THE CHILDREN’S HOSPITAL OF PHILADELPHIA
3401 Civic Center Boulevard
Philadelphia, PA 19104
Eric Marsh, MD, PhD
Associate Professor of Neurology
Epilepsy Neurogenetics Initiative (ENGIN)
To make an appointment:
Contact Christina McGill
- Pediatric neurologist/epileptologist
- Adult neurologist/epileptologist
- Genetic counselor
- Sleep specialist
- Metabolic specialist
- Developmental or neuro- psychologist
- Keto clinic
- Speech pathologist/therapist
- Occupational therapist
- Physical therapist
- Social work
The Epilepsy Neurogenetics Initiative (ENGIN) at The Children’s Hospital of Philadelphia integrates genetic testing into the diagnosis and treatment of children with epilepsy, and provides access to expert multidisciplinary care for children with genetic epilepsy syndromes. We combine expert clinical management and advanced genetic testing with innovative research to identify the underlying cause of a child’s epilepsy and develop an individualized approach to treatment and management.
Children with Dravet syndrome and other SCN1A spectrum disorders who are cared for at CHOP will receive a comprehensive neurogenetic evaluation and genetic counseling session with an attending neurologist and genetic counselor who specialize in Dravet syndrome. Through ENGIN, children will be evaluated for: genetic confirmation; epilepsy management and formulation of a Dravet-specific seizure action plan; physical, occupational, and speech therapy evaluation; screening for cardiac issues; ophthalmological issues; gastrointestinal issues; and SUDEP discussion and risk reduction. Patients also have access to a full range of epilepsy therapies provided through CHOP’s Pediatric Epilepsy Program, including dietary treatment, epilepsy surgery, cutting edge research and clinical trials, and ongoing follow up care.
ENGIN team members are leaders in basic, translational, and clinical research investigating mechanisms of and novel therapies for Dravet syndrome. All individuals seen in the ENGIN Clinic are offered the opportunity to participate in our research studies.