNICATIONS, 11(1).
By: H. Hengel, C. Bosso-Lefevre, G. Grady, E. Szenker-Ravi, H. Li, S. Pierce, E. Lebigot, T. Tan ..., M. Eio, G. Narayanan, K. Utami, M. Yau, N. Handal, W. Deigendesch, R. Keimer, H. Marzouqa, M. Gunay-Aygun, M. Muriello, H. Verhelst, S. Weckhuysen, S. Mahida, S. Naidu, T. Thomas, J. Lim, E. Tan, D. Haye, M. Willemsen, R. Oegema, W. Mitchell, T. Pierson, M. Andrews, M. Willing, L. Rodan, T. Barakat, M. Slegtenhorst, R. Gavrilova, D. Martinelli, T. Gilboa, A. Tamim, M. Hashem, M. AlSayed, M. Abdulrahim, M. Al-Owain, A. Awaji, A. Mahmoud, E. Faqeih, A. Al Asmari, S. Algain, L. Jad, H. Aldhalaan, I. Helbig, D. Koolen, A. Riess, I. Kraegeloh-Mann, P. Bauer, S. Gulsuner, H. Stamberger, A. Ng, S. Tang, S. Tohari, B. Keren, L. Schultz-Rogers, E. Klee, S. Barresi, M. Tartaglia, H. Mor-Shaked, S. Maddirevula, A. Begtrup, A. Telegrafi, R. Pfundt, R. Schuele, B. Ciruna, C. Bonnard, M. Pouladi, J. Stewart, A. Claridge-Chang, D. Lefeber, F. Alkuraya, A. Mathuru, B. Venkatesh, J. Barycki, M. Simpson, S. Jamuar, L. Schoels, B. Reversade
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