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), Tahsin Stefan Barakat(Erasmus University Rotterdam), Tjakko J. van Ham(Erasmus MC), Soheil Yousefi(Erasmus MC), Evita Medici-van den Herik(Erasmus MC), Fateme Massinaei Darmiyan(University of Sistan and Baluchestan), Stéphanie Efthymiou(Queen Mary University of London), Mehrnaz Ghazvini(Erasmus MC), Mohammad Doosti, Edwin H. Jacobs(Erasmus MC), Fathiya Al Murshedi(Sultan Qaboos University Hospital), Lauren Brick(McMaster University), Nuzhat Rana, Kyle Retterer(Geisinger Health System), Zaynab Khazaei, Amber Begtrup, Faisal Al Azri(Sultan Qaboos University Hospital), Jana Vandrovcová(National Hospital for Neurology and Neurosurgery), Marjon van Slegtenhorst(Erasmus MC), Woutje M. Berdowski(Erasmus MC), Majid Mojarrad(Mashhad University of Medical Sciences), Walter G. de Valk(Erasmus MC), Ehsan Ghayoor Karimiani(St George's, University of London), Atieh Eslahi(Mashhad University of Medical Sciences), Aida M. Bertoli‐Avella(Centogene (Germany)), Rebecca I. Torene(Geisinger Medical Center), Henry Houlden(Queen Mary University of London), Reza Maroofian(University College London), 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), Kristin G. Monaghan, Jonathan A. Bernstein(Stanford Medicine), Alice S. Brooks(Erasmus MC), Jennefer N. Kohler(Stanford University), Paul van den Berg(Erasmus MC), Faisal Zafar, Eleonora Aronica(Amsterdam Neuroscience), Erik-Jan Kamsteeg(Radboud University Nijmegen), Anita Nikoncuk(Erasmus MC)
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