Genetics of Epilepsy

As science and medicine continue to advance, so does the knowledge for the role genetics may play in epilepsy. While many people with epilepsy often worry if they will pass their epilepsy to future generations, they should be reassured that this risk is typically quite low.

Inherited vs. Mutations

It is important to distinguish that not all genetic causes of epilepsy are inherited. In some situations, the genetic cause can be a new mutation that happens for the first time and thus there may be no family history of epilepsy. Other types of epilepsies are inherited, meaning they are passed down between generations and there is often a strong family history of epilepsy.

The Odds

If a person has a first degree relative with epilepsy it is estimated that the likelihood of developing epilepsy by age of 40 is less than 1 in 20 (Peljto et al., 2014). It is felt that generalized epilepsy (seizures involving the whole brain) carry an increased genetic risk compared to focal epilepsies (those that originate from one specific part of the brain). The likelihood of inheriting epilepsy can also depend on the specific gene and its inheritance pattern.

Low Risk

Overall, most people with epilepsy will not have children that will develop seizures or epilepsy. Research indicates that siblings of children with epilepsy may have a slight increased risk of having the disease but this is still felt to be low. People with a known genetic cause to their epilepsy may benefit from meeting with a genetic counselor, particularly when planning for future pregnancies.

Next Steps

A genetic counselor can perform a detailed history, provide guidance on genetic testing, and assist in interpretation and explanation of results. Concerns regarding the cause of your epilepsy and need for genetic testing should be first discussed with your epilepsy specialist who can provide you with individualized guidance on genetic concerns regarding your epilepsy.

Be sure to read Part 2 of this article coming in March 

Source: By Dr. Ahmed Sadek

Dr. Sadek is the Director of Orlando Epilepsy Center. He is an Assistant Professor of Neurology at the University of Central Florida College of Medicine and a Clinical Assistant Professor of Neurology at the University of Florida Shands, Gainesville. Dr. Sadek is triple Board certified in Neurology, Clinical Neurophysiology, and Epilepsy.  He is also a Board Member of the Epilepsy Association created of