Table of ContentsView AllTable of ContentsGenetics and EpilepsyOther CausesRisk Factors
Table of ContentsView All
View All
Table of Contents
Genetics and Epilepsy
Other Causes
Risk Factors
Epilepsy is genetic in about 30% to 40% of cases. If you have a first-degree relative (a parent or sibling) with epilepsy, you have a two to four times greater risk of developing it yourself.Experts believe environmental factors also play a role in who will and will not develop epilepsy.
About half of the time, thecause of epilepsyis unknown. When a cause can’t be found, it is called cryptogenic epilepsy. For the other half of epilepsy cases, the causes may be easier to identify.
Read on to learn more about how genetics can play a role in the development andtreatment of epilepsy.
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Geneticepilepsymeans that a person has one or more genes that increase the likelihood of developing seizures. Not everyone with genetic mutations that predispose them to epilepsy will go on to develop the condition. It’s thought that environmental factors may also contribute.
Idiopathic epilepsies include:
Over 200 genes have been identified as “epilepsy genes.” Many other genes have also been shown to cause genetic disorders that can involve epilepsy orseizures.
Genes can be linked to epilepsy in several ways, including:
Affected genes can have:
In some cases, a genetic cause may be suspected, but the exact cause of epilepsy can’t be pinpointed.
Some gene mutations don’t cause epilepsy to develop but can still affect a person with epilepsy. For example, some people with epilepsy have an abnormally active version of a certain gene, making them moreresistant to anti-seizure drugs.
Symptoms of Epilepsy
Inherited Epilepsy vs. Genetic Pathogenic Variants
If epilepsy results from a known or presumed genetic variant, it is considered to have a genetic cause. However, this does not necessarily mean the personinherited epilepsy.
Changes in genes, called genetic pathogenic variants, can occur spontaneously, meaning a child can have these affected genes even if neither biological parent does.
Just having gene mutations that increase the risk of epilepsy doesn’t necessarily mean you will develop epilepsy. In many cases, other factors, such as environmental conditions, are needed for thegenetic predispositionto lead to the development of epilepsy.
Inheritance can play a role too. The risk of epilepsy is increased two to four times for first-degree relatives of a person with inherited epilepsy.Even with this increased risk, the overall risk of developing epilepsy is still low.
The risk is higher if the biological mother has epilepsy than if the biological father does.(Note that when research or health authorities are cited, the terms for sex or gender from the source are used.)
Having a sibling with epilepsy can also increase the risk, especially an identical twin.
Most children who have a parent with epilepsy don’t develop epilepsy, but there is an increased risk. The level of risk varies depending on factors such as the type of epilepsy, number of family members with epilepsy, and age of onset, among others.
Inherited epilepsy can be complex. For example:
Types of Genetic Disorders
Five types of genetic disorders include:
How Genetic Disorders Are Inherited
Symptoms of Genetic Epilepsy
“Epilepsy” is an umbrella term for a group of disorders, each with its own characteristics. Thesymptoms of genetic epilepsycan vary.
Idiopathic generalized epilepsy involves both sides of the brain and can affect all areas of the body. It usually starts in childhood or adolescence.
Symptoms of generalized seizures include:
Some people with epilepsy experience partial seizures (also calledfocal seizures). Partial seizures start in a specific area of the brain and can affect just one part or side of the body.
Symptoms of partial seizures include:
Who Should Get a Genetic Assessment?Once diagnosed with epilepsy, agenetic assessmentmight be helpful for people with at least one of the following:Ongoing seizures that have not responded to at least two medicationsA family history of epilepsyDevelopmental regression or skill lossConditions in addition to epilepsy, such as global developmental delay, autism spectrum disorder, intellectual disability, cerebral palsy, and atypical development of organ systems (such as bones, heart, skin, kidneys, or other areas)
Who Should Get a Genetic Assessment?
Once diagnosed with epilepsy, agenetic assessmentmight be helpful for people with at least one of the following:Ongoing seizures that have not responded to at least two medicationsA family history of epilepsyDevelopmental regression or skill lossConditions in addition to epilepsy, such as global developmental delay, autism spectrum disorder, intellectual disability, cerebral palsy, and atypical development of organ systems (such as bones, heart, skin, kidneys, or other areas)
Once diagnosed with epilepsy, agenetic assessmentmight be helpful for people with at least one of the following:
Treatment
Genetic epilepsy is usually treated withanti-seizure medication.
If medication isn’t effective or isn’t a viable option, other treatments may be tried, such as:
Therapies targeting specific rare genes may provide beneficial treatments in the future but are still in the research phase.
Other Causes of Epilepsy
Head Trauma
Head trauma that causes brain injury, such as a car accident, can lead to epilepsy. Seizures may not show up immediately after thetraumatic head injurybut appear later on.
Clinically significant elevated risk comes from moderate and severe traumatic brain injury (TBI), where there is at least 30 minutes of unconsciousness or more than 24 hours of disorientation, usually paired with hemorrhage or other traumatic findings on a brain scan.
Infections
Brain Abnormalities
Brain malformations, including vascular malformations, may also result in epilepsy.
Seizures: Types in Children and Adults
Prenatal Injury
Brain injuryin the womb leading to epilepsy can result from several factors, including:
Developmental Disorders
Some developmental conditions, such asautism spectrum disorderorneurofibromatosis, can coexist with epilepsy.
Cryptogenic Epilepsy
About half of all cases of epilepsy are cryptogenic, which means the cause isn’t known.
Can a Genetic Test Diagnose Epilepsy?A genetic assessment may be suggested after an epilepsy diagnosis is made to look for a genetic cause. These assessments are not done routinely for people with epilepsy, but rather a referral is made if a person’s epilepsy healthcare provider or specialist feels it is warranted.
Can a Genetic Test Diagnose Epilepsy?
A genetic assessment may be suggested after an epilepsy diagnosis is made to look for a genetic cause. These assessments are not done routinely for people with epilepsy, but rather a referral is made if a person’s epilepsy healthcare provider or specialist feels it is warranted.
Risk Factors for Epilepsy
While it’s often not known why a person develops epilepsy, some factors may increase the risk, including:
Long-Term Epilepsy Prognosis
Summary
Epilepsy can have a genetic component, which may or may notbe inherited. Mutations in genes that can lead to epilepsy may be passed down from a biological parent or occur spontaneously.
Being genetically predisposed to epilepsy (having one or more affected genes) doesn’t necessarily mean you will develop epilepsy. Often epilepsy develops through an interaction between genetic and environmental factors.
Epilepsy is usually treated with medication, butother treatmentssuch as surgery, vagus nerve stimulation, or diet therapy, may be suggested.
If you have or suspect you or your child has epilepsy, talk to your healthcare provider. It’s important to get a proper diagnosis and start anynecessary treatmentas early as possible.
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Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
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