Epilepsy Neurogenetics Initiative: Advancing Care Through Genetic Testing for Epilepsy

In this video:
1:15 What is epilepsy?
1:50 What is the Epilepsy Neurogenetics Initiative (ENGIN)?
2:20 Benefits of genetic testing
3:45 Treatment options available at CHOP
4:20 Advantages of enrolling in studies
4:33 Importance of early diagnosis and treatment
5:20 ENGIN’s interdisciplinary team
5:50 Continuous EEG monitoring unit
7:00 Supporting families throughout their care journey
7:30 ENGIN’s ongoing research
8:00 Genetic testing: Lifesaving for Ryan

In this video, Jennifer and Derek discuss their son Ryan’s experience with seizures and the diagnostic odyssey that led them to the Epilepsy Neurogenetics Initiative at Children’s Hospital of Philadelphia (CHOP) for help.

Epilepsy is a common brain disease defined by the presence of seizures. For many children, the cause of epilepsy is genetic. Until recently, little has been known about the genes that cause the condition, so treatment has been imprecise and not targeted toward the underlying cause. Many families spend years searching for answers to alleviate their child’s suffering.

At Children’s Hospital of Philadelphia, we are dedicated to improving care for children with epilepsy. Thanks to recent rapid advances in our understanding of the role genetic variants play in epilepsy and the development of genetic testing technologies, we can now identify the genes causing a child’s epilepsy, which can put an end to a family’s search for answers.

Establishing a genetic diagnosis can:
• Provide a family with answers as to why their child developed epilepsy, the disease prognosis and risk of recurrence in other family members
• Inform treatment and management
• Allow the family to connect with other families of children with the same diagnosis
• Enable research to better understand disease mechanisms and develop precision treatments
• Reduce or eliminate the need for additional invasive diagnostic testing

CHOP’s Epilepsy Neurogenetics Initiative (ENGIN) is a unique service that exists within one of the largest neurogenetics programs in the world. ENGIN integrates genetic testing into the diagnosis and management of each child with epilepsy.

In this video, CHOP epilepsy experts Ethan Goldberg, MD, Ingo Helbig, MD, and Shavonne Massey, MD, explain the importance of genetic testing and what sets ENGIN apart. Through interviews with Jennifer, Derek and Ryan, as well as anecdotes from a handful of other families, the video shows the wide range of genetic diagnoses that exist for epilepsy, the different types of care journeys families have experienced, and how ENGIN’s team can help.

Families come to ENGIN from all over the country and the world due to our unparalleled access to genetic tests and our efforts to translate innovative discoveries into effective, precision treatments. Any child with epilepsy may be eligible for referral to our program.

Based on the results of our comprehensive evaluation, our clinical and research teams — which includes neurogeneticists, genetic counselors, pediatric epilepsy experts, neurosurgeons and therapists — work with referring physicians and families to create an individualized treatment plan. We offer access to the comprehensive care necessary to manage the full range of issues associated with epilepsy, from medication and dietary treatment to epilepsy surgery. All patients are offered the opportunity to enroll in our research studies, which help us learn more about the child’s condition and refine their treatment and will help us develop precision treatments that benefit children around the world.