November is National Epilepsy Awareness Month!

Epilepsy is the fourth most common neurological disorder and affects people of all ages. Over 5 million people in the United States have epilepsy. The goal of National Epilepsy Awareness Month is to promote epilepsy awareness and create change for those who live with the condition. In support of this goal, we wanted to answer some common epilepsy-related questions and discuss the role genetics plays in epilepsy.

Are seizures and epilepsy the same thing?

Kind of. Epilepsy basically means “seizure disorder.” A seizure is a sudden surge of electrical activity in the brain that impacts people in many different ways. Seizures themselves are not a disease, but instead a symptom of many different epilepsy conditions. An electroencephalogram, or EEG, is a test used to detect seizure activity in the brain. A normal EEG does not mean a person does not have seizures, only that a seizure did not occur during the EEG procedure.

Do all seizures present with muscle convulsions?

No. Some people will have physical presentations such as convulsions (shaking), tense muscles, difficulty talking, staring spells, and/or repetitive movements. Others may experience sensory changes or altered awareness, such as confusion, loss of consciousness, and/or unusual tastes and smells.

Are there different types of epilepsy?

Yes, there are many different types of epilepsy conditions. The different types of epilepsy can be classified into syndromes, grouped by certain features that tend to occur together. These features can include age that seizures begin, seizure type, part of the brain affected, and/or genetic factors. Classifying a person’s specific epilepsy syndrome can provide information about the best treatments, medications, what triggers to avoid, future prognosis, and whether others in the family may also experience epilepsy.

What causes epilepsy?

There are many different causes of epilepsy. The Epilepsy Foundation groups the causes of epilepsy into five categories:

Genetic: spontaneously occurring and/or inherited errors in gene(s)
Structural: an abnormality in the way the brain formed
Metabolic: disruption in the way the body uses food to make energy which can result in a build up of substances in brain cells
Immune-related: brain inflammation from a protein (abnormal antibody) that alters brain function
Infection: an infection of the brain

About 50% of those with epilepsy know the cause of their epilepsy. This means for about half of individuals living with epilepsy the cause is unknown. For those whose cause is unknown, genetics is suspected to play a significant role. Importantly, epilepsy can occur alone or as part of a genetic syndrome with other body system involvement.

What role does genetics play in epilepsy?

Over the years, epidemiological and twin studies support the theory that epilepsy has an underlying genetic cause. Epidemiological studies help us determine how often diseases occur in different groups of people and why, and twin studies help us understand what role genetics and environmental factors play in the development of a disorder. Over the past ten years there has been a rapid growth in the discovery of epilepsy-related genes. Almost 1,000 epilepsy-associated genes have been identified, the majority of which are important for brain development and cell to cell communication within the brain. It is important to remember that genetic does not mean inherited. For example, a genetic cause can be identified in a person with epilepsy that is not present in either of his/her parents. Rather, the genetic cause occurred brand new in the person.

Is genetic testing beneficial for people with epilepsy?

YES! With the rapid discovery of epilepsy-related genes, genetic testing can now identify a genetic cause for a person’s epilepsy in many cases. Understanding the cause may provide additional information about other associated neurological or medical conditions that may already be present or develop over time. A patient’s neurologist can also use this information to assist in medication choices. Further, genetic counselors can review these results with families to assess potential risks for other family members.