Many types of epilepsy are linked to gene mutations. These mutations can be inherited from your parents or develop de novo, meaning they arise spontaneously.

Epilepsy is a neurological condition characterized by recurrent seizures.

It affects about 1.2% of people in the United States. In about half of cases, the cause of epilepsy can’t be identified. Genetic factors likely contribute to many of these cases. Hundreds of gene mutations have been linked to certain types of epilepsy, and researchers continue to discover more.

Gene mutations can be inherited or develop spontaneously without being present in either of your parents.

Read on to learn more about the role your genetics play in the development of epilepsy.

Inherited epilepsy vs. genetic mutation epilepsy

Some types of epilepsy are linked to inherited genes passed through families. Epilepsy caused by inherited genes usually clusters in families.

Epilepsy can also occur due to spontaneous gene mutations, also called de novo mutations. De novo mutations don’t occur in either of your parents. They develop after your parents pass their genetic information to you.

Many types of epilepsy are linked to genetic factors. Sometimes a single gene can lead to epilepsy, but large studies examining the entire human genome suggest that most common epilepsies are associated with multiple genes.

In a 2023 study, scientists reported the results of the largest epilepsy genetic study to date. The researchers compared the DNA of 29,944 people with epilepsy with 52,538 without epilepsy.

They discovered 26 genetic areas in human DNA associated with epilepsy. Sixteen of these locations were newly reported. They also found that a particular type of epilepsy called genetic generalized epilepsy had a strong association with the most common genetic variants.

Epilepsy and family history

Children who have parents with epilepsy are 2–10 times more likely to have epilepsy, too, compared with children without a family history.

In a 2021 study, researchers found evidence that the risk of epilepsy is highest when the affected parent is the mother. Analysis of people born in Denmark between 1981 and 2016 revealed that people with a mother with epilepsy were 1.45 times more likely to develop epilepsy than if their father had epilepsy.

Epilepsy and de novo gene mutations

Many of the most severe types of epilepsy seem to develop from de novo dominant genes. These genes are rarely passed through families since few people with these severe forms of epilepsy have children.

The World Health Organization’s International Classification of Diseases 11th Revision lists the following types of epilepsy as genetic or presumably genetic:

  • pyridoxal 5-phosphate dependent epilepsy
  • benign familial infantile epilepsy
  • Dravet syndrome
  • epilepsy of infancy with migrating focal seizures
  • benign childhood epilepsy with centrotemporal spikes
  • childhood absence epilepsy
  • epilepsy with myoclonic astatic seizures
  • myoclonic absences or absences with myoclonias
  • juvenile myoclonic epilepsy
  • juvenile absence epilepsy
  • benign adult familial myoclonus epilepsy
  • reflex epilepsies
  • progressive myoclonic epilepsy

In a 2023 study, researchers identified more than 900 genes potentially associated with epilepsy. Almost 90% of these genes were associated with severe forms of epilepsy called epileptic encephalopathies and only 5% were associated with common epilepsies.

Some of the genes associated with epilepsy include:

Type of epilepsyGenes
Pyridoxamine 5′-phosphate oxidase deficiency• PNPO
Benign familial neonatal seizure• KCNQ2
Familial infantile myoclonic epilepsy • TBC1D24
Early infantile epileptic encephalopathy• CACNA1A
Dravet syndrome• SCN1A
Generalized epilepsy with febrile seizures plus• GABRD
Myoclonic-atonic epilepsy• SLC6A1
Juvenile absence epilepsy• CLCN2
Juvenile myoclonic epilepsy• CACNB4
Idiopathic generalized epilepsy• CACNB4
• SLC12A5
• SLC2A1

Genetic testing involves looking at your genes to:

  • identify the underlying cause of your epilepsy
  • guide the selection of antiseizure medications
  • predict the future behavior of your epilepsy, with some types stopping before the end of childhood
  • identify if a child is at risk of developing epilepsy

Most of the time, doctors use a blood sample to test your genes, according to the Epilepsy Foundation. Less commonly, they use:

  • saliva samples
  • cheek swabs
  • skin biopsies

Many different risk factors have been identified for epilepsy. Some of these risk factors include:

Here are some frequently asked questions people have about epilepsy and genetics.

Is epilepsy passed from the father or mother?

Epilepsy can be inherited from genes passed to you through your mother or father. Research suggests the risk is higher if your mother has epilepsy. Gene mutations can also arise sporadically without occurring in either parent.

At what age does epilepsy start?

Some types of epilepsy such as childhood absence epilepsy can develop in infancy, while other types such as benign adult familial myoclonus epilepsy can develop in adults.

Is epilepsy hereditary from grandparents?

Some types of epilepsy such as progressive myoclonus epilepsy are associated with recessive genes. These genes might not be expressed in your parents but become active if you receive the gene from both sides of your family.

The genetics of epilepsy is complex. Some forms of epilepsy develop due to changes in one gene while others develop due to changes in multiple genes. Hundreds of genes have been linked to the development of epilepsy.