What causes epilepsy?

If your child has had 2 or more seizures with no known cause, it could be a genetic disease, even if epilepsy doesn’t run in your family

Epilepsy is a type of brain condition. It’s diagnosed when a child has 2 or more seizures that have no known cause.1 Epilepsy is often treated with anti-epileptic drugs, called AEDs—also known as anti-seizure medications or anticonvulsants. AEDs help to manage seizures, but they may not address the underlying cause.1,2

What do genes have to do with it?

There are many different causes of epilepsy, but over half of epilepsy types are linked to genetics.3

In rare cases, some genetic variations—like the ones that lead to genetic diseases known to cause seizures—are not inherited from our parents but arise spontaneously. This is one of the ways for a child to have epilepsy, even if it doesn’t run in the family. If this is the case with your child, a genetic test could explain why they are having seizures.

Why get an epilepsy gene panel?

In some cases, knowing if your child has a genetic disease can lead to more precise treatment options

An epilepsy gene panel could help determine if your child’s seizures have a genetic cause. It’s a simple test that can be done with just a saliva or blood sample, with results in a few weeks. You may meet with a genetic counselor, who can help you understand the results and discuss options.

In some cases, an epilepsy gene panel can help your child’s doctor provide your child with broader options when it comes to treatment and seizure management, while also helping improve life planning for both your child and your family.

More genes associated with epilepsy are being discovered all the time. Even if your child has had a genetic test in the past that came back negative or inconclusive, ask your child’s doctor about an epilepsy gene panel that looks at the latest genes known to cause epilepsy. Testing may help your child’s doctor provide you with a more precise diagnosis.

The sooner, the better

You are your child’s best advocate. Ask your child’s doctor about a gene panel sooner—it could potentially help your child receive a diagnosis and in some cases lead to more precise care options. A gene panel could also eliminate the need for other tests, which can be repetitive and expensive. In certain instances, findings from a gene panel could suggest the need to change your child’s diet or avoid certain medications.

Support for your family

If a genetic disease is causing your child’s seizures, support may be available

Remember, you are not alone. There are groups that not only understand epilepsy, but can also help guide and support your family as you look for options and answers.

Many other families have had similar experiences to your own. Helpful resources, as well as advocacy and support groups, can be accessed at the following sites:

The Epilepsy Foundation works to improve and save lives through community services, public education, access to care campaign, research initiatives, and funding new therapies.

NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them.

A genetic diagnosis can help direct you to specific support or educational materials that your child and your family may need now, as well as prepare you for what to expect.

Take action

What you need to know before talking to your child’s doctor

Gene panels are becoming a more common tool to find the cause of epilepsy in children. More genes linked to seizures are being discovered, and more targeted treatments are available now than ever before. It is important to note that a gene panel can only diagnose some forms of epilepsy and only a portion of those have targeted treatments available.

Not all doctors use gene panels for every patient they see, so they may not be a part of your child’s routine workup. Your child’s doctor is likely to consider many testing options, such as EEGs, CT scans, or MRIs.

Genetic testing may be one of the most direct and cost-effective ways learn why your child is having seizures. Other options may also be available, such as Telehealth programs. Telehealth programs use technology like video conferencing and wireless communication to help support healthcare, especially for people who live in rural or remote areas.

There are a number of healthcare providers who can order an epilepsy gene panel, such as pediatric neurologists, geneticists, and doctors who specialize in the treatment of epilepsy.

Did you know?

A gene panel may be covered by insurance, and if not, low- or no-cost epilepsy gene testing programs may be available.

Questions to ask your child’s doctor

  • I understand that it’s not always possible to know the cause of epilepsy, but could my child’s epilepsy be genetic?
  • Are any of these symptoms related to my child’s epilepsy, and if so, could a genetic disease be the cause?
    • Change in seizure types
    • Language development delay and/or clumsiness and frequent falls
    • Staring spells (brief losses of awareness characterized by a blank expression, possibly with facial twitching, also known as absence or daydream seizures)
    • Behavior changes such as impulsivity, aggression, and sudden mood swings
    • Sleep disturbances
  • No one in my family has a history of seizures, could the cause be genetic?
  • My child was diagnosed with autism. Could results from an epilepsy gene panel give a different diagnosis?
  • Are there any genetic causes of epilepsy that could affect the scope of my child’s options or treatment plan?
  • Could an epilepsy gene panel tell whether my child’s epilepsy has a genetic cause?
  • Could results from a gene panel lead to other possible treatment options?
  • Could a gene panel tell me if there are any foods or medications that my child should avoid?
  • Are there any support or advocacy groups available for families like mine?
Talk to your child’s doctor and ask about an epilepsy
gene panel as soon as possible

You may find it helpful to take a copy of these questions below to your child's doctor.

This site is brought to you by

BioMarin is a world leader in developing and commercializing innovative biopharmaceuticals for rare diseases driven by genetic causes.
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In partnership with

Genome Medical is a leading telegenomics technology and services company, whose mission is to integrate genomics into everyday health care. Its 50-state network of genetic experts provides consultations by video or phone.
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REFERENCES

1. American Epilepsy Society. Facts and figures. https://www.aesnet.org/clinical_resources/faqs. Accessed October 17, 2018. 2. Epilepsy Foundation. Seizure and Epilepsy Medicines. https://www.epilepsy.com/learn/treating-seizures-and-epilepsy/seizure-and-epilepsy-medicines. Accessed October 17, 2018. 3. Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010;6:445-453.