Ryan's Story: Gene Discoveries in Epilepsy Treatment

A video story about a patient of the Epilepsy Neurogenetics Initiative at Children’s Hospital of Philadelphia (CHOP).

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