Epilepsy Neurogenetics Initiative: Looking Back on a Successful First Year

Published on in CHOP News

Genetic factors play a role in more than 50% of childhood epilepsy. At the Epilepsy Neurogenetics Initiative (ENGIN), our goal is to make an expert neurogenetic evaluation accessible to all children with unexplained epilepsy. We partner with the patient’s primary clinical team to provide specialized clinical care and advanced genetic testing, combined with innovative genomic and basic neuroscience research, to identify the genetic cause of a child’s epilepsy and provide an individualized approach to management. Our team is made up of leaders in the field of epilepsy genetics who are pioneering research into the discovery of new genetic causes of epilepsy, understanding of how genetic variants can lead to seizures, and the development of individualized gene-specific therapies to cure epilepsy.

Families come to the ENGIN clinic from all over the world seeking our team’s in-depth knowledge of a wide range of genetic causes of epilepsy, our expertise in interpreting complex genetic testing results, opportunities for involvement in clinical trials and research, and our efforts to quickly turn discoveries into effective precision treatments. We offer access to the full range of epilepsy therapies, including dietary treatment, epilepsy surgery, cutting-edge research and clinical trials, and ongoing follow-up epilepsy care.

Our ENGIN clinic relies on the expertise of a robust, multidisciplinary team that consists of:

  • Nine attending neurogeneticists
  • Four neurogenetic counselors
  • Two physical therapists
  • Two occupational therapists

One of ENGIN’s major goals is translating genetic diagnoses into treatment breakthroughs via novel insights into disease mechanisms. Our translational genomics program leads pioneering research into new genetic causes of epilepsy and provides a deeper understanding of the clinical and genetic aspects of known genetic epilepsy syndromes. Some genetic causes of childhood epilepsy that have been discovered recently through ENGIN’s translational genomics research include AP2M1, CACNA1E and SCN3A.

One way our team is discovering new causes of childhood epilepsy is through novel computational data analysis strategies that leverage large-scale genomic and clinical datasets to identify new gene-disease associations. These innovative approaches may pave the way for computational methods that help pinpoint genetic mutations in other neurological disorders. To read the full article on this breakthrough, visit chop.edu/news/engintool

All children seen in ENGIN are offered the opportunity to enroll in our Epilepsy Genetics Research, and we recently celebrated the enrollment of our 1,000th family, marking a major research milestone.

Some highlights from ENGIN’s first year include:

  • More than 1,000 outpatient visits in our Epilepsy Neurogenetics Clinic
  • Increased access and reduced appointment wait times
  • Streamlined intake and data tracking process
  • Rapid conversion to telehealth visits during the COVID-19 pandemic
  • Clinical genetic testing in >90% of patients without a known diagnosis
  • Enrollment of approximately 500 families in our genomics research