Key Takeaways
- Many adults with epilepsy were diagnosed before comprehensive genetic testing was available.
- Up to half of unexplained epilepsy cases may have a genetic cause.
- Exome sequencing can identify genetic variants that influence treatment decisions.
- Even years after diagnosis, genetic testing may help guide more personalized care.
Many Adults With Epilepsy Never Received Genetic Testing
Genetic testing is increasingly recommended as part of the clinical evaluation for pediatric epilepsy. However, thousands of adults living with epilepsy were diagnosed long before comprehensive genomic testing became widely available.
Many adults with epilepsy received their diagnosis years ago when testing options were limited to:
- chromosomal microarray
- single-gene testing
- small epilepsy gene panels
These tests often evaluated only a small number of genes, leaving many patients without answers.
Today, clinicians recognize that epilepsy can have a genetic cause in a substantial number of cases.
Studies suggest that up to 50% of unexplained epilepsy cases may have an underlying genetic cause.¹
Genetic testing can help both adults and children with epilepsy uncover the cause of seizures.
Genetic Answers Can Help Inform Treatment
A genetic diagnosis does more than explain the cause of seizures. It can also help guide treatment decisions.
When clinicians understand the underlying genetic cause of epilepsy, they may be able to:
- adjust medications
- avoid drugs that worsen seizures
- identify targeted therapies
- connect patients with clinical trials
In some cases, treatment changes informed by genetic findings have resulted in significant reductions in seizure frequency.
Examples of Genetic Epilepsy Conditions
Certain genes are now well known to play a role in epilepsy.
SCN1A-related epilepsy
Variants in the SCN1A gene are associated with several epilepsy syndromes. When the genetic cause is identified, treatment adjustments can reduce seizure frequency and minimize medication side effects.
CDKL5 deficiency disorder
For individuals with CDKL5 variants, treatment options have expanded in recent years. New therapies developed specifically for this condition have demonstrated the potential to reduce seizures and improve quality of life.
Research continues to identify new genes associated with epilepsy, and emerging gene-targeted therapies may offer additional treatment options in the future.
When Panel Testing Isn’t Enough
Many patients previously received epilepsy panel testing or chromosomal microarray analysis.
However, these tests evaluate only a limited number of genes.
Researchers now estimate that more than 900 genes are associated with epilepsy, and that number continues to grow.
Comprehensive genomic testing such as whole exome sequencing can evaluate thousands of genes simultaneously, increasing the chances of identifying the genetic cause of seizures.
Learn more about how clinicians use
whole exome sequencing to identify genetic causes of neurological disorders.
Genetic Testing May Help Adults With Long-Standing Epilepsy
Even for adults who have lived with epilepsy for many years, genetic testing may still provide valuable insights.
A genetic diagnosis can:
- clarify the underlying cause of seizures
- guide treatment decisions
- identify contraindicated medications
- connect patients with specialized care and clinical trials
In one study, exome sequencing identified a genetic diagnosis in approximately 25% of adults with epilepsy.³
For many patients, these answers can improve medical management and quality of life.
When Should Clinicians Consider Genetic Testing?
Professional organizations increasingly recognize the value of genomic testing for epilepsy.
The National Society of Genetic Counselors recommends exome sequencing as a first-tier test for individuals with unexplained epilepsy, regardless of age or associated conditions.
Clinicians evaluating adults with epilepsy may consider genetic testing when patients:
- have unexplained seizures
- were diagnosed years ago without genetic testing
- have complex neurological symptoms
- may benefit from targeted treatment approaches
Learn more about testing options for
epilepsy genetic testing.
Helping Adult Patients Find Answers
Advances in genomic medicine are transforming how clinicians diagnose and manage epilepsy.
For many adults living with unexplained seizures, genetic testing may finally provide the clarity they have been waiting for.
Understanding the genetic cause of epilepsy can help guide treatment decisions, improve seizure management, and connect patients with emerging therapies.
