Understanding Developmental and Epileptic Encephalopathies

Abstract

Developmental and epileptic encephalopathy (DEE) refers to a collection of rare and severe epilepsies that feature both seizures and developmental consequences. In this interview with EMJ, Antonietta Coppola, a consultant neurologist at the University of Naples Federico II, Italy, reviewed the methods for diagnosing DEE, which include a clinical history and physical examination, a prolonged electroencephalogram (EEG), genetic testing, neuroimaging, and testing for possible underlying metabolic disorders. She also discussed the importance of early diagnosis for patients and caregivers. Challenges in management for patients, caregivers, and healthcare professionals (HCP) were highlighted, and Coppola discussed how they might vary according to the patient’s age. Coppola concluded with advice for HCPs developing a care plan, and sources of information and support for families.