Z. Rener-Primec
Klinični oddelek za otroško, mladostniško in razvojno nevrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

B. Gnidovec Stražišar
Klinični oddelek za otroško, mladostniško in razvojno nevrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Epileptic encephalopathy is a term that until recently has been used in conditions in which epileptic activity is not only the cause of seizures, but also simultaneously causes cognitive, neurological and behavioural disorders, and developmental delay or even regression. The aetiological diagnosis in many patients remained unknown, despite all available diagnostics. The pathophysiological mechanisms involved in epileptic encephalopathies as a cause of cognitive deterioration were considered to be either frequent seizures or continuous epileptiform activity in the EEG, or both.During the last decade, many new genes have been discovered as the cause of previously aetiologically unknown epileptic encephalopathies; therefore these conditions may now be classied as genetic encephalopathies with epilepsy. With new knowledge of the pathophysiological mechanisms, this group of epileptic disorders can now be classied into genetic and structural-metabolic groups, where the reasons for the encephalopathic phenotype are due to the aetiology itself, and to the other group, where epileptiform activity per se remains the main cause for developmental delay or regression.Development of new genetic technology, especially the second generation sequencing technique, enables a genetic diagnosis to be made in many patients with early, previously undiagnosed epileptic encephalopathies.International collaboration between clinicians and researchers has led to new discoveries in very rare phenotypes with the goal of better delineation of specific subgroups of patients, optimal choice of treatment and better management of these severe pharmacoresistant epilepsies with a poor prognosis.

Key words: epileptic encephalopathy, infant, early development, genetic diagnosis, epileptiform activity, prognosis.