Understanding juvenile myoclonic epilepsy: contributions from neuroimaging

Advanced neuroimaging techniques have been utilised with ever increasing frequency over the last 10 years. A range of structural and functional imaging modalities have been employed to study the neurobiological mechanisms and anatomical substrates underlying epileptic syndromes. Advanced neuroimaging studies of juvenile myoclonic epilepsy (JME) have utilised PET, SPECT, MRI, DTI and MRS, with all modalities revealing evidence of predominantly frontal lobe and thalamic changes. Abnormalities correlate with clinical features such as seizure frequency and disease duration in some studies. Findings contribute to the ongoing debate surrounding the classification of epileptic syndromes, suggesting JME is a predominantly frontal thalamocortical network epilepsy, challenging the concept of a generalised epilepsy. Existing studies are limited by sample size and methodological considerations, and future studies need to address these as well as pursue underlying mechanisms for phenotypic variation in this heterogenous disorder. The present review aims to outline the existing literature on advanced neuroimaging in JME and highlight future directions for study.