Epileptic Encephalopathies: Clinical Aspects, Molecular Features and Pathogenesis, Therapeutic Targets and Translational Opportunities, and Future Research Directions

Abstract

Epileptic encephalopathies encompass a heterogeneous group of epilepsy syndromes that manifest with cognitive, behavioral, and neurologic deficits, seizures that are often intractable and multiform, aggressive electroencephalographic paroxysmal activity, and sometimes early death. As more is learned about the etiologies and manifestations of epileptic encephalopathies, progress has been made toward better treatment options. However, there is still a great need for further randomized controlled trials and research to help create clinically effective therapies. The 2015 Neurobiology of Disease in Children symposium, held in conjunction with the 44th annual meeting of the Child Neurology Society, aimed to (1) describe the clinical concerns involving diagnosis and treatment, (2) review the current status of understanding in the pathogenesis of epileptic encephalopathy, (3) discuss clinical management and therapies for epileptic encephalopathy, and (4) define future directions of research. This article summarizes the presentations and includes an edited transcript of question-and-answer sessions.

Epileptic spasms: A South African overview of aetiologies, interventions, and outcomes

“…Epileptic spasms are often associated with poor outcome, especially if treatment is delayed 13 . The persistence of hypsarrhythmia is associated with ongoing epileptic encephalopathy; therefore resolution of hypsarrhythmia on the EEG is important 14 . Standardized protocols for infants with epileptic spasms promote affected infants receiving first‐line treatment with corticosteroids, with improved remission rates 3 months postdiagnosis 2,15 .…”