Scientists at the University of California have discovered 69 new genes that carry mutations that cause epilepsy. The results of the research 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 treatment, but scientists’ discovery may fix this problem. Studying the genes found can help diagnose and treat particularly persistent forms of epilepsy.
Thus, these genes may explain the causes of malformations of the cerebral cortex. This is the general name for areas of damaged or abnormal brain tissue that interfere with brain function.
The study involved nearly 300 people who went through the removal of these damaged areas. Through somatic mutation profiling, the scientists identified 69 of the aforementioned genes. The scientists also created mouse models – the scientists recreated mutations in these rodent genes. As a result, the mice experienced the same problems as human patients.