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Perenthaler, E. and Nikoncuk, A. and Yousefi, S. and Berdowski, W. M. and Alsagob, M. and Capo, I. and van der Linde, H. C. and van den Berg, P. and Jacobs, E. H. and Putar, D. and Ghazvini, M. and Aronica, E. and van Ijcken, W. F. J. and de Valk, W. G. and Medici-van den Herik, E. and van Slegtenhorst, M. and Brick, L. and Kozenko, M. and Kohler, J. N. and Bernstein, J. A. and Monaghan, K. G. and Begtrup, A. and Torene, R. and Al Futaisi, A. and Al Murshedi, F. and Mani, R. and Al Azri, F. and Kamsteeg, E. J. and Mojarrad, M. and Eslahi, A. and Khazaei, Z. and Darmiyan, F. M. and Doosti, M. and Karimiani, E. G. and Vandrovcova, J. and Zafar, F. and Rana, N. and Kandaswamy, K. K. and Hertecant, J. and Bauer, P. and AlMuhaizea, M. A. and Salih, M. A. and Aldosary, M. and Almass, R. and Al-Quait, L. and Qubbaj, W. and Coskun, S. and Alahmadi, K. O. and Hamad, M. H. A. and Alwadaee, S. and Awartani, K. and Dababo, A. M. and Almohanna, F. and Colak, D. and Dehghani, M. and Mehrjardi, M. Y. V. and Gunel, M. and Ercan-Sencicek, A. G. and Passi, G. R. and Cheema, H. A. and Efthymiou, S. and Houlden, H. and Bertoli-Avella, A. M. and Brooks, A. S. and Retterer, K. and Maroofian, R. and Kaya, N. and van Ham, T. J. and Barakat, T. S. (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. Acta Neuropathologica.
