Alteration of cerebello-thalamocortical spontaneous low-frequency oscillations in juvenile myoclonic epilepsy

Altered thalamocortical network has been proposed to play a pivotal role in the principal pathophysiology underlying juvenile myoclonic epilepsy (JME). Recently, resting-state fMRI studies have provided converging evidence for thalamocortical dysconnectivity in patients with JME. Herein, we investigated the amplitude and spatial distribution of spontaneous low-frequency oscillations using analysis of fractional amplitude of low-frequency fluctuation (fALFF) in a large group of JME patients in comparison with controls.

Volumetric MRI and resting-state fMRI were acquired in 75 patients with JME and 62 matched controls. After preprocessing of MRI data, fALFF was computed and then Z-transformed for standardization. fALFF was compared between controls and patients, and correlation analysis between regional fALFF and clinical parameters were performed in patients.

Compared with controls, JME patients revealed significant fALFF increases in the bilateral medial thalamus, insular cortex/inferior frontal gyrus, and cerebellum vermis (false discovery rate-corrected P < 0.05). There was no region of fALFF reduction in JME patients relative to controls. No significant correlation was observed between regional fALFF and disease duration or cumulative number of generalized tonic-clonic seizures.

We have shown alterations of low-frequency oscillations in the thalamus, insular cortex/inferior frontal gyrus, and cerebellum in patients with JME, implicating cerebello-thalamocortical network abnormality in the pathophysiology underlying JME. Our results could further support the recent concept that JME is a network epilepsy involving specific cortical and subcortical structures, especially the cerebello-thalamocortical network.