Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
- Authors
- M.M. Abdulrahim
- M. Al-Owain
- H.M. Aldhalaan
- S.M. Algain
- F.S. Alkuraya
- M.D. AlSayed
- M.V. Andrews
- A.A. Asmari
- A. Awaji
- T.S. Barakat
- S. Barresi
- J.J. Barycki
- P. Bauer
- A. Begtrup
- C. Bonnard
- C. Bosso-Lefèvre
- B. Ciruna
- A. Claridge-Chang
- W. Deigendesch
- M.Y. Eio
- E.A. Faqeih
- R.H. Gavrilova
- T. Gilboa
- G. Grady
- S. Gulsuner
- M. Gunay-Aygun
- N. Handal
- M.O. Hashem
- D. Haye
- I. Helbig
- H. Hengel
- L.A. Jad
- S.S. Jamuar
- R. Keimer
- B. Keren
- E.W. Klee
- D.A. Koolen
- I. Kraegeloh-Mann
- É. Lebigot
- D.J. Lefeber
- H. Li
- J.Y. Lim
- S. Maddirevula
- S. Mahida
- A.A.H. Mahmoud
- D. Martinelli
- H.M. Marzouqa
- A.S. Mathuru
- W.G. Mitchell
- H. Mor-Shaked
- M.J. Muriello
- S. Naidu
- G. Narayanan
- A.Y.J. Ng
- R. Oegema
- R. Pfundt
- S. Pierce
- T.M. Pierson
- M.A. Pouladi
- B. Reversade
- A. Riess
- L.H. Rodan
- L.E. Schultz-Rogers
- L. Schöls
- R. Schüle
- M.A. Simpson
- H. Stamberger
- J.C. Stewart
- E. Szenker-Ravi
- A.M. Tamim
- E.S. Tan
- T.-T. Tan
- S. Tang
- M. Tartaglia
- A. Telegrafi
- T.G. Thomas
- S. Tohari
- K.H. Utami
- M. van Slegtenhorst
- B. Venkatesh
- H. Verhelst
- S. Weckhuysen
- M.A.A.P. Willemsen
- M.C. Willing
- M. Yau
- Publication date
- 1 January 2020
- Publisher
- 'Springer Science and Business Media LLC'
- Doi
Abstract
10.1038/s41467-020-14360-7Nature Communications11159Similar works
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Last time updated on 29/05/2021