IEC 2021 | The impact of epilepsy genetics in clinical practice
Iscia Lopes-Cendes, MD, PhD, University of Campinas, Campinas, Brazil, describes how epilepsy genetics impacts clinical practice. Prof. Lopes-Cendes highlights the importance of the diagnosis of early-onset epileptic encephalopathy for genetic counseling and the development of treatments. Steps towards the development of specific treatments of epilepsy have begun, and there is the potential to see developments in drug design for monogenic epilepsy. There are not yet updates on the genetic diagnosis of polygenic epilepsy, however, Prof. Lopes-Cendes hopes to see progress on this in the near future. This interview took place during the 34th International Epilepsy Congress, 2021.
Transcript (edited for clarity)
That is actually an area that makes me very enthusiastic because when I started to work on the genetics of epilepsy, we’re basically talking about research 20 years ago. But currently we’re able to help patients in clinical practice every day, because with the genetic testing, genetic tests that are currently available, we can discover mutations or variants that are pathogenic for most monogenic epilepsies...
That is actually an area that makes me very enthusiastic because when I started to work on the genetics of epilepsy, we’re basically talking about research 20 years ago. But currently we’re able to help patients in clinical practice every day, because with the genetic testing, genetic tests that are currently available, we can discover mutations or variants that are pathogenic for most monogenic epilepsies. And I’d like to highlight especially the early-onset epilepsies, the epilepsies that affect children. And especially a group among them, which are the epileptic encephalopathies, which are very severe forms of epilepsy. Usually, they are associated with developmental delay and they’re hard to treat. So finding a genetic etiology in these cases is very important for the family. First, because you confirm that there is a genetic etiology involved. So this can be used for further genetic counseling.
But we’re starting to see that there are individualized treatments for specific genetic etiologies. So we’re starting to learn that there are some forms of childhood epilepsy, with specific mutations that respond better to specific treatments. In another area, there are some efforts still in the research area of developing more specific treatments for specific molecular diagnoses. And I believe that in the near future, we’ll see a lot of developments of drugs that are designed for specific mutations in genes responsible for the monogenic epilepsies.
In another front, the epilepsies that are polygenic in nature in which we’re not able to find one causal gene, but we have probably multiple genes that predispose to epilepsy. And these are the most common ones, although we’re not yet able to offer a genetic diagnosis. In recent years, there has been a lot of developments in terms of finding genes that predispose to disease. So I believe that in the near future, we’ll be able to also offer to these patients tests that will identify some of these predisposing mutations. And hopefully we’ll be able to act up on these discoveries to improve therapy as well.
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