Aberrant Visual-Related Networks in Familial Cortical Myoclonic Tremor with Epilepsy
Abstract In familial cortical myoclonic tremor with epilepsy, photic stimulation can trigger visual-related symptoms and induce a photoparoxysmal response on electroencephalography. This is known as photosensitivity. To explore the mechanism of prominent visual-related symptoms and photosensitivity in patients with genetically confirmed familial cortical myoclonic tremor with epilepsy type 1, resting-state functional magnetic resonance imaging data and electroencephalography data were collected from 31 patients carrying the heterozygous pathogenic intronic pentanucleotide (TTTCA)n insertion in the sterile alpha motif domain-containing 12 gene and from 52 age- and sex-matched healthy controls. Results: (1) Both regional homogeneity and degree centrality values in the bilateral calcarine sulcus were significantly increased in patients compared with HCs. (2) When the calcarine sulcus area with increased regional homogeneity was taken as a seed, increased functional connectivity values were observed in the right precentral gyrus, while decreased functional connectivity values were observed in the right superior frontal gyrus and right inferior parietal lobule. (3) independent component analysis showed increased connectivity in the left calcarine sulcus inside the medial visual network. (4) Correlation analysis revealed significant positive correlation between regional homogeneity values and frequency of seizure, and photoparoxysmal response grades were positively correlated with the severity of cortical tremor and duration of epilepsy. The findings provide strong evidence for the interpretation of visual-related symptoms and photosensitivity in familial cortical myoclonic tremor with epilepsy and may also relate to other epilepsy syndromes with photosensitivity. We speculate the significant functional change in primary visual cortex probably an imaging biomarker for the disease.