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  1. An Unorthodox Disease Mechanism

An Unorthodox Disease Mechanism

Elena Perenthaler, MSc Anita Nikoncuk Soheil Yousefi, Ph.D Woutje M Berdowski Maysoon Alsagob, MSc Ivan Capo Herma C. van der Linde Paul van den Berg Edwin H. Jacobs Darija Putar Mehrnaz Ghazvini, PhD Eleonora Aronica, MD, PhD Wilfred Van IJcken, Dr ir Walter G. de Valk Evita Medici-van den Herik Marjon van Slegtenhorst Lauren Brick Mariya Kozenko Jennefer N. Kohler Jonathan Bernstein, MD Kristin G Monaghan Amber Begtrup Rebecca I. Torene Amna Al Futaisi, MD, FRCPC, FRCPCH Fathiya Al Murshedi Renjith Mani Faisal Al Azri Erik-Jan Kamsteeg Majid Mojarrad Atieh Eslahi Zaynab Khazaei Fateme Massinaei Darmiyan Mohammad Doosti, PhD Ehsan Ghayoor Karimiani, MD MRes PhD Jana Vandrovcova Faisal Zafar Nuzhat Rana Krishna Kumar Kandaswamy, PhD Jozef Hertecant Dr. Peter Bauer, MD Mohammed A. AlMuhaizea Mustafa Salih, MD, Dr Med Sci, FRCPCH, FAAN Mazhor Aldosary Rawan Mohammedomar 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, MD, PhD Mohammad Yahya Vahidi Mehrjardi Murat Gunel Ad Gulhan Ercan-Sencicek, PhD Gouri Rao Passi Huma Arshad Cheema Stephanie Efthymiou, BSc MSc PhD Henry Houlden, MD PhD Aida M. Bertoli-Avella, MD Alice S Brooks Kyle Retterer Reza Maroofian, PhD Namik Kaya, MSc, PhD Tjakko J Van Ham Tahsin Stefan Barakat, PhD, MD
December 09, 2019

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

Essential proteins are defined as those that are necessary for living. In theory, homozygous loss-of-function variants that only affect certain isoforms may still be found in living individuals. A recent study involving patients that were identified at CENTOGENE presents one of the first examples of a disease-relevance of this rare constellation. It was published in the highly prestigious journal, Acta Neuropathologica.