Epilepsy

"We continue to look for solutions to cure epilepsy or improve the quality of life of our patients, we investigate the use of new drugs".

DR. MARI CRUZ RODRÍGUEZ
DIRECTOR. EPILEPSY RESEARCH GROUP

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.

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Objectives of the Epilepsy
Research Group

To investigate the causative genetic alterations and determine the genetic variants responsible for drug resistance.

To identify risk factors associated with drug-resistant epilepsies.

Detect new therapeutic targets and biomarkers associated with the disease itself.

Disease-specific animal models

FROM THE LABORATORY TO THE CLINIC

Epilepsy and infantile epilepsies

Thanks to the results of our research, we develop new animal models of the disease that allow us to deepen our understanding of the disease, identify new therapeutic targets and biomarkers associated with the disease itself.

With our experimental models we evaluate the therapeutic capacity of treatments in development.