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, Anita Nikoncuk, Soheil Yousefi, Woutje M. Berdowski, Maysoon Alsagob, Ivan Capo, Herma C. van der Linde, Paul van den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F.J. van IJcken, Walter G. de Valk, Evita Medici-van den Herik, Marjon van Slegtenhorst, Lauren Brick, Mariya Kozenko, Jennefer N. Kohler, Jonathan A. BernsteinKristin G. Monaghan, Amber Begtrup, Rebecca Torene, Amna Al Futaisi, Fathiya Al Murshedi, Renjith Mani, Faisal Al Azri, Erik Jan Kamsteeg, Majid Mojarrad, Atieh Eslahi, Zaynab Khazaei, Fateme Massinaei Darmiyan, Mohammad Doosti, Ehsan Ghayoor Karimiani, Jana Vandrovcova, Faisal Zafar, Nuzhat Rana, Krishna K. Kandaswamy, Jozef Hertecant, Peter Bauer, Mohammed A. AlMuhaizea, Mustafa A. Salih, Mazhor Aldosary, Rawan Almass, Laila Al-Quait, Wafa Qubbaj, Serdar Coskun, Khaled O. Alahmadi, Muddathir H.A. Hamad, Salem Alwadaee, Khalid Awartani, Anas M. Dababo, Futwan Almohanna, Dilek Colak, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Murat Gunel, A. Gulhan Ercan-Sencicek, Gouri Rao Passi, Huma Arshad Cheema, Stephanie Efthymiou, Henry Houlden, Aida M. Bertoli-Avella, Alice S. Brooks, Kyle Retterer, Reza Maroofian, Namik Kaya, Tjakko J. van Ham, Tahsin Stefan Barakat^*إظهار 49 المزيدإظهار أقل