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
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
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
Epilepsy and de novo gene mutations
Many of the most severe types of epilepsy seem to develop from
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
Some of the genes associated with epilepsy include:
|Type of epilepsy||Genes|
|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|
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:
- severe head injuries
- autism spectrum disorder
- Alzheimer’s disease, in the late stages
- family history of epilepsy or fever-related seizures
- having a condition that causes intellectual or developmental delay
- cerebral palsy
- infectious brain conditions such as meningitis
- brain tumors
- abnormal blood vessels in your brain
- being born small for your age
- having a seizure in the first month of life
- using illegal drugs such as cocaine
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.
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.