Investigating the role of non-coding variations in epilepsy

Epilepsy is a neurological disorder that causes recurrent seizures and affects about 3% of the population. Although many genetic factors linked to epilepsy have already been identified, the underlying genetic cause remains unknown for a large proportion of people living with the condition. This project focuses on parts of the genome that have received relatively little attention in previous studies, including non-coding DNA regions that may nevertheless play an important role in brain function and the development of epilepsy. By combining genetic data, genealogical information, and artificial intelligence approaches, researchers are working to identify new genetic variations associated with the disease. The project has already led to the discovery of several new genetic variants that are likely involved in epilepsy and has significantly improved the ability to identify potential genetic causes in affected individuals. The analyses have also shown that certain forms of epilepsy, particularly genetic generalized epilepsy, carry a higher burden of rare potentially harmful genetic variants than the general population. These findings contribute to a better understanding of the biological mechanisms underlying epilepsy and may ultimately support more accurate diagnosis and the development of new treatment strategies.

• Genetics and genomics

• Genetic data
• Questionnaire data