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, 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. Bernstein, Kristin 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, Stephanie Efthymiou, Henry Houlden, Aida M. Bertoli-Avella, Reza Maroofian, Kyle Retterer, Alice S. Brooks, Tjakko J. van Ham, Tahsin Stefan Barakat
bioRxiv 799841; doi: https://doi.org/10.1101/799841 New Results
