Brain Morphology in Patients with Genetic Generalized Epilepsy: Its Heterogeneity among Subsyndromes

We aimed to evaluate the brain morphology of patients with genetic generalized epilepsy (GGE) compared to healthy subjects. In addition, we investigated whether there are differences in brain morphology among different GGE syndromes.

We enrolled 100 patients with a clinical diagnosis of GGE. The patients were classified into different syndrome groups according to their predominant seizure type, age of seizure onset, and electroencephalography characteristics (12 childhood absence epilepsy [AE], 13 juvenile AE, 56 juvenile myoclonic epilepsy, and 19 epilepsy with generalized tonic-clonic alone). We used surface-based morphometry of brain magnetic resonance imaging to evaluate brain morphology.

We found significantly widespread alterations of brain morphology, including cortical thickness and volumes in several regions in the patients with GGE compared to healthy controls. In addition, we observed significant differences in alterations of cortical thickness and volumes among the different GGE syndromes. However, there were no differences in cortical surface areas between the patients with GGE and healthy controls. There was a significantly negative correlation between the duration of epilepsy and most of the each measures of abnormal brain morphology.

The main finding of this study is that brain morphology in patients with GGE is significantly different from that in healthy controls. In addition, we found that the different GGE syndromes show distinct structural brain morphology, especially cortical thickness, which can help us understand the pathogenesis of GGE syndromes.