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

UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH stability, oligomerization, or enzymatic activity i...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/669f0574667343e2aba272d086c020c6
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:669f0574667343e2aba272d086c020c6
record_format	dspace
spelling	oai:doaj.org-article:669f0574667343e2aba272d086c020c62021-12-02T17:33:12ZLoss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy10.1038/s41467-020-14360-72041-1723https://doaj.org/article/669f0574667343e2aba272d086c020c62020-01-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-14360-7https://doaj.org/toc/2041-1723UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH stability, oligomerization, or enzymatic activity in vitro.Holger HengelCélia Bosso-LefèvreGeorge GradyEmmanuelle Szenker-RaviHankun LiSarah PierceÉlise LebigotThong-Teck TanMichelle Y. EioGunaseelan NarayananKagistia Hana UtamiMonica YauNader HandalWerner DeigendeschReinhard KeimerHiyam M. MarzouqaMeral Gunay-AygunMichael J. MurielloHelene VerhelstSarah WeckhuysenSonal MahidaSakkubai NaiduTerrence G. ThomasJiin Ying LimEe Shien TanDamien HayeMichèl A. A. P. WillemsenRenske OegemaWendy G. MitchellTyler Mark PiersonMarisa V. AndrewsMarcia C. WillingLance H. RodanTahsin Stefan BarakatMarjon van SlegtenhorstRalitza H. GavrilovaDiego MartinelliTal GilboaAbdullah M. TamimMais O. HashemMoeenaldeen D. AlSayedMaha M. AbdulrahimMohammed Al-OwainAli AwajiAdel A. H. MahmoudEissa A. FaqeihAli Al AsmariSulwan M. AlgainLamyaa A. JadHesham M. AldhalaanIngo HelbigDavid A. KoolenAngelika RiessIngeborg Kraegeloh-MannPeter BauerSuleyman GulsunerHannah StambergerAlvin Yu Jin NgSha TangSumanty TohariBoris KerenLaura E. Schultz-RogersEric W. KleeSabina BarresiMarco TartagliaHagar Mor-ShakedSateesh MaddirevulaAmber BegtrupAida TelegrafiRolph PfundtRebecca SchüleBrian CirunaCarine BonnardMahmoud A. PouladiJames C. StewartAdam Claridge-ChangDirk J. LefeberFowzan S. AlkurayaAjay S. MathuruByrappa VenkateshJoseph J. BaryckiMelanie A. SimpsonSaumya S. JamuarLudger SchölsBruno ReversadeNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
description	UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH stability, oligomerization, or enzymatic activity in vitro.
format	article
author	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
author_facet	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
author_sort	Holger Hengel
title	Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
title_short	Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
title_full	Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
title_fullStr	Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
title_full_unstemmed	Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
title_sort	loss-of-function mutations in udp-glucose 6-dehydrogenase cause recessive developmental epileptic encephalopathy
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/669f0574667343e2aba272d086c020c6
work_keys_str_mv	AT holgerhengel lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT celiabossolefevre lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT georgegrady lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT emmanuelleszenkerravi lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT hankunli lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT sarahpierce lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT eliselebigot lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT thongtecktan lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT michelleyeio lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT gunaseelannarayanan lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT kagistiahanautami lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT monicayau lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT naderhandal lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT wernerdeigendesch lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT reinhardkeimer lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT hiyammmarzouqa lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT meralgunayaygun lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT michaeljmuriello lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT heleneverhelst lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT sarahweckhuysen lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT sonalmahida lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT sakkubainaidu lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT terrencegthomas lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT jiinyinglim lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT eeshientan lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT damienhaye lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT michelaapwillemsen lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT renskeoegema lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT wendygmitchell lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT tylermarkpierson lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT marisavandrews lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT marciacwilling lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT lancehrodan lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT tahsinstefanbarakat lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT marjonvanslegtenhorst lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT ralitzahgavrilova lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT diegomartinelli lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT talgilboa lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT abdullahmtamim lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT maisohashem lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT moeenaldeendalsayed lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT mahamabdulrahim lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT mohammedalowain lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT aliawaji lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT adelahmahmoud lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT eissaafaqeih lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT alialasmari lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT sulwanmalgain lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT lamyaaajad lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT heshammaldhalaan lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT ingohelbig lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT davidakoolen lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT angelikariess lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT ingeborgkraegelohmann lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT peterbauer lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT suleymangulsuner lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT hannahstamberger lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT alvinyujinng lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT shatang lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT sumantytohari lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT boriskeren lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT lauraeschultzrogers lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT ericwklee lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT sabinabarresi lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT marcotartaglia lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT hagarmorshaked lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT sateeshmaddirevula lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT amberbegtrup lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT aidatelegrafi lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT rolphpfundt lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT rebeccaschule lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT brianciruna lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT carinebonnard lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT mahmoudapouladi lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT jamescstewart lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT adamclaridgechang lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT dirkjlefeber lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT fowzansalkuraya lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT ajaysmathuru lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT byrappavenkatesh lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT josephjbarycki lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT melanieasimpson lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT saumyasjamuar lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT ludgerschols lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy AT brunoreversade lossoffunctionmutationsinudpglucose6dehydrogenasecauserecessivedevelopmentalepilepticencephalopathy
_version_	1718380004497162240

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

Ejemplares similares