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Loss-of-function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Holger Hengel,Célia Bosso-Lefèvre,George Grady,Emmanuelle Szenker-Ravi,Hankun Li,Sarah Pierce,Élise 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,Michèl 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 D. AlSayed,Maha M. Abdulrahim,Mohammed Al-Owain,Ali Awaji,Adel A. H. Mahmoud,Eissa A. Faqeih,Ali Al Asmari, Sulwan M. Algain,Lamyaa A. Jad,Hesham M. Aldhalaan,Ingo Helbig,David A. Koolen,Angelika Riess,Ingeborg Kraegeloh-Mann,Peter Bauer,Suleyman Gulsuner,Hannah Stamberger,Alvin Yu Jin Ng,Sha Tang,Sumanty Tohari,Boris Keren,Laura E. Schultz-Rogers,Eric W. Klee,Sabina Barresi,Marco Tartaglia,Hagar Mor-Shaked,Sateesh Maddirevula,Amber Begtrup,Aida Telegrafi,Rolph Pfundt,Rebecca Schüle,Brian Ciruna,Carine Bonnard,Mahmoud A. Pouladi,James C. Stewart,Adam Claridge-Chang,Dirk J. Lefeber,Fowzan S. Alkuraya,Ajay S. Mathuru,Byrappa Venkatesh,Joseph J. Barycki,Melanie A. Simpson,Saumya S. Jamuar,Ludger Schöls,Bruno Reversade

Nature Communications（2020）

引用 40|浏览62
关键词
Clinical genetics,Encephalopathy,Glycobiology,Neuronal development,Science,Humanities and Social Sciences,multidisciplinary
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