Genetic Causes of Epilepsy
What Is Genetic Epilepsy?
Epilepsy is said to have a genetic cause if seizures are the result of a known or presumed genetic defect or problem associated with epilepsy. A genetic epilepsy might not be inherited. Some genetic pathogenic variants (or changes in genes) can occur spontaneously in a child without being present in either parent. Furthermore, some epilepsies with a genetic cause may also have additional environmental causes as well.
What are the symptoms of genetic epilepsy?
Genetic epilepsies can present with a broad range of seizure types. Genetic factors are more likely if there is a strong history of epilepsy in other family members.
However, genetic causes are also common in children who develop epilepsy very early in life, and who have a normal MRI and other blood tests. In these cases, the genetic change usually happens for the first time the child, and a family history of epilepsy is often absent.
How do you get a genetic epilepsy?
A genetic epilepsy occurs when an individual inherits a gene, or a number of genes that result in a higher likelihood of seizures. In many cases of idiopathic generalized epilepsy (such as childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy or epilepsy with generalized tonic-clonc seizures alone), epilepsy is the result of inheriting a number of abnormal genes, each of which contribute a relatively small amount to the risk of seizures. If one inherits a number of these genes, epilepsy is more likely.
How do you treat it?
Most often, treatment for genetic epilepsy is with anti-seizure medicine, that is chosen based on the seizure type or syndrome.
Some genetic changes result in metabolic abnormalities and a specific supplement or special diet can be helpful.
As we understand more about the genetic changes in some of the rare epilepsies that are due to an abnormality in a single gene, we will begin to see treatments that can target the specific gene abnormality. Such therapies may have the potential to reduce other challenges often seen with these epilepsies, such as learning problems and intellectual disability, as well as improve seizures. However, therapies targeting specific rare genes are in the research phase, and not yet available for these rare epilepsies.
Types of Genetic Epilepsy
- Specific Genetic Epilepsies
- Angelman syndrome
- Ring chromosome 20
- SCN8A related
- SLC2A1 (Glut1 Deficiency Syndrome)
- TBCK-related ID
- Dup 15q
- SYNGAP1-related epilepsy
- CLN2 and other CLN genes
- Ring 14
- Phelan McDermid
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