GeneticsActa NeuropathologicaPeer-reviewed
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…·Tahsin Stefan Barakat
The paper identifies a recurrent start codon mutation in UGP2 causing a severe epileptic encephalopathy, showing that isoform-specific expression loss of an essential gene can lead to disease.