Altered resting-state functional connectivity in the sleep-wake circuit in juvenile myoclonic epilepsy: A Seed-based...

Juvenile myoclonic epilepsy (JME) is characterized by myoclonic seizures mostly occurring after awakening, and sleep deprivation is a common predisposing factor. This study aims to investigate the resting-state functional connectivity (rs-FC) of key regions in the sleep-wake circuit in patients with JME, focusing on the suprachiasmatic nucleus (SCN), posterior hypothalamus, and the ascending reticular activating system (ARAS).

This study involved 33 patients with JME and 40 age and gender-matched healthy controls (HCs). All participants underwent sleep and cognitive learning-related neuropsychological scales and resting-state functional magnetic resonance imaging (rs-fMRI), and seed-based functional connectivity analysis was performed on regions within the sleep-wake circuit, including the SCN, posterior hypothalamus, and ARAS nuclei.

In patients with JME, significant alterations in rs-FC were observed, including increased connectivity between the left SCN and the left medial superior frontal gyrus (P_FDR-corr = 0.002), and altered connectivity in the laterodorsal tegmental nucleus (LTN), periaqueductal gray (PAG), and parabrachial complex (PBC). LTN seed displayed significant hyperconnectivity with the cluster in the frontal lobe (right superior frontal gyrus, bilateral supplementary motor area, bilateral precentral gyrus, bilateral paracentral lobule), the parietal lobe (bilateral postcentral gyrus, right superior parietal lobule), right superior temporal gyrus, the occipital lobe (bilateral cuneus, bilateral superior occipital gyrus, bilateral calcarine fissure), and midbrain in JMEs (P_FDR-corr< 0.001), and revealed significantly decreased rs-FC with pons (P_FDR-corr< 0.001) compared to HCs. Furthermore, PAG seed showed significant hyperconnectivity with the left red nucleus and the dorsal raphe nucleus (P_FDR-corr< 0.001) compared to HCs. Lastly, PBC seed showed significant hyperconnectivity with pons, and significantly decreased rs-FC with midbrain, cerebellar vermis, and bilateral locus coeruleus (P_FDR-corr< 0.001).

The study reveals significant alterations in the functional connectivity of brain regions involved in the sleep-wake circuit in patients with JME, providing valuable information for understanding myoclonic seizures after awakening and seizures triggered by sleep deprivation.