Focus On With Dr. Sadek: Genetics of Epilepsy, Part 2

GENETIC TESTING IS A DEVELOPING AND CONTROVERSIAL topic in the management of epilepsy. As medical technology advances there are more options in regards to genetic testing; however, it is important to weigh the benefits and limitations. Testing for genetic causes can be complex and there is no one single test available that can detect all types of epilepsy.

Testing is felt to be most helpful in patients with difficult to control seizures. Sometimes this can provide insight into better selection of treatments including more specific anti-seizure medications or even diet therapies. For patients with a suspected known cause for their epilepsy such as a brain injury, stroke, or tumor, genetic testing is unlikely to be helpful. Negative or “uncertain” gene testing results do not completely rule out genetic causes as some genes may have not yet been identified or it is unclear what role they may have in epilepsy.

While some patients achieve comfort knowing the cause of their diagnosis, it is important to keep in mind that currently there are no specific targeted treatments available to alter or fix the genes themselves. Research in this field is ongoing and there is hope that identification of certain mutations could one day lead to targeted gene therapies; however, further research is still needed. Seeking guidance from an epilepsy specialist or genetic counselor is recommended especially when considering if testing is necessary for family members or future family planning.

Be sure to read Part 1 of this article in the January 2022 issue.