Genetic testing for epilepsy
• There are no official guidelines for when and who should be tested
- Most often there is complex inheritance for epilepsy and there is no definite genetic test to send
- Many genetic tests are very expensive and may not be covered by insurance
- Patients with epilepsy associated with developmental delays or other features may benefit from other types of genetic test:
* Microscopic examination of the chromosomes
* Metabolic tests- Blood tests to see how some genes are functioning
* MRI and other clinical features might suggest other genetic tests
- For some patients, genetic testing is very important
* To help guide medical therapy (eg, decide what drugs to avoid)
* Determine the long term prognosis
* Family planning
- The benefit of genetic testing needs to be discussed on a case by case basis with the health professional treating the epilepsy
• Although children of parents with epilepsy have a slightly higher risk of epilepsy, the good news is that the vast majority will not. The diagnosis of epilepsy is never a reason not to have children. Family counseling should be considered though for some rare familial causes of epilepsy such as tuberous sclerosis.
- With some exceptions, epilepsy that tends to be inherited usually is associated with normal intellectual ability, remission after childhood, or good response to seizure medications