Epilepsy Neurogenetics Initiative (ENGIN)

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.

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 better identify the genes causing a child’s epilepsy, which can put an end to a family’s search for answers.

The Epilepsy Neurogenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia (CHOP) 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. We combine cutting-edge clinical care and advanced genetic testing with innovative research to identify the genetic variants causing a child’s epilepsy and develop an individualized approach to treatment and management.

Families come to our Epilepsy Neurogenetics Initiative clinic from all over the world due to our unparalleled access to genetic tests, our expertise in the interpretation of genetic testing results, our in-depth knowledge regarding a wide range of genetic causes of epilepsy, and our efforts to quickly turn discoveries into effective treatments. Through ENGIN, your child will have access to a full range of epilepsy therapies, including medication, dietary treatment and epilepsy surgery.

What we offer

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

  • Unparalleled access to genetic testing
  • An extensive team of neurogeneticists, genetic counselors, pediatric epilepsy experts, a neurosurgeon and therapists
  • Individualized treatment plans
  • 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 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

Who we treat

Any child with epilepsy may be eligible for referral to our program. Your path will depend primarily on whether or not the child already has a diagnosis in hand. No matter what, we are here to help and guide you to the right place.

Making a referral to the Epilepsy Neurogenetics Initiative for unexplained epilepsies

Any child with unexplained or difficult-to-treat epilepsy is eligible for referral to CHOP’s ENGIN clinic. Reasons for referral may include:

  • Difficult to control (intractable) seizures
  • Seizures with no explanation found on brain MRI
  • Family history of epilepsy or seizures
  • Developmental delay
  • Autism spectrum disorder
  • Certain brain malformations

Second opinions for established diagnoses of genetic seizure disorders

If your child or patient has an established genetic diagnosis such as a genetic seizure disorder or epilepsy syndrome, and you are seeking a second opinion or more information about what the diagnosis means, we can arrange a comprehensive evaluation and genetic counseling session with an attending neurologist and genetic counselor.

Children often referred to the ENGIN clinic for second opinions or evaluation include those with known or suspected genetic epilepsies or childhood-onset epilepsy of unknown cause.

See a list of conditions and genetic diagnoses we treat.

Your child’s first appointment with the Epilepsy Neurogenetics Initiative

Every child referred to the Epilepsy Neurogenetics Initiative will meet with an attending neurologist and a genetic counselor with specialty training and experience in the diagnosis and management of genetic epilepsies. Our program is unique in that we incorporate genetic testing early in the diagnosis of every patient with unexplained or difficult-to-treat epilepsies. All patients will also meet with a clinical research coordinator and are offered the opportunity to enroll in a suite of innovative research studies.

Specific steps will depend on whether or not your child has already had a genetic evaluation. Learn more about what to expect during your first visit with the ENGIN clinic.

Coordinating your child’s care

Based on the results of your child’s physical evaluation and the genetic information gathered, our clinical and research teams work together with referring physicians and families to provide detailed information and create a personalized care plan for each child.

Depending on your child’s specific genetic diagnosis, we will coordinate appointments and referrals with other medical specialists as needed for the best management of your child’s disease.

Translating research to treatment

Children’s Hospital of Philadelphia 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. Our Epilepsy Neurogenetics Initiative was designated a Frontier Program by Children's Hospital of Philadelphia in 2019. Frontier Programs are unique, cutting-edge programs that will forge important new discoveries, deliver novel therapies, and help even more children thrive.

Through ENGIN, we’re formally integrating genetics into the diagnosis and care of children with epilepsy. ENGIN brings together clinical care and research components that seek to translate research directly into the development of new therapies that will benefit children around the world.

Our research is leading the way towards the discovery of new genetic causes of epilepsy, a better understanding of known genetic epilepsy syndromes, and the development of individualized gene-specific treatments.