Unveiling developmental and epileptic encephalopathies: Integrating clinical and electrographic features in diagnosis

Abstract BACKGROUND: Developmental and epileptic encephalopathies (DEEs) are conditions in which cognitive functions are influenced by seizures, interictal epileptiform activity, and the neurobiological processes behind epilepsy. DEE can be related to genetic variants. Electroencephalogram (EEG) plays a vital role in defining the epilepsy syndrome, but there are limitations. EEG may be normal initially, but characteristic abnormalities can evolve, aiding in tailoring investigations toward diagnosis. OBJECTIVES: This study aims to clinically and electrographically diagnose various DEEs. MATERIALS AND METHODS: A longitudinal observational study was conducted over an 18-month period. Thirty-one children who presented with developmental delay (cognitive > motor delay) with or without seizures were included. They were evaluated with EEG followed by appropriate genetic testing modalities. RESULTS: The children underwent initial EEG evaluation, followed by genetic testing based on EEG and clinical findings, which helped confirm the diagnosis. CONCLUSION: Understanding specific EEG patterns alongside clinical features plays a crucial role in tailoring investigations for the genetic diagnosis of DEE.