Genetic and Molecular Insights in Adult DEE

Developmental and epileptic encephalopathies (DEEs) are a group of rare epilepsies characterized by seizures and neurodevelopmental regression or delay, often presenting in infancy and frequently resistant to conventional antiseizure medications (ASMs). Even when seizure control improves, neurodevelopmental impairments may persist or progress, necessitating long-term multidisciplinary care and active involvement from families in care coordination. Transition from pediatric to adult care may require individualized planning that addresses both seizure management and broader medical, cognitive, educational, and psychosocial needs of patients with DEEs.¹

In this NeurologyLive® Special Report video program, Joseph Sullivan, MD, the director of the Pediatric Epilepsy Center of Excellence at the University of California San Francisco, discussed key considerations in the transition of care from pediatric to adult epilepsy management. He highlighted strategies to support patients during this process, including effective communication between care teams. Sullivan also addressed the role of genetic testing and the importance of reassessing treatment plans over time. He discussed approaches to optimizing ASMs and the potential use of surgical or neuromodulation interventions. Additionally, he emphasized the importance of reviewing diagnoses and treatments over time to ensure care stays aligned with evolving clinical knowledge.

In this second episode, Sullivan highlighted the expanding landscape of targeted therapies for genetic epilepsies and the critical role of genetic testing in informing treatment decisions. He emphasized documenting prior testing, such as whole exome sequencing, and noting negative results to guide future evaluations. Additionally, Sullivan discussed including information on emerging therapies in clinical notes, even when patients are not immediately transitioning, to help adult providers make informed decisions and consider new treatment options as they become available.

REFERENCE
1. Nabbout R. Transition of care in developmental & epileptic encephalopathies (DEE). J Neurol Sci. 2023;455(Suppl):120907. doi:10.1016/j.jns.2023.120907.