The Genetics of Epilepsy

In some diseases and disorders, genetic knowledge may be beneficial in related issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing. If you or a loved one have recently begun to show symptoms of epileptic seizures unrelated to trauma, it may be genetic.

Genetic Testing in Epilepsy

Genetics and Epilepsy

Several types of epilepsy have a genetic component (such as deletions or mutations) and it can run in families, advances in science and technology help to identify these molecular defects. Genetic testing helps scientists and doctors better understand how various genes may interact to create specific epilepsy syndromes. The genetic information gathered may give individuals with epilepsy and their families more detail about their specific epilepsy syndrome.

How Genetic Testing is Done

to do a genetic test, a blood or saliva sample must be taken from the person with epilepsy. Then, the sample is sent to a laboratory. The genetic test analyzes the person’s DNA for mutations or changes in a subset of genes that have a known association with different types of epilepsy.

Genetic Epilepsy Syndromes

There are over 20 different syndromes with epilepsy as one of the main features that have been mapped to specific genes. Many more single gene disorders that cause brain abnormalities or metabolic disorders have epilepsy as a primary symptom. Scientists have also identified mutations in genes that control sodium, potassium, and calcium channels that can cause epilepsy.

Genetic testing in some epilepsy syndromes has already played a significant role in clinical practice, particularly for people with epileptic encephalopathies that begin in infancy and early childhood. For example:

  • Dravet syndrome – more than 70% of people have mutations of SCN1A.
  • Epilepsy limited to females with mental retardation – involves the PCDH19 gene.

More challenging at this time is the subgroup of genetic generalized epilepsies (GGE) that include childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, photosensitive epilepsy, and generalized tonic-clonic seizures. GGE has a complex genetic inheritance pattern. This subset of epilepsies is challenging to study and, currently, we have little information about the genes that are implicated in GGE.

ARCpoint Labs does not test for genetic diseases, this is merely an educational piece.

To learn more about our DNA testing services, contact ARCpoint Labs of Kansas City today.

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