Genetic Testing for Epilepsy

Recorded January 22, 2020

There are many types of genetic tests. Some tests focus on

  • Individual genes
  • Groups of genes
  • Chromosomes
"There is no single test that can diagnose all genetic epilepsies."

Common examples of genetic tests for epilepsy include the following.

Epilepsy Gene Panel

  • This test involves the analysis of the most common genes associated with epilepsy.
  • There are many types of epilepsy gene panels.
  • Some have fewer than 20 genes and others have many hundreds of genes.

Chromosome Microarray

  • This genetic test involves analysis of a person’s chromosomes (structures that contain DNA).
  • Checks to make sure there are no imbalances that could cause epilepsy. Imbalances include extra or missing pieces of chromosomes – or – extra or missing entire chromosomes.

Whole Exome Sequencing

  • This complex genetic test involves analysis of the entire DNA code to look for changes in genes associated with epilepsy.
  • It is similar to the epilepsy gene panel, but looks at a much larger number of genes, including rare and newly discovered genes.

Targeted Testing

  • If there is already a known genetic cause of epilepsy in a person, other family members may have targeted testing to help clarify their risk.

If a person has epilepsy due to a known cause (such as a brain injury), genetic testing is not likely to reveal helpful information. Genetic testing may be considered for anyone with epilepsy when there is not a known cause.

Testing is more likely to identify a genetic diagnosis if the individual has

  • Refractory (difficult to treat) epilepsy
  • Other significant neurodevelopmental or neurological symptoms (such as developmental delay, autism spectrum disorder, or movement disorder)
  • A strong family history of epilepsy
"Genetic testing may be considered for anyone with epilepsy when there is not a known cause."

Genetic testing is not for everyone.

  • Choosing to have a genetic test is a personal decision that should be made with the help of a medical professional.
  • Results of a genetic test may have many implications for an individual and their family members. These include medical, reproductive, psychological, and financial implications.
  • It is important to consider these factors when deciding to get genetic testing.
  • Some people may choose not to pursue testing for these reasons.

A positive result on a genetic test may impact family members. Typically, testing may initially be extended to first-degree relatives (parent or sibling). Depending on their results, more distant family members may benefit from testing as well.

Whether or not testing is recommended for family members depends on many factors, most importantly the specific genetic diagnosis and the inheritance pattern (how conditions are passed on). Individuals and families should seek guidance from a medical geneticist or genetic counselor to find out if testing of family members is important.

  1. Wang D, et al. Glucose Transporter Type 1 Deficiency Syndrome. GeneReviews. March 2018.
  2. Wirrell EC. Treatment of Dravet Syndrome. Can J Neurol Sci, 2016. 43 Suppl 3: p. S13-8.
  3. Saneto RP, et al. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure, 2010. 19(3): p. 140-6.
  4. Miceli F, et al. KCNQ2-Related Disorders. GeneReviews. Sept. 2018.
  5. Berkovic SF, et al. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol, 2004. 55(4): p. 550-7.

Authored By:

Antonina Wojcik MS, CGC

on Thursday, December 31, 2020

Reviewed By:

Annapurna Poduri MD, MPH
Beth Rosen Sheidley MS, CGC
Elaine Kiriakopoulos MD, MSc
Elaine Wirrell MD

on Thursday, April 23, 2020

Resources

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