Epilepsy Neurogenetics Initiative: Advancing Care Through Genetic Testing for Epilepsy
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.