Drafting
oldest genetic research of this type, coordinated by the International Epilepsy League, found specific DNA changes that increase the risk of developing epilepsy. The study, published in the journal Nature Genetics, represents a major step forward in understanding the causes of epilepsy and could lead to new treatments for the condition.
In doing so, the researchers compared the DNA of various groups of nearly 30,000 people with epilepsy with the DNA of 52,500 people without epilepsy. They identified 26 different regions of our DNA that appear to be involved in epilepsy. Between them 19 are specific to a particular form of epilepsy called “genetic generalized epilepsy” (GGE).. They were also able to identify 29 genes that may contribute to epilepsy in these DNA regions.
“A better understanding of the genetic basis of epilepsy is key to developing new therapeutic options and improving the quality of life of patients. More than 50 million people in the world suffer from epilepsy.the teacher says Gianpiero CavalleriProfessor, Department of Human Genetics, Faculty of Pharmacy and Biomolecular Sciences from the Royal College of Surgeons of Ireland (RSCI), and deputy director from FutureNeuro Research Center SFI.
The study demonstrated genetic diversity between different types of epilepsy, with particular interest in focal and generalized epilepsy.
Moreover, they found that the genetic pattern was quite different when comparing different types of epilepsy. In particular, when comparing “focal” and “generalized” epilepsy. The results also show that proteins that carry electrical impulses across the spaces between neurons in our brain are part of the risk of generalized forms of epilepsy.
“With this study, we have marked parts of our genome that should be the focus of future epilepsy research. This will form the basis of future research into the molecular pathways involved in seizures, neuronal dysfunction, and changes in brain activity.” emphasizes the professor. Samuel Berkovich of the University of Melbourne.
The study was conducted by more than 150 researchers from Europe, Australia, Asia, South America and North America. They collaborated with the International League Against Epilepsy (ILAE) Consortium for Complex Epilepsies. The ILAE Consortium was formed by researchers in 2010, recognizing that the complexity of the genetic and environmental factors that underlie epilepsy will require the exploration of huge datasets and therefore unprecedented collaboration on an international scale.