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About the Rare Epilepsies

What is a Rare Epilepsy?

Epilepsy is the 4th most common neurological disease and has been diagnosed in 65 million people worldwide. Like cancer, epilepsy is not a single disease. It is comprised of many different causes. Causes of the epilepsies are grouped into six categories:  genetic, structural, metabolic, immune-related, infection, or unknown. Although epilepsy as a diagnosis is not rare, many causes of epilepsy may be rare.  When the underlying cause of epilepsy impacts fewer than 


Thakran, et al., 2020


200,000, it is considered a rare epilepsy. Examples of rare genetic epilepsies include Dravet Syndrome, Dup15q, Angelman, and CDKL5. Examples of structural rare epilepsies include Hypothalamic Hamartomas, Aicrardi, and PVNH. Glut1 is an example of a metabolic epilepsy.  Rasmussen's syndrome is an example of a rare auto-immune epilepsy.  

How is Rare Epilepsy Diagnosed?

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. It is critical to advocate to identify the underlying cause where feasible. Asking if you or your loved one are a good candidate for genetic testing is important. Also, be aware that for children under 8 years old, genetic testing is available for free from Behind the Seizure. Referral to a level 3 or 4 epilepsy specialty center can also ensure the most advanced diagnostics are used for an accurate and timely diagnosis. 


What are the Seizure Types Associated with Rare Epilepsies?

There are many different types of seizures and rare epilepsy patients can have multiple different types. Seizure types may also evolve over time. Seizure types may vary by frequency and severity. For many patients diagnosed with rare epilepsies, the seizures may be refractory meaning they do not respond to anti-seizure medications. It is important to know which ones your loved one is having so that they can be treated effectively.   For more information on Seizure Types and How to Identify Seizures, click here.


What are the Non-Seizure Comorbidities Associated With Rare Epilepsies? 

The definition of a comorbidity is the presence of one or more additional disorders that co-occur with a primary condition. There are multiple comorbid conditions associated with rare epilepsies. Comorbid conditions may include cognitive concerns like memory or learning disabilities, developmental delays, psychiatric concerns (including depression, anxiety, and Autism Spectrum disorders), behavioral concerns, and medical concerns (like language, mobility, sleep, respiratory system disorders, gastrointestinal and digestive disorders, and migraines), and more.  For many patients with a rare epilepsy diagnosis the comorbidities may be as bad or even worse than the seizures. This is why treating the whole person is critical. 

Where should Rare Epilepsies be Treated? 

A timely referral to a Level 3 or 4 specialty center may expedite diagnosis and appropriate care for patients with rare epilepsies especially for those with refractory seizures and complex diagnoses. For information on building your loved one’s health care team, click here.


How are Rare Epilepsies Treated?  

Most epilepsy is treated with anti-seizure medications. Alternative treatments include: diets, surgery, and devices. New precision therapies (where a clinician would use a person’s genetic information to develop a customized treatment plan for the patient) are on the horizon for rare and other epilepsies using gene therapy and other innovative strategies. You can learn more about new treatments by visiting individual REN member websites as well as the Epilepsy Foundation’s disease-specific fact sheets

Resources for Patients, Families,  Caregivers, Researchers, and Clinicians

We have organized resources for different stakeholders including clinicians, researchers and data seekers, rare organizations, and parents and caregivers here

If you or a loved one have a rare epilepsy diagnosis, search through our member database to find organizations specific to your diagnosis where you will find information, education, support, and community. You will also likely discover opportunities to participate in clinical trials and other research which we strongly support! Your individual experience will help scientists better understand this disease and help improve treatments and care as well as unlock the cure! We also encourage you to become Ambassadors and fund and friend raisers for rare epilepsy network members. These non profit organizations rely on the generosity of affected families and others to sustain the important work they are doing to support families and cure conditions. 

We appreciate not every diagnosis has a dedicated patient advocacy group (PAG). Also, sometimes you are looking for incredibly local or specific resources. We encourage you to contact the Epilepsy Foundation's 24/7 hotline staffed by information specialists in English and Spanish as well as the Epilepsy Foundation website for more general information.  


What are the DEEs

Developmental & Epileptic Encephalopathies (DEEs) are the most severe epilepsies that are characterized both by seizures (often drug-resistant), as well as encephalopathy (significant developmental delay or even loss of developmental skills). Most DEEs begin early in life, often starting in infancy. Children with DEEs have very frequent and severe seizures that can be of multiple types and uncontrollable. Symptoms include developmental delays and skill losses in learning, mental health, motor, behavior, gastroenterology, sleep, respiratory, language, and feeding.


What's on the Horizon?

There is medical treatment and support for Rare Epilepsies. Medical advancements such as precision medicine (where a clinician uses a person’s genetic information to develop a customized treatment plan for the patient) are advancing!

The Rare Epilepsy Network connects 125+ Rare Epilepsy Organizations to promote awareness and advocacy, working to find cures and treatments for all Rare Epilepsies.  

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