Scientists at the University of California have discovered 69 new genes that carry mutations that cause epilepsy. The results of the study were published in the journal Nature Genetics.
According to the author of the work, epilepsy is a common disease that is difficult to treat. About 20% of patients do not respond to therapy, but the discovery of scientists can correct this problem. Studying the found genes could help diagnose and treat particularly persistent forms of epilepsy.
So, these genes can explain the causes of malformations of the cerebral cortex. This is a general name for damaged or abnormal areas of brain tissue that interfere with brain function.
The study involved almost 300 people who underwent removal of these damaged areas. Through somatic mutation profiling, scientists have identified 69 of the aforementioned genes. Scientists have also created mouse models – scientists have recreated mutations in these rodent genes. As a result, mice suffered from the same problems as human patients.