Many people with epilepsy are the first in their family to have it. Often, genetic testing can uncover a gene mutation for someone with epilepsy that is not found in other family members, and was not passed down from a parent. This is called a de novo, or new, gene mutation in a family.
In other families, gene changes that cause epilepsy can be inherited from earlier generations. Your healthcare provider can talk with you more about the inheritance pattern of epilepsy in your family.
Genetic testing can make a big difference in the journey with epilepsy. It may end the search for a diagnosis and may lead to finding the best treatment for you or your family member. However, genetic testing has limitations. For instance, not everyone has epilepsy with a genetic cause that can be uncovered by current testing. Some epilepsy may be due to other factors, such as differences in how the brain is formed during early development, damage from injuries, or lack of oxygen to the brain.
Please share any questions or concerns you have with your healthcare provider. Click here to learn more about the pros and cons of the testing process.