The Atlas of Monogenic Epilepsies

Abstract

Epilepsy may be the consequence of several causes, including genetic anomalies, structural brain malformations, hypoxic-ischemic encephalopathy, brain tumors, and drugs, all contributing to the imbalance between excitatory and inhibitory neurons and modulatory interneurons, which in turn provoke abnormal, simultaneous electric discharge(s) involving part or all the brain.[1] [2] [3] In the pregenetic, pregenomic era, in most cases, the exact cause of such neuronal/interneuronal disequilibrium remained unknown and the term idiopathic epilepsy was used to define all the epilepsies without cause. At the same time, some specific epileptic syndromes were indicated by the eponym of the first physician who originally described the condition (e.g., West syndrome, Dravet syndrome, Ohtahara syndrome, Lennox–Gastaut syndrome) or by some characteristic clinical features (e.g., nocturnal frontal lobe epilepsy, absence epilepsy, epilepsy and mental retardation limited to females). In many of these occurrences, the distinct epileptic syndrome was defined mainly by its most relevant clinical feature (e.g., seizure semiology), associated comorbidities, and electroencephalographic patterns.[3] [4]