Genetic Causes of Epilepsy
What Is Genetic Epilepsy?
Heredity (genetics or the physical traits we get from our parents) plays an important role in many cases of epilepsy. Advances in science and medicine over the last decade have led to a better understanding of the ways genetic factors contribute to epilepsy.
Epilepsy is said to have a genetic cause if seizures are the result of a known or presumed underlying genetic change, referred to as a DNA variant. DNA variants impact the structure, function, or amount of a protein coded for by a gene. If there is a DNA variant in a gene that codes for a protein expressed in the brain, the variant may lead to an increased likelihood of seizures. A DNA variant may be inherited from a parent, leading to genetic epilepsy, and therefore may be present in multiple family members. However, some genetic epilepsies are not inherited. DNA variants that cause epilepsy may occur spontaneously in a child without being present in either parent or other family members. Sometimes, epilepsy may be due in part to genetic factors, but additional environmental factors may play a role as well.
"Not all epilepsies that are due to genetic causes are inherited. "
What are the symptoms of genetic epilepsy?
Genetic epilepsies can present with a broad range of seizure types. and symptoms. The age of onset ranges from early infancy to adulthood. For some people, seizures may be the only symptom, while for others, seizures are part of a larger collection of symptoms, leading to the diagnosis of an epilepsy syndrome. As of this writing, there are almost 1,000 different genes that have been established to play a role in epilepsy. Therefore, the symptoms of genetic epilepsies are highly variable, depending on which gene is involved. It is often not possible to pinpoint the exact gene involved based on the patient’s symptoms alone. Genetic testing may make it possible to determine the exact gene involved, but it is important to recognize that the genetics of epilepsy is an emerging field. For some individuals, it is not yet possible to determine whether their seizures are due to genetic factors.
How do you get a genetic epilepsy?
A genetic epilepsy may happen when an individual inherits a gene variant (or multiple variants) that result in a higher likelihood of seizures. Inherited genetic factors are more likely if there is a strong history of epilepsy in multiple family members.
However, genetic causes are also common in children who develop treatment-resistant epilepsy very early in life, and/or who have other neurodevelopmental symptoms (such as developmental delay) or congenital birth defects. In these cases, the DNA variant often arises spontaneously in the egg or sperm that led to conception of the child, and a family history of epilepsy is often absent.
How do you treat it?
Most often, treatment for a genetic epilepsy is with anti-seizure medicine, which is chosen based on the seizure type or syndrome. There are several genetic epilepsies for which treatment recommendations exist based on the specific gene or type of DNA variant involved, but as of this writing this is the exception rather than the rule.
Some genetic changes result in metabolic abnormalities, so a specific supplement or special diet can be helpful.
As we understand more about the genetic changes in some of the rare epilepsies due to DNA variant in a single gene, we will begin to see more treatments that can target the specific gene variant. These treatments may have the potential to reduce other challenges often seen with these epilepsies, such as learning problems and intellectual disability, and to improve seizures. However, most therapies targeting specific rare gene variants are in the research phase and not yet clinically available.
Types of Genetic Epilepsy
There are hundreds of rare and/or inherited genetic epilepsies and as gene discovery continues the list continues to grow. Many of the genetic epilepsies have well-established parent advocacy groups that provide information and support to patients and families. We encourage you to contact the diagnosis or gene specific advocacy group that is relevant to you/your family for the most up-to-date information.
Below is a list of some genetic epilepsies and organizations that are known:
- Angelman syndrome- Angelman Syndrome Foundation
- CDKL5- International Foundation for CDKL5 Research
- PCDH19- PCDH19 Alliance
- Ring chromosome 20- Ring 20 Research & Support
- SCN8A related- SCN8A and the Cute Syndrome Foundation
- SLC2A1 (Glut1 Deficiency Syndrome)- GLUT1 Deficiency Foundation
- Rett-MECP2- International Rett Syndrome Foundation
- FOXG1- FOXG1 Research Foundation and International FOXG1 Foundation
- Dup 15q- Dup 15q Alliance
- SYNGAP1-related epilepsy- SYNGAP Research Fund and SYNGAP1 Foundation
- KCNQ2- KCNQ2 Cure Alliance and the Jack Pribaz Foundation
- STXBP1- STXBP1 Disorders
- SCN1A- Dravet Syndrome Foundation
- SCN2A- SCN2A Foundation
- CHD2- Coalition to Cure CHD2
- GRIN2A- CureGRIN Foundation and ESES Foundation
- CACNA1A- CACNA1A Foundation
- SLC6A1- SLC6A1 Connect
Resources
Epilepsy Centers
Epilepsy centers provide you with a team of specialists to help you diagnose your epilepsy and explore treatment options.
Epilepsy Medication
Find in-depth information on anti-seizure medications so you know what to ask your doctor.
Epilepsy and Seizures Helpline
Call our Epilepsy and Seizures Helpline and talk with an epilepsy information specialist or submit a question online.
Tools & Resources
Get information, tips, and more to help you manage your epilepsy.
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