Epilepsy Genetics Clinic

The Epilepsy Genetics Clinic at St. Jude Children’s Research Hospital treats children with certain rare epilepsies caused by genetic changes. This clinical program is part of the Center for Experimental Neurotherapeutics (CENT) Clinical Program.

Learn about neurological disorders care at St. Jude.

The Epilepsy Genetics Clinic specializes in helping children who start having seizures at an early age. It also works to bring the most promising new treatments from the lab to patients.

We study types of epileptic disorders that are caused by or may be caused by genetic changes. These include:

• Developmental and epileptic encephalopathies (DEEs): early-onset epilepsies that cause severe seizures and are hard to treat. These epilepsies can lead to developmental delays, regression, or both.
• Rare genetic epilepsies: caused by changes in specific genes, such as CHD2, SYNGAP1, SLC6A1, STXBP1, PCDH19, GNAI1, SCN2A, SCN8A, RHOBTB2, KCNQ2, UBA5, KLHL20, ARPC4, and others
• Undiagnosed epilepsies: epilepsies with no clear cause. Health care teams think they may be linked to genetics.

Children who visit the Epilepsy Genetics Clinic can take part in clinical research. This research helps scientists learn more about epilepsy disorders. Clinical trials can also help researchers develop new treatments that improve the quality of life and outcomes for children living with epileptic disorders.

Services we provide

Your child may see experts in:

• Genetics and genetic counseling
• Neurology
• Physical therapy

The care team may also give your child the option to take part in clinical research. This research may include sharing medical information, skin or blood samples, or both to learn how epileptic disorders affect people over time. It could also lead to the development of new, targeted therapies that directly address the genetic cause of epilepsy disorders.

St. Jude works with Le Bonheur Children’s Hospital to provide care for some patients with neurological disorders. Your child may get some of their care at Le Bonheur. 

Your Epilepsy Genetics Clinic team

The Epilepsy Genetics Clinic is led by Heather Mefford, MD, PhD, along with a team of other experts in genetic neurological diseases.

The Epilepsy Genetics Clinic team includes:

• A patient coordinator: helps collect medical records and schedule your first visit
• A geneticist: guides genetic testing and management options
• A genetic counselor: provides support and education about genetics
• A neurologist: reviews your child’s medical history, performs a physical exam, and may recommend more tests
• A physical therapist: checks strength, balance, flexibility, and coordination
• Research nurses: help your child understand and take part in research
• Study coordinators: help manage clinical research activities

Depending on your child’s needs, you may also see a nurse navigator, child life specialist, social worker, psychologist, gait and mobility expert, or other rehabilitation specialists.

What to expect during your visit

In the Epilepsy Genetics Clinic, your child will:

• Meet with experts in rare genetic epilepsies, neurology, genetics, and physical therapy
• Work with a genetic counselor to assess their condition, family history, and genetic testing they have already had done. The counselor will also talk about any other tests the team recommends.
• Complete a neuropsychological assessment if needed
• Take tests to check mobility, balance, and motor skills

Your child may also give blood or skin samples. If your child joins a specific clinical trial, there may be other activities they will do. The care team will explain these activities before your visit.

Your Epilepsy Genetics Clinic team will discuss care options with you in detail. Please ask any questions you have at any time.

Learn more

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