Genetic Testing for Pediatric Epilepsy: A Path to Personalized Care

Jamie Thomsen
9 hours ago
2 min read

One of the most frightening experiences for any parent is witnessing their child unexpectedly suffer a seizure. In the United States, children under 18 who have had an unprovoked seizure may be eligible for genetic testing, providing crucial insights into hereditary conditions. Programs like the Invitae Unlock Behind the Seizure Program aim to make genetic information more accessible, helping families and healthcare providers better understand and manage epilepsy.

What is the Invitae Epilepsy Panel?

The Invitae Epilepsy Panel is designed to analyze genes associated with both syndromic and non-syndromic epilepsy. According to Invitae, this panel helps identify genetic causes of epilepsy, aiding in diagnosis, prognosis, early symptom detection, and genetic counseling. Additionally, results from this test can inform treatment decisions and facilitate participation in clinical trials.

The test can be conducted using a blood sample, but alternative collection methods, such as saliva, buccal swabs, and gDNA, are also accepted. The primary panel tests 302 genes, with the option to include an additional 18 genes with preliminary evidence for epilepsy. Results are typically available within 10-21 days, with an average turnaround of 14 days.

What Genes Does the Panel Test For?

The Invitae Epilepsy Panel screens for numerous genetic abnormalities linked to epilepsy. Some key conditions and genes include:

Angelman Syndrome: Causes severe developmental delays, movement issues, frequent smiling and laughter, excitability, and speech impairments.
CDKL5: Associated with developmental and epileptic encephalopathy, West syndrome, and Rett-like syndromes.
MECP2: Linked to Rett syndrome, which includes epilepsy in 80% of cases, with intractable seizures in 30%.
SCN1A: Related to Dravet syndrome, febrile seizures, and intractable childhood epilepsy.
TCF4: Causes Pitt-Hopkins syndrome, which leads to developmental delays and intellectual impairment.
ZEB2: Associated with Mowat-Wilson syndrome, characterized by epilepsy, intellectual disabilities, and distinct facial features.
Tay-Sachs Disease: A rare neurological disorder that leads to progressive brain and nervous system degeneration.
TSC1 / TSC2: Associated with Tuberous Sclerosis, which includes a range of seizure types, particularly infantile spasms appearing between 4-8 months of age.

The Benefits of Genetic Testing

According to an Invitae press release, the Unlock Behind the Seizure Program seeks to provide accessible and affordable genetic testing for pediatric epilepsy patients. This initiative aims to shorten the often prolonged diagnostic process, enabling a more personalized approach to treatment.

With genetic test results, healthcare providers can gain valuable insights into the underlying genetic causes of epilepsy. This knowledge helps inform tailored treatment strategies, ensuring that children receive the most effective therapies for their specific condition.

Looking Ahead

Advancements in genetic testing hold great promise for improving the diagnosis and treatment of pediatric epilepsy. By identifying genetic markers earlier, clinicians can expedite treatment decisions and improve outcomes for young patients. Additionally, each new test result contributes to Invitae’s growing rare disease database, which can help refine future diagnoses and treatment strategies for epilepsy and other neurological disorders.

As awareness and accessibility to genetic testing grow, families and healthcare providers can work together to ensure that children with epilepsy receive the most precise and effective care possible.