Epilepsy

Epilepsy is characterized by abnormal electrical activity in the brain that causes sudden seizures including violent convulsions and loss of consciousness. It affects approximately 3% of the population. In 50% of cases it has a genetic origin, as in the case of Dravet syndrome, a rare disease associated with a mutation in the SCN1A gene in 75% of cases.

Most treatments are aimed at preventing the onset of seizures. When seizures are resistant to drugs, surgical approaches may be used. However, in some cases neither pharmacological nor surgical treatment achieves a significant reduction in seizures that improves the patient's quality of life.

In the Epilepsy Group at Cima we investigate what processes cause the genetic alterations that cause the disease and risk factors associated with drug-resistant epilepsies. To this end, we carry out genome-wide association studies of patients and next-generation sequencing techniques in order to determine the genetic variants responsible for drug resistance. 

Our professionals are expert basic and clinical researchers specialized in different areas such as genetics, biochemistry, neurophysiology, neuropediatrics, among others.