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- Research interest:The focus of my research group is the elucidation of the molecular basis of genetic epilepsies. State-of-the-art genetic strategies resulted in the identification of several novel disease genes, such as de novo KCNQ2 mutations in neonatal epileptic encephalopathy. Using non-neuronal and iPSC derived neuronal cel models, we further study the effect of mutations on normal gene functioning. We have a close connection with the Neurology department at the UZA Hospital, where the PI is responsible for the epilepsy clinic. In the last years we have grown from a genetic research lab to a lab that works from bed (deep phenotyping of patients) to bench (genetic diagnosis and functional characterization) and back to bedside (therapeutic strategies).
- Keywords:ENCEPHALOPATHY, HUMAN MOLECULAR GENETICS, EPILEPSY, Medicine
- Disciplines:Genetics, Neurological and neuromuscular diseases, Developmental neuroscience
- Research techniques:Gene identification studies, next generation sequencing analysis, disease modelling using iPSC derived neuronal cultures
- Users of research expertise:Clinicians caring for people with epilepsy, researchers interested in studying effects of variants in epilepsy (candidate) genes, companies interested in developing precision medicine approach for genetic epilepsies