Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
Elena Perenthaler(Erasmus MC), Salem Alwadaee(King Faisal Specialist Hospital & Research Centre), Rawan Almass(King Faisal Specialist Hospital & Research Centre), Kristin G. Monaghan, Mustafa A. Salih(King Saud University), Soheil Yousefi(Erasmus MC), Khaled O. Alahmadi(King Faisal Specialist Hospital & Research Centre), Evita Medici-van den Herik(Erasmus MC), Fateme Massinaei Darmiyan(University of Sistan and Baluchestan), Mehrnaz Ghazvini(Erasmus MC), Mohammad Doosti, Edwin H. Jacobs(Erasmus MC), Laila AlQuait(King Faisal Specialist Hospital & Research Centre), Fathiya Al Murshedi(Sultan Qaboos University Hospital), Lauren Brick(McMaster University), Nuzhat Rana, Maysoon Alsagob(King Faisal Specialist Hospital & Research Centre), Zaynab Khazaei, Amber Begtrup, Serdar Coşkun(King Faisal Specialist Hospital & Research Centre), Faisal Al Azri(Sultan Qaboos University Hospital), Wafa Qubbaj(King Faisal Specialist Hospital & Research Centre), Jana Vandrovcová(National Hospital for Neurology and Neurosurgery), Marjon van Slegtenhorst(Erasmus MC), Mohammed A. AlMuhaizea(King Faisal Specialist Hospital & Research Centre), Woutje M. Berdowski(Erasmus MC), Majid Mojarrad(Mashhad University of Medical Sciences), Walter G. de Valk(Erasmus MC), Ehsan Ghayoor Karimiani(Manchester Academic Health Science Centre), Atieh Eslahi(Mashhad University of Medical Sciences), Rebecca I. Torene, Herma C. van der Linde(Erasmus MC), Jozef Hertecant(Tawam Hospital), Wilfred F. J. van IJcken(Erasmus MC), Peter Bauer(Centogene (Germany)), Amna Al‐Futaisi(Sultan Qaboos University Hospital), Mariya Kozenko(McMaster University), Krishna Kumar Kandaswamy(Centogene (Germany)), Renjith Mani(Sultan Qaboos University), Ivan Čapo(University of Novi Sad), Darija Putar(Erasmus MC), Jonathan A. Bernstein(Lucile Packard Children's Hospital), Jennefer N. Kohler(Stanford University), Paul van den Berg(Erasmus MC), Mazhor Aldosary(King Faisal Specialist Hospital & Research Centre), Faisal Zafar, Erik-Jan Kamsteeg(Radboud University Nijmegen), Eleonora Aronica(University Medical Center Utrecht), Muddathir H. Hamad(King Saud University), Anita Nikoncuk(Erasmus MC)
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