Genetic epilepsy

Genetic changes are one of the six possible causes of epilepsy as described by an international group of health care professionals and scientists, the International League Against Epilepsy (ILAE).

• A “genetic” epilepsy is caused by a change in the sequence (or spelling) of a gene associated with epilepsy and is rare.
• A genetic cause means that there is a change in the instructions (or genes) that make us who we are. 

Genetic testing is useful in some types of epilepsy, including more severe genetic epilepsies that involve other symptoms (e.g. intellectual disability, Autism (level II/III), behavioural issues, sleep disturbance, or visual problems). 

• Genetic testing is more helpful in severe epilepsies which may be caused by a change in a single gene that is important for brain function.
• In other types of epilepsies such as childhood absence epilepsy, juvenile myoclonic epilepsy, there are small changes in multiple genes that increase the risk of epilepsy. In these cases genetic testing is less helpful and usually not done. 

Occasionally where there is a clear family history of epilepsy, genetic testing may also be helpful where an inherited form of epilepsy is suspected.

Content in this chapter was adapted from the GenE Compass project.