Is epilepsy genetic?
Epilepsy has many causes, including genetic factors.
Epilepsy is when a person experiences recurring seizures that aren’t due to an immediate cause. There are many types of epilepsy.
Epilepsy is also the fourth most common brain disorder. In the United States, 1 in 26 people will develop epilepsy, and it affects people of all sexes, races and ages.
Any factor that causes changes in how neurons fire in the brain can lead to epilepsy. When a neuron “fires,” it creates and sends electric signals to the brain from another part of the body. These signals tell the brain it’s time to act or react to something.
The cause of epilepsy is unknown for roughly half of the people with the condition.
What is a seizure?
A seizure is an event in the brain when neurons start firing faster than usual and at the same time. The brain does not know what to do with so many signals and will become overwhelmed.
Seizures typically end within a few seconds to a few minutes after they start. They can affect the way a person moves, acts or looks. There are different types of seizures.
If someone has one seizure, it does not necessarily mean they have epilepsy.
How can a person tell if they’re at risk for epilepsy?
Some causes of epilepsy are genetic, while others aren’t.
That means that some people may have epilepsy due to genes they inherited, but other people may have it for different reasons.
Epilepsy causes
There’s still a lot researchers don’t know about epilepsy and how it starts, and research in the field is ongoing. Many factors can play a role in epilepsy.
Genetics
Epilepsy can run in families. It can also occur due to a genetic mutation.
Many different genetic syndromes cause epilepsy.
For example, people with Dravet syndrome often start having seizures in infancy, and most people with the syndrome have issues with the way ion channels work in their brains. Ion channels are important cell membrane structures involved in controlling electrical signals in the brain.
Hundreds of genes are known to play a role in epilepsy, with new types of genes still being discovered.
Structural causes of epilepsy
Factors that affect the structure or anatomy of the brain can contribute to the development of epilepsy.
For example, trauma to the brain, like traumatic brain injury (TBI), can cause bruising or bleeding in or around the brain, leading to disrupted brain functioning and anatomy. Strokes affect the structure of the brain and can also cause epilepsy.
Likewise, brain tumors can compress areas of the brain, leading to epilepsy.
Autoimmune epilepsy
This form of epilepsy often has a sudden, severe onset. It happens when the immune system attacks the brain, causing inflammation and potentially damaging brain cells.
People with autoimmune conditions are at higher risk for this type of epilepsy.
Infectious diseases
Some infections can disrupt brain activity and lead to epilepsy. These include viral encephalitis, meningitis and infections related to HIV.
Genetic testing for epilepsy
Genetic testing can help determine the cause of epilepsy or the risk of the condition in a person and help their care team diagnose and decide the best way to manage their health.
Testing can also be important when physicians are deciding upon antiseizure medications for someone, since the effectiveness of these medications can depend on the genes involved. There is no single genetic test that covers all forms of genetic epilepsy, so a physician or neurologist may recommend getting several. Whole-genome sequencing is the most comprehensive.
If there’s a known family history of genetic predisposition to epilepsy, the person’s primary care physician may refer them for genetic testing. A neurologist or geneticist will typically recommend the type of genetic testing.
Epilepsy seizure types
Seizures can present with a range of symptoms and varying locations of seizure activity in the brain. There are two overall types of seizures: focal and generalized.
Focal seizures
These arise from a specific part of the brain. About 60% of people with epilepsy have focal seizures. During this type of seizure, the person remains conscious, although their level of consciousness may fluctuate.
Generalized seizures
These involve both sides of the brain and often result in loss of consciousness and significant muscle contractions. During this type of seizure, a person may be at a higher risk of falling.
There are several types of generalized seizures:
- Absence seizures: The person seems to be “absent” or staring into space
- Tonic seizures: Body muscles stiffen
- Clonic seizures: Repetitive jerky muscle movements on both sides
- Myoclonic seizures: Jerks or twitches in the upper body, arms or legs
- Atonic seizures: The head or body drops involuntarily due to a loss of muscle tone
- Tonic-clonic seizures: A cluster of symptoms, such as repeated arm and leg jerking movements, loss of consciousness and muscle stiffening
- Secondary generalized seizures: A focal seizure localized to one part of the brain that turns into a generalized seizure on both sides of the brain
Epilepsy treatment
Treatments for different kinds of epilepsy vary by cause.
A physician may recommend the following treatments for people with different types of epilepsy:
- Antiseizure medication: People with genetic epilepsy may get a prescription for antiseizure medication.
- Gene-specific treatments: A few types of inherited epilepsy have treatments that are specific to their DNA variant. Many of these treatments are still in the research phase of development.
- Special diets: A ketogenic diet — high in fat and low in carbohydrates — can help some people with epilepsy.
- Surgery: Removing an affected brain area via surgery is sometimes an option if seizures are concentrated there and the area doesn’t control critical functions like language or hearing.
- Medical implants: Vagus nerve stimulation is a type of therapy for epilepsy in which a small, implanted device sends electrical signals to the vagus nerve.
Takeaway
Epilepsy is a complex condition that can vary in presentation from person to person. It can also have many different causes.
Some cases of epilepsy are genetic, either coming from inherited genes or from a new gene mutation in the person who has it.
Other types of epilepsy aren’t genetic but are due to other factors, like infection or structural changes in the brain.
Tests are available to detect gene variants linked to epilepsy. The best way for a person to get tested is to consult a physician who can refer them to a specialist, such as a neurologist.
The neurologists at Crystal Run Healthcare are expertly trained to investigate, diagnose and treat neurological disorders, which include diseases of the brain, spinal cord, nerves and muscles. Our experienced neurologists treat a full range of neurological disorders, including headaches, back pain, neuropathy (nerve damage that can cause pain, numbness, or burning), carpal tunnel syndrome, stroke, seizures, multiple sclerosis, Parkinson’s disease, Alzheimer’s disease, and a variety of other neurological disorders. We can diagnose a range of neurologic conditions using state-of-the-art diagnostic equipment and technology to complete testing like MRI, CT and PET, lumbar punctures (spinal taps) and more.
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