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Sensorimotor network hypersynchrony as an endophenotype in families with genetic generalized epilepsy: A resting‐state functional magnetic resonance imaging study
Author(s) -
Tangwiriyasakul Chayanin,
Perani Suejen,
Abela Eugenio,
Carmichael David W.,
Richardson Mark P.
Publication year - 2019
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.14663
Subject(s) - endophenotype , functional magnetic resonance imaging , resting state fmri , magnetic resonance imaging , neuroscience , default mode network , epilepsy , psychology , blood oxygen level dependent , electroencephalography , audiology , cognition , medicine , radiology
Summary Recent evidence suggests that three specific brain networks show state‐dependent levels of synchronization before, during, and after episodes of generalized spike‐wave discharges ( GSW ) in patients with genetic generalized epilepsy ( GGE ). Here, we investigate whether synchronization in these networks differs between patients with GGE (n = 13), their unaffected first‐degree relatives (n = 17), and healthy controls (n = 18). All subjects underwent two 10‐minute simultaneous electroencephalographic–functional magnetic resonance imaging ( fMRI ) recordings without GSW . Whole‐brain data were divided into 90 regions, and blood oxygen level–dependent ( BOLD ) phase synchrony in a 0.04–0.07‐Hz band was estimated between all pairs of regions. Three networks were defined: (1) the network with highest synchrony during GSW events, (2) a sensorimotor network, and (3) an occipital network. Average synchrony (mean node degree) was inferred across each network over time. Notably, synchrony was significantly higher in the sensorimotor network in patients and in unaffected relatives, compared to controls. There was a trend toward higher synchrony in the GSW network in patients and in unaffected relatives. There was no difference between groups for the occipital network. Our findings provide evidence that elevated fMRI BOLD synchrony in a sensorimotor network is a state‐independent endophenotype of GGE , present in patients in the absence of GSW , and present in unaffected relatives.