The epileptic encephalopathy jungle – from Dr West to the concepts of aetiology-related and developmental encephalopathies

Abstract

The understanding and use of correct terminology is crucial in clinical practice enabling appropriate expectations of antiepileptic treatment. Further research is needed to elucidate underlying pathophysiological mechanisms, define clear outcome predictors, and find new treatment targets.

DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

“…Epileptic encephalopathies (EEs) encompass a large, heterogenous group of early-onset neurodevelopmental disorders characterized by intractable seizures and electroencephalogram abnormalities (reviewed in refs. 52,53 ). In both patients harboring the DALRD3 mutation, the onset of seizures occurred early in infancy at 6 to 7 months of age indicative of early-onset epileptic encephalopathy ( Table 1).…”

Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome

“…Early infantile epileptic encephalopathies (EIEE) include a heterogeneous class of genetic neuronal synchronization disorders hallmarked by their postnatal clinical appearance and complex neurodevelopmental phenotypes (Kalser and Cross, 2018). Mutations in over 20 genes have been identified for EIEE (Axeen and Olson, 2018;McTague et al, 2016), but most molecular details of how and when these single gene errors perturb the formation of critical brain circuits are not well understood.…”

Effect of Cannabinoids on Electroencephalography of a Child with Lennox–Gastaut Syndrome

“…There was significant decrease in the epileptiform discharges during sleep and awake state. It has always been thought that in epileptic encephalopathies, the seizures themselves are partly responsible for encephalopathy 4 . Early intervention is believed to improve outcome and in our patient that may have been the case.…”