Genetic testing plays a vital role in epilepsy treatment and management, as up to 70 percent of epilepsy cases are caused by genetic factors. The Johns Hopkins Epilepsy Genetics Clinic uses clinical evaluation and genetic testing to offer valuable insights into which therapies may be able to provide reliable seizure control based on your unique genetic background.

For some patients, epilepsy may be linked to other underlying conditions. We also provide genetic assessments that can offer a deeper understanding of what is driving those conditions and whether other family members are also at risk.

Who Should Contact the Epilepsy Genetics Clinic

A genetic assessment is most beneficial for those already diagnosed with epilepsy and who have at least one of the following:

• A family history of epilepsy
• Ongoing seizures that haven’t responded to two or more medications
• Additional conditions, including global developmental delay; intellectual disability; autism spectrum disorders; cerebral palsy; or abnormal development of the bones, skin, heart, kidneys and other organ systems
• Skill loss or developmental regression

What to Expect

During your appointment, you will have appointments with a genetic counselor and an epilepsy specialist. Together, you and the team of providers will discuss which tests are appropriate and how the results may impact your treatment plan. If needed, our team can help facilitate testing for relatives too.

As there is no single test that can diagnose all types of genetic epilepsy, multiple tests may be needed. These tests are typically done on a blood or saliva sample and may include:

• An epilepsy gene panel to analyze the most common genes known to cause epilepsy
• Targeted gene testing to look at specific genes in cases where there is a suspected or known genetic cause
• A chromosome microarray to check for imbalances such as missing or extra pieces
• Full DNA sequencing to looks at a larger number of genes

Refer a Patient for a Genetic Evaluation

When referring a patient, please provide as much information as possible, including:

• Any prior genetic testing results.
• EEGs
• MRIs
• Developmental assessments
• Relevant clinical notes

When possible, send actual copies of results. Referring providers should fax their patients’ records to 410-630-7870.