EEC 2022 | Who should be offered genetic testing for epilepsy?
Reetta Kälviäinen, MD, PhD, University of Eastern Finland, Kuopio University Hospital, Kuopio, Finland, shares her expertise on the evolving role of genetic testing in epilepsy. Not only are more and more genetic etiologies being uncovered, but optimized treatment approaches that consider genetic information are also being implemented. There are now many scenarios where genetic testing can provide data that can be acted upon to improve patient outcomes. For example, early onset epilepsy, patients with epilepsy and intellectual disabilities or cognitive regression, and the presence of dysmorphic features are all scenarios where genetics are likely to be involved. While the earliest developments in this space identified genes responsible for familial epilepsies, a wealth of literature now shows that sporadic cases also often have a genetic basis, with de novo pathogenic variants in epilepsy-associated genes now recognized as having a major role in epilepsy etiology. This interview took place at the 14th European Epilepsy Congress (EEC) 2022 in Geneva, Switzerland.
Transcript (edited for clarity)
Well, the scene of genetic testing has rapidly changed. And I think every clinician doing diagnostics of epilepsy should be now more and more aware of the possibilities of genetic testing. So I think we rarely used that earlier, but now I think more and more, we should be aware of the possibilities and especially of course, early-onset epilepsy. So earlier the onset is, the more possibilities there are to be found genetic reasons and etiologies for the epilepsy...
Well, the scene of genetic testing has rapidly changed. And I think every clinician doing diagnostics of epilepsy should be now more and more aware of the possibilities of genetic testing. So I think we rarely used that earlier, but now I think more and more, we should be aware of the possibilities and especially of course, early-onset epilepsy. So earlier the onset is, the more possibilities there are to be found genetic reasons and etiologies for the epilepsy. That’s for sure, but then of course, also later on, if the person has intellectual disabilities, for example, any kind, not only severe ones, but also milder ones, some cognitive developmental problems, learning difficulties. That’s a sign that we should already start to think about genetic testing. Then dysmorphic features of course, could be a sign of possibilities to find something.
And so these are signals of genetic things and we must remember that genetic is not equal to familial. So we are not talking about epilepsies that you should find in the family. That’s of course, an indication to do genetic testing, but majority of the mutations that we currently find, they are de novo mutations. So new mutations in the patient that we are looking at. Then personally I’m really interested in progressive myoclonic epilepsies, which do not start early; many of them do not start early. Some of them do, but many of them start in perfectly healthy child or teenager later on. And then you start to have tonic-clonic seizures and then myoclonic seizures. And then you start to have also other neurological symptoms like cognitive problems or ataxia or other things. And that’s again, another other field where we currently have many, many, many new genetic diseases. So for example, these are some of the very interesting areas where more and more genetic testing can be used and new diseases are found.
Read more...
