What is genetic epilepsy?
Genetic changes play a critical role in most forms of epilepsy. In 20-50% of individuals with epilepsy their symptoms can be explained by an alteration in one specific gene. These conditions are known as monogenic epilepsies, and they are the genetic epilepsies most likely to be identified on currently available clinical genetic testing. Monogenic conditions can be inherited, or can arise ‘de novo’, meaning that the affected individual is the first in the family with the condition. There are over 900 genes that have been associated with monogenic epilepsy.
Epilepsy can also arise from genetic changes that occur in only some of the cells of an individual’s body, including the brain. These are known as somatic genetic mutations. Somatic genetic mutations can be associated with cellular changes in the brain that lead to epilepsy with or without brain malformations. These somatic genetic alterations are infrequently detected on current blood or cheek swab testing; researchers are working on how to better identify them.
Many epilepsy syndromes occur because of genetic differences in not one, but many, genes. These are known as polygenic conditions. Researchers are studying how we can better define and test for the polygenic contributions to epilepsy.
Why study adults with genetic epilepsy?
The GEAN collaborators believe that it is critical to study and learn from our adult patients with known or suspected genetic epilepsy. These individuals hold the key to accelerating genetic discoveries and genetic-informed treatments for epilepsy.
For children and families with newly diagnosed genetic epilepsy, adults with the same genetic condition can provide a window into the future. Often our adult patients with genetic epilepsy teach us that affected people can live longer and better than has been previously reported. This is in part because early reports tend to focus on the most severe cases and because our treatments and knowledge of these conditions is improving.
For researchers and drug developers, understanding the experiences of adults with genetic epilepsy can help them appreciate which symptoms are most important to target in adults. It can also lead to development of treatments that improve the long-term outcomes for individuals with genetic epilepsy.
Here are some of the important questions GEAN is working to answer:
Genetic Testing:
Which genetic testing strategies are best for adults with epilepsy?
What is the diagnostic yield of genetic testing in adults with epilepsy?
How can we expand access to genetic testing, genetic diagnosis and genetic treatments for all patients with epilepsy?
Natural History and Transitional Care:
What are the specific needs of adults with genetic epilepsy and how can the healthcare system support them?
How do the symptoms of genetic epilepsies change over the course of adulthood?
Which symptoms are most important to adult patients with genetic epilepsy and their families?
Other Genetic Contributions to Epilepsy:
For the over 50% of adult patients with epilepsy who will not discover a diagnostic result on genetic testing, what are the genetic factors that contribute to their epilepsy and how can we develop better treatments for them?
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