***In honor of my cousin and her son, Max, who face epilepsy head on, like true warriors.
Purple Day® is the Global Day for epilepsy awareness.
Epilepsy is a medical condition that affects the brain and causes recurring seizures. When someone experiences a seizure, it's because there is a sudden burst of electrical activity in the brain, and this can cause changes in behavior, movements, feelings, or levels of consciousness.
There are a lot of causes of epilepsy including genetic variants, brain injuries and tumors, infections, prenatal factors, hormonal imbalances, and many others.
Genetic forms of epilepsy can present as isolated (or only) epilepsy or in association with other neurological issues (such as developmental delay, intellectual disabilities, and autism) and birth defects.
No genetic test is able to detect all genetic forms of epilepsy. Even if other causes of epilepsy were ruled out and a person had every genetic test available, there is no guarantee a variant in a gene responsible for epilepsy would be identified. And while genetic testing may be considered for many individuals with epilepsy, it may be especially beneficial for those:
· affected with refractory epilepsy,
· who have significant neurodevelopmental or neurological symptoms, or
· with a strong family history of epilepsy.
While genetic testing is not omnipotent, it does have the potential to offer many benefits:
· insights into long-term outcomes and prognosis,
· information for family members about their own risk of epilepsy and their chances of having a(nother) child with epilepsy, and
· access to certain resources, such as support groups and targeted therapies.
There are four main genetic testing options currently available for epilepsy:
· Targeted gene testing looks for changes in a specific gene known to be associated with epilepsy.
· An epilepsy gene panel analyzes common genes associated with epilepsy, ranging from a few genes to over a hundred.
· Chromosome microarray analysis is used to detect extra or missing (pieces of) chromosomes.
· Whole exome/genome sequencing assesses all of one’s genes or their entire DNA for changes associated with epilepsy.
If you are considering genetic testing, you may receive one of three types of results:
· A positive result indicates that a genetic change has been identified as the cause of epilepsy.
· A negative result means that a genetic cause was not identified in the genetic regions that were assessed, be it a gene, multiple genes, or larger areas. Of note, it does not rule out the possibility of a genetic cause.
· A variant of uncertain significance indicates that, though a genetic variant was identified, current data is not able to offer specific information on the potential impact of this finding. This is a very common finding in genetic testing for neurological conditions in general.
It's important to know that insurance coverage for genetic tests varies from one plan to the next and that though the Genetic Information Protection Act (GINA) safeguards against certain genetic discrimination in health insurance, it does not cover other types of insurance like life or long-term care.
If you or someone you love is considering genetic testing for epilepsy, I encourage you to talk with a genetic counselor who specializes in neurological conditions. After obtaining a comprehensive personal and family history, the genetic counselor will not only discuss the benefits, risks, and limitations that were touched upon in this blog but also what genetic testing options may be best for you, specifically.
To find a neurological genetic counselor near you, click here.
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