Epilepsy is a neurological disorder that affects over 50 million people globally (1). It is characterized by recurrent seizures, which are episodes of abnormal brain activity.

While the cause of epilepsy is still unknown in approximately 50% of cases worldwide (1), scientific studies have revealed that genes can influence the risk of developing epilepsy.

This post will examine the role of genetics in epilepsy, the types of epilepsy influenced by genetics, and the ongoing research in this field.

What is Genetics?

Genetics is the study of genes, which are found in our DNA (short for deoxyribonucleic acid). DNA holds our unique genetic code and is like an instruction manual for building and operating your body. Our genes are like specific chapters in the instruction manual, which guide the creation and functioning of different parts of your body.

Information coded for by genes is passed down from parents to their children. Characteristics such as blood type and eye color are examples of traits transmitted through genes.

Variations in the genetic code, either passed down from parents or developed spontaneously, can result in changes to the way our brain or body functions.

The Role of Genetics in Epilepsy

In some cases, genetic variations can increase the risk of developing epilepsy. These variations can be inherited from a parent, or individuals can be born with a new genetic variation. Scientists have identified over 500 genes that can influence the risk of developing the condition (2). These genes are involved in various aspects of brain function, including the regulation of brain activity, the transmission of electrical signals in the brain, and the development of brain structures.

However, having one or more of these genes does not necessarily mean a person will definitely develop epilepsy. In many cases, genetic epilepsy occurs due to a combination of genetic and environmental risk factors. Examples of environmental risk factors that may trigger the condition include brain injury, stressful experiences during early life stages, or certain illnesses.

Types of Epilepsy Influenced by Genetics

There are several types of epilepsy in which genetics play a key role. These include childhood epilepsy syndromes such as Juvenile Myoclonic Epilepsy, which is caused by specific genetic variations.

Genetic Generalized Epilepsy (GGE), previously known as Idiopathic Generalized Epilepsy, is another type of epilepsy where genetics are a primary factor. GGE often runs in families, suggesting a strong genetic influence.

Other examples of specific genetic epilepsies include Angelman Syndrome, and epilepsies related to variations in the CDKL5, KCNTI, PCDH19, and SCN1A genes.

Ongoing Research in Epilepsy and Genetics

Research into the genetic basis of epilepsy is ongoing. Advances in genetic testing have made it possible to identify specific genetic variations that cause some forms of epilepsy. This has led to improved diagnosis and treatment options. For instance, some anti-seizure medications are particularly effective for certain genetic types of epilepsy.

A recent meta-analysis of over 29,000 people with epilepsy identified 26 DNA areas linked to the condition, revealing distinct genetic differences between epilepsy subtypes (3).

Ongoing research may further enhance our understanding of how genetics influences the development of epilepsy and potentially lead to more targeted, effective treatments in the future.

‍

‍Resources

(1) WHO Epilepsy Fact Sheet

(2) Epilepsy-associated genes

(3) Epilepsy genetics meta-analysis

‍