About the Epilepsy Neurogenetics Initiative (ENGIN)

At CHOP's Neuroscience Center, we are dedicated to improving the care of children with epilepsy. With recent and rapid advances in our understanding of the role of genetic variation in epilepsy and the developments of genetic testing technologies, we are increasingly able to identify a genetic cause of a child’s epilepsy and put an end to a family’s search for answers. It turns out that at least half of all childhood epilepsy has a genetic cause. The Epilepsy Neurogenetics Initiative (ENGIN) is one of the largest epilepsy neurogenetics programs in the world. ENGIN integrates genetic testing into the diagnosis and treatment of children with difficult-to-treat or unexplained epilepsies, and provides access to expert care for children with genetic epilepsy syndromes and other genetic neurodevelopmental disorders. Our goal is to learn about each child and their family and identify the role genetics plays in causing or contributing to a child’s epilepsy to inform the development of a precise, individualized approach to prognosis, treatment and holistic management.

Mutations in more than 200 genes have been linked to various forms of childhood epilepsy. About 40% of the genetic epilepsies we have evaluated and diagnosed in the ENGIN Clinic are linked to ion channels in the brain.

When your child is seen in the ENGIN clinic, they will be treated by a core care team that includes an attending pediatric neurologist and genetic counselor who specialize in genetic epilepsies and neurogenetic disorders, as well as physical and occupational therapists. Depending on your child’s personalized treatment plan, they may also see neurosurgeons, research coordinators, cardiologists, gastroenterologists, neuro-ophthalmologists, social workers, psychologists and other specialists, all of whom have experience treating children with genetic epilepsies. This team is supported by a clinical administrative coordinator, program manager, nurse practitioner, and social worker, to assist in maximizing available support services.

What we offer

Our team of neurogenetics experts partners with families, primary care physicians and referring physicians to provide the best care available. We offer:

  • Unparalleled access to genetic testing, including whole exome sequencing, a technology that analyzes the coding regions of all 20,000 genes at once. The ENGIN team has rare expertise in interpreting genetic test results.
  • An extensive team that includes neurogeneticists, genetic counselors, pediatric epilepsy experts, a neurosurgeon and therapists
  • Individualized treatment plans informed by genetic findings
  • Access to the comprehensive care and related specialists necessary to manage the full range of issues associated with epilepsy

Establishing a genetic diagnosis for a child’s epilepsy can:

  • Provide a family answers as to why their child developed epilepsy, the disease prognosis and the risk of recurrence in other family members
  • Inform treatment and management
  • Steer families toward support groups that include other families at CHOP with children carrying the same diagnosis as well as national and international organizations focused on specific genetic diagnoses
  • Enable research to better understand disease mechanisms and develop precision treatments
  • Reduce or eliminate the need for additional invasive diagnostic testing

Translating research to treatment

By combining expert clinical care, genetic testing, innovative genomic research and basic neuroscience, ENGIN’s goal is to translate a genetic diagnosis into the development of new gene-specific therapies to benefit children around the world. Our team is made up of experts who are leaders in the field of epilepsy genetics and are pioneering research into the discovery of new genetic causes of epilepsy, understanding how genetic variants can lead to seizures, and the development of individualized gene-specific treatments.

CHOP recognizes the importance of research in this field and what it can do for children with epilepsy and their families. In an effort to continually elevate care for children with epilepsy and other neurogenetic disorders, CHOP has made a significant investment in our Neurogenetics and Epilepsy programs. ENGIN was designated a Frontier Program by CHOP in 2019. Frontier Programs are unique, cutting-edge programs that will forge important new discoveries, deliver novel therapies, and help even more children thrive.