Jovana Kovačević was a PhD student at the Department of Functional Genomics, CNCR, Vrije University Amsterdam. She investigated the mouse model for STXBP1-encephalopathies in order to better understand the disease mechanism and to develop model for future therapy design. She has generated and characterized an Stxbp1+/- mouse model. Stxbp1+/- mouse model has the same genetic cause as the STXBP1-encephalopathies in patients and it mimics haploinsufficiency in vivo. Stxbp1+/- mice show epileptic and EEG features remarkably similar to human patients and cognitive deficits. This mouse model give us an opportunity to further investigate disease mechanisms by using different in vitro and in vivo techniques.
Jovana has defended her thesis entitled ‘Multilevel phenotyping of mouse models for neurodevelopmental disorders’ in November 2022.