Our goals are:
- To identify new genes that can cause neurological and developmental disorders, structural brain malformations, and epilepsy.
- To understand the molecular mechanisms underlying the studied diseases by investigating the consequences of genetic changes at the cellular level.
- 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.
- To investigate potential new and/or alternative treatment options based on the genetic knowledge we obtain.
