Clinicians and researchers from the Division of Neurology at Children’s Hospital of Philadelphia (CHOP) shared their work at the annual American Epilepsy Society (AES) Meeting, held from December 6-8, 2019 in Baltimore. From managing seizures to precision medicine to the growing role of genetics in the diagnosis of particular forms of epilepsy, the CHOP team covered a wide range of topics aimed at families as well as their peers in the clinical and scientific communities.
Dennis Dlugos, MD, presented on precision medicine for genetic epilepsies and how to manage expectations in the era of accelerated discoveries in pediatric epilepsy.
Eric Marsh, MD, PhD, co-chaired a session discussing the current state of gene therapy development with regard to developmental and epileptic encephalopathies and the opportunities and challenges associated with bringing these treatments to children with genetic epilepsies.
In addition, several team members presented posters during the course of the conference. For example:
Benjamin Kennedy, MD, presented the results of a study that performed whole genome sequencing in brain tissue resected from individuals with epilepsy. This study, conducted with senior investigator Ingo Helbig, identified disease-causing variants in a subset of these patients and suggests that genetic testing of surgical tissue may be a valuable addition to routine clinical care of patients who undergo epilepsy surgery.
Shavonne Massey, MD Shavonne Massey, MD, presented findings from the Neonatal Seizure Registry that assessed the seizure characteristics of neonates with significant heart and lung disease. This study demonstrated that neonates with severe heart and lung disease have frequent seizures that may not have clear signs in the baby and are often only detectable with EEG monitoring. This work suggests that affected infants should undergo continuous EEG monitoring to assess for seizures and that physicians may need to evaluate alternative antiseizure treatment options.
The meeting also gathered several patient communities from across the United States, which allowed the CHOP team to connect directly with families to present the latest research regarding genetic forms of epilepsy. Katherine Helbig, MS, CGC, a genetic counselor in the Division of Neurology and Co-Director of ENGIN, participated in the SLC6A1 Connect Symposium, where she presented an overview of clinical and genetic aspects of SLC6A1-related disorders. Katie was recently interviewed by Buzzfeed about SLC6A1, the work being done at ENGIN and the interplay between pediatric epilepsy and genetics.
At the SCN8A Epilepsy Clinician, Researcher, and Family Gathering, Ethan Goldberg, MD, PhD, presented his research into SCN8A-related epilepsies, including clinical, genetic, and physiological aspects. Dr. Goldberg’s research suggests that the underlying differences in sodium channel function caused by specific SCN8A mutations correlate with patients’ responses to particular anti-seizure medications.
The Division of Neurology and ENGIN are already building upon the knowledge presented at last year’s AES meeting and many plan to have updates presented at the next meeting taking place in Seattle at the end of 2020.