Investigation of Patients With Eye Closure Sensitive Epilepsy With Magnetic Resonance Spectroscopy.

A proportion of patients diagnosed with genetic generalized epilepsy (GGE) experience eye-closure sensitivity (ECS), the underlying pathogenesis of which is unknown. In this study, we compare magnetic resonance spectroscopy (MRS) findings of healthy volunteers with patients diagnosed with GGE, with and without ECS, to detect possible explanatory differences between groups. A total of 33 patients diagnosed with GGE: 17 with ECS and 16 without, and 12 healthy volunteers are included. MRS measurements of N-acetyl-aspartate (NAA), choline (Cho), and creatine (Cr) were made of bilateral occipital lobes and thalamus, and values of patients with GGE were compared with those of normal controls, and within subgroups with different clinical variables, using appropriate statistical tests. Left occipital NAA and NAA/Cr levels were found to be significantly higher in the ECS group than in the control group. In the ECS epilepsy group, a significant moderate positive correlation was noted between left thalamic Cr and duration of drug therapy ( = .539,  = .047) and left thalamic Cr and age at epilepsy onset ( = .564,  = .036). Additionally, left thalamic NAA and NAA/Cr levels were observed to be lower in GGE patients compared to healthy subjects, although not to a statistically significant degree. The differences in MRS-measurable metabolites in the left occipital lobe in those with ECS epilepsy suggest an association between the ECS mechanism and the left occipital lobe. Our results also support the multifocal thalamocortical pathway disorder in the pathophysiology of GGE based on the observation of cellular dysfunction in the thalamus.