Abstract
Developmental and epileptic encephalopathies (DEEs) are a group of rare, severe, early-onset
epilepsies characterized by pharmacoresistance, marked electroencephalographic abnormalities,
and delayed or regressive psychomotor development. DEEs are associated with poor long-term
outcomes and increased mortality; however, early recognition and targeted treatment
can impact neurodevelopmental outcomes and overall quality of life. Treatment with
antiseizure medication is often challenging given drug resistance, chronic polypharmacy,
and medication interactions. With advances in genetic testing and increased understanding
of the neurobiological mechanisms of DEEs, the treatment approach is evolving and
includes repurposed antiseizure medications and targeted therapies, as well as early
surgical intervention in select patients. In addition to high seizure burden and neurodevelopmental
delay, DEEs are associated with comorbidities affecting a range of body systems; these
can include intellectual disability, psychiatric disorders, motor dysfunction, and
respiratory and gastrointestinal problems. Over time, these comorbidities increase
the complexity of management and have important implications on the disease burden
and quality of life for both patients and their caregivers. Multidisciplinary care
in DEEs is paramount. We summarize the current evidence on the management of specific
DEEs, focusing on targeted therapies and optimizing outcomes.
Keywords
developmental and epileptic encephalopathy - intractable epilepsy - management - comorbidities
- therapies
