Perenthaler E, Nikoncuk A, Yousefi S, Berdowski W, Alsagob M, Capo I, et al. 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 Neuropathol. 2020;139:415-442 pubmed publisher