Priority 1 from the Epilepsy (Canada) PSP

UNCERTAINTY: Can genetic markers be used to diagnose and treat epilepsy and seizure disorders? (JLA PSP Priority 1)
Overall ranking 1
JLA question ID 0110/1
Explanatory note Previous research has uncovered a strong link between certain DNA sequences and the development of epilepsy. Currently, there are hundreds of genes that are related to epilepsy. Some run in families, and some occur spontaneously in an individual. Understanding the role of these genes in the development of epilepsy can help to answer key questions, such as a person's risk of developing epilepsy, the chances that a child will inherit epilepsy from a parent, and how genes interact with the environment to affect disease onset. Many epilepsy syndromes have been linked to changes in particular genes, and genetic testing may be able to provide a clear diagnosis in some cases. In addition, genetic markers may help researchers to predict how an individual may respond to a specific anti-seizure drug. There is no single treatment that works for all people, and a "trial and error" approach is often used. With more information about how genes can affect treatment responsiveness, an individualized approach to epilepsy treatment may be possible. Researchers can also use this information to develop new treatments that specifically target these genetic changes.   

Offringa, M., Newton, R., Cozijnsen, M. A., & Nevitt, S. J. (2017). Prophylactic drug management for febrile seizures in children. Cochrane Database of Systematic Reviews(2). doi:10.1002/14651858.CD003031.pub3

Scottish Intercollegiate Guidelines Network (SIGN). Diagnosis and management of epilepsy in adults. Edinburgh: SIGN; 2015.
(SIGN publication no. 143). [May 2015]. Available from URL:

Health Research Classification System category Neurological
Extra information provided by this PSP
Original uncertainty examples  Is it possible that epilepsy could be genetic in some cases? ~ What is the genetic pathways affected, and how does this differ between types of epilepsy and whether it is treatment refractory. ~ What are ALL the different types of seizures, not just the most common ones?  How is Juvenile Myoclonic Epilepsy passed on? ~ Are there specific genes that identify someone will have epilepsy?    Why do some people grow out of seizures and others do not?
Submitted by People with Seizures x 47, Caregivers x 14, Friend or Family Member x 21, Health Care provider x 11, Community Agency Representative x 1, Other x 2
PSP information
PSP unique ID 0110
PSP name Epilepsy (Canada)
Total number of uncertainties identified by this PSP. 96  (To see a full list of all uncertainties identified, please see the detailed spreadsheet held on the JLA website)
Date of priority setting workshop 6th & 7th April 2021