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Research areas

In this section, pediatricians, neurologists, neurophysiologists, geneticists, and basic researchers work closely together on research within genetic epilepsies.

Our goals are:

  1. To identify new genes that can cause neurological and developmental disorders, structural brain malformations, and epilepsy.
  2. To understand the molecular mechanisms underlying the studied diseases by investigating the consequences of genetic changes at the cellular level.
  3. To understand the relationship between the specific genetic defect and the associated clinical symptoms. Detailed electro-clinical descriptions of various genetic epilepsies are being prepared, and the possibility of developing new targeted treatment methods is being explored. To achieve this, we have collected health data on a large group of patients with epilepsy with their consent. These patients all have known disease-causing genetic variants as the cause of their epilepsy.
  4. To investigate potential new and/or alternative treatment options based on the genetic knowledge we obtain.

 

Overview of our publications

Last Updated 27.07.2024