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Researcher

Sarah Weckhuysen

  • Research Expertise  (University of Antwerp):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).
  • Research techniques  (University of Antwerp):Gene identification studies, next generation sequencing analysis, disease modelling using iPSC derived 2D and 3D neuronal cultures
  • Users of research expertise  (University of Antwerp):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