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

Hengel, Holger; Bosso-Lefevre, Celia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; Lebigot, Elise; 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, Michel 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.; Al Asmari, Ali; 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; Schuele, 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.; Schoels, Ludger; Reversade, Bruno

dc.contributor.author	Hengel, Holger
dc.contributor.author	Bauer, Peter
dc.contributor.author	Riess, Angelika
dc.contributor.author	Krägeloh-Mann, Ingeborg
dc.contributor.author	Schüle-Freyer, Rebecca
dc.contributor.author	Schöls, Ludger
dc.date.accessioned	2021-01-11T10:33:17Z
dc.date.available	2021-01-11T10:33:17Z
dc.date.issued	2020
dc.identifier.issn	2041-1723
dc.identifier.uri	http://hdl.handle.net/10900/111310
dc.language.iso	en	de_DE
dc.publisher	Nature Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/s41467-020-14360-7	de_DE
dc.subject.ddc	500	de_DE
dc.title	Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20200929220116_01069
utue.personen.roh	Hengel, Holger
utue.personen.roh	Bosso-Lefevre, Celia
utue.personen.roh	Grady, George
utue.personen.roh	Szenker-Ravi, Emmanuelle
utue.personen.roh	Li, Hankun
utue.personen.roh	Pierce, Sarah
utue.personen.roh	Lebigot, Elise
utue.personen.roh	Tan, Thong-Teck
utue.personen.roh	Eio, Michelle Y.
utue.personen.roh	Narayanan, Gunaseelan
utue.personen.roh	Utami, Kagistia Hana
utue.personen.roh	Yau, Monica
utue.personen.roh	Handal, Nader
utue.personen.roh	Deigendesch, Werner
utue.personen.roh	Keimer, Reinhard
utue.personen.roh	Marzouqa, Hiyam M.
utue.personen.roh	Gunay-Aygun, Meral
utue.personen.roh	Muriello, Michael J.
utue.personen.roh	Verhelst, Helene
utue.personen.roh	Weckhuysen, Sarah
utue.personen.roh	Mahida, Sonal
utue.personen.roh	Naidu, Sakkubai
utue.personen.roh	Thomas, Terrence G.
utue.personen.roh	Lim, Jiin Ying
utue.personen.roh	Tan, Ee Shien
utue.personen.roh	Haye, Damien
utue.personen.roh	Willemsen, Michel A. A. P.
utue.personen.roh	Oegema, Renske
utue.personen.roh	Mitchell, Wendy G.
utue.personen.roh	Pierson, Tyler Mark
utue.personen.roh	Andrews, Marisa V.
utue.personen.roh	Willing, Marcia C.
utue.personen.roh	Rodan, Lance H.
utue.personen.roh	Barakat, Tahsin Stefan
utue.personen.roh	van Slegtenhorst, Marjon
utue.personen.roh	Gavrilova, Ralitza H.
utue.personen.roh	Martinelli, Diego
utue.personen.roh	Gilboa, Tal
utue.personen.roh	Tamim, Abdullah M.
utue.personen.roh	Hashem, Mais O.
utue.personen.roh	AlSayed, Moeenaldeen D.
utue.personen.roh	Abdulrahim, Maha M.
utue.personen.roh	Al-Owain, Mohammed
utue.personen.roh	Awaji, Ali
utue.personen.roh	Mahmoud, Adel A. H.
utue.personen.roh	Faqeih, Eissa A.
utue.personen.roh	Al Asmari, Ali
utue.personen.roh	Algain, Sulwan M.
utue.personen.roh	Jad, Lamyaa A.
utue.personen.roh	Aldhalaan, Hesham M.
utue.personen.roh	Helbig, Ingo
utue.personen.roh	Koolen, David A.
utue.personen.roh	Riess, Angelika
utue.personen.roh	Kraegeloh-Mann, Ingeborg
utue.personen.roh	Bauer, Peter
utue.personen.roh	Gulsuner, Suleyman
utue.personen.roh	Stamberger, Hannah
utue.personen.roh	Ng, Alvin Yu Jin
utue.personen.roh	Tang, Sha
utue.personen.roh	Tohari, Sumanty
utue.personen.roh	Keren, Boris
utue.personen.roh	Schultz-Rogers, Laura E.
utue.personen.roh	Klee, Eric W.
utue.personen.roh	Barresi, Sabina
utue.personen.roh	Tartaglia, Marco
utue.personen.roh	Mor-Shaked, Hagar
utue.personen.roh	Maddirevula, Sateesh
utue.personen.roh	Begtrup, Amber
utue.personen.roh	Telegrafi, Aida
utue.personen.roh	Pfundt, Rolph
utue.personen.roh	Schuele, Rebecca
utue.personen.roh	Ciruna, Brian
utue.personen.roh	Bonnard, Carine
utue.personen.roh	Pouladi, Mahmoud A.
utue.personen.roh	Stewart, James C.
utue.personen.roh	Claridge-Chang, Adam
utue.personen.roh	Lefeber, Dirk J.
utue.personen.roh	Alkuraya, Fowzan S.
utue.personen.roh	Mathuru, Ajay S.
utue.personen.roh	Venkatesh, Byrappa
utue.personen.roh	Barycki, Joseph J.
utue.personen.roh	Simpson, Melanie A.
utue.personen.roh	Jamuar, Saumya S.
utue.personen.roh	Schoels, Ludger
utue.personen.roh	Reversade, Bruno
dcterms.isPartOf.ZSTitelID	Nature Communications	de_DE
dcterms.isPartOf.ZS-Issue	Article 595	de_DE
dcterms.isPartOf.ZS-Volume	11	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE