The research focus of the Junior research group is the identification of genetic causes and molecular mechanisms of rare, inherited brain malformations in children. These brain abnormalities usually result in different forms of infantile developmental delay and retardation syndromes. Many of paediatric patients affected with brain malformations remain undiagnosed using classical molecular diagnostics. We are mainly interested in an identification of novel genes and/or genetic variants responsible for congenital brain abnormalities. Functional analyses of the underlying pathogenic mechanisms and biological signalling pathways using in-vitro and/or in-vivo models are essential to further understand the newly identified genetic defects.