Epilepsy NeuroGenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia

The Epilepsy NeuroGenetics Initiative (ENGIN) at Children’s Hospital of Philadelphia (CHOP) is comprised of a team of healthcare professionals who specialize in caring for children with genetic epilepsy and neurodevelopmental disorders. Each person with STXBP1 who comes to see us in ENGIN is scheduled with an expert neurologist, genetic counselor, physical therapist, and occupational therapist. This team works together to create a comprehensive plan of care for every child. ENGIN now follows over 100+ children with STXBP1-related disorder, and we often can provide specialized guidance for our STXBP1 families based on the expertise we have developed through the many incredible patients and families who have travelled to see our team. Participation in ongoing research studies is offered as an option to every STXBP1 family, and these research studies are what help us better understand and define the spectrum of STXBP1-related disorder.

What can our families expect from a visit with us?

Each person with STXBP1 is evaluated by our Synapse team, consisting of a neurologist (Dr. Ingo Helbig), genetic counselor (Sarah McKeown Ruggiero, MS CGC or Katie Rose Sullivan, MS CGC), a physical therapist (Sam Pierce, PT PhD) and occupational therapist (Kristin Cunningham MS OTR/L), and a social worker as needed. An initial visit generally lasts 2-3 hours on one day. During this visit, we evaluate each child and their medical history with our multidisciplinary team. Then, we use this information to answer questions about STXBP1 from families, including information about seizures, development, behavior, gastrointestinal symptoms, sleep, and all other symptoms typically experienced by our patients. In addition, we spend time teaching families how STXBP1 works in the brain, as well as specific information that can be learned from a person’s particular genetic variant in the STXBP1 gene. If needed, patients can be evaluated by our ketogenic diet program and our surgical epilepsy program, and scheduling can be coordinated with a visit with the ENGIN team. 

A service for newly diagnosed families

After receiving a new diagnosis of STXBP1-related disorder, families are encouraged to reach out to our ENGIN team through engin@chop.edu. Our expert genetic counselors can call families to help with supporting you through a new diagnosis and answering your complex questions. Clinics with our Synapse team are held nearly every Friday. To schedule an appointment, please contact us at engin@chop.edu, or contact our ENGIN coordinator, Aiyanna Freeman, at (267) 425-0515. 

What is the research that the ENGIN team is doing for STXBP1?

Our team within ENGIN is consistently working on research to better understand and characterize STXBP1-related disorders. Our research focuses on how seizures can progress over time, developmental outcomes, caregiver and patient experience with STXBP1, and, finally, trying to figure out why people with STXBP1 can have so many different presentations of the disorder. Recently, the families we work with have helped us learn or publish: 

  • A disease concept model of STXBP1. To do this study, we interviewed caregivers of people with STXBP1, and used what we heard in interviews to characterize how living with STXBP1 affects the people who live with the disorder and their family, from symptoms to emotional impacts. 

  • Using information from 534 affected people, we show the full known range of STXBP1 related disorders, and we show some of the first genotype/ phenotype correlations.  

Is ENGIN the same thing as ENDD? 

The Center for Epilepsy and Neurodevelopmental Disorders (ENDD) is a new program within CHOP and The University of Pennsylvania (Penn) that is designed to accelerate the development of treatments for genetic neurodevelopmental disorders, including STXBP1. In addition, some of the goals of ENDD including better understanding how STXBP1-related disorders affect the people who have them, so that we can better assess how treatments work and how people with STXBP1 naturally develop over time with standard treatments. To do this, we are working to build a natural history study, where we evaluate children very systematically as part of their appointments within the ENGIN program. More information will be available for this new effort soon, as we are working hard to put this study and center together. 

Learn about the launch of the ENDD from the February 2023 announcement
Penn Medicine and Children’s Hospital of Philadelphia (CHOP) have established the Center for Epilepsy and Neurodevelopmental Disorders (ENDD) to accelerate collaborative research in genetic therapies for neurodevelopmental disorders. Read more and watch a video interview announcing the patnership.