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  • Writer's pictureREN

Rare Disease & Rare Epilepsies


Although epilepsy as a diagnosis is not rare, many causes of epilepsy are rare. When the underlying cause of epilepsy impacts fewer than 200,000, it is considered a rare epilepsy. At least 100 genes are known to cause epilepsy, not to mention other structural, metabolic, immune, and infectious causes of rare epilepsies. Moreover, 1,000 genetic disorders have epilepsy as a common symptom. Most if not all of these are also rare.

Rare epilepsies may be medically complex, making diagnosis difficult. In fact, many Rare Epilepsies are frequently missed or misdiagnosed. Because of this issue, it can take a long time to get the correct diagnosis, an experience known as “diagnostic odyssey.” However, with improved genetic testing, EEGs, and newer imaging, many people are able to get diagnosed earlier as infants or young children. Still, despite progress in diagnostics, 50% of all people diagnosed with epilepsy do NOT know the cause, making treatment a challenge.


Understanding the specific cause of your epilepsy can inform decisions about treatment, management, and care. Whether you are newly diagnosed or diagnosed a long time ago, it is critical to advocate to identify the underlying cause where feasible. Beyond treatment, understanding the cause of your epilepsy can help connect you to communities of support of persons similarly diagnosed as well as understand the course of the disease.


If you know the underlying cause of your epilepsy, you can find tailored information, education, support, research opportunities, and community. Meet Rare Epilepsy Network's (REN) 80+ individual rare epilepsy organizations.

If you are living with a rare epilepsy diagnosis and don't see an organization for your disorder listed, please contact

To learn more about rare epilepsies, visit:

Disclaimer: All resources are provided as a courtesy. We are not endorsing any organizations or providing medical advice.


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