Sensorimotor network hypersynchrony as an endophenotype in families with genetic generalized epilepsy: A resting‐state functional magnetic resonance imaging study

Tangwiriyasakul, Chayanin; Perani, Suejen; Abela, Eugenio; Carmichael, David W.; Richardson, Mark P.

doi:10.1111/epi.14663

Cited by 17 publications

(13 citation statements)

References 22 publications

(42 reference statements)

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“…Hyperactivations in motor systems have been suggested as endophenotypes of JME during cognitive fMRI, 13 , 14 but also for a mixed GGE cohort during resting-state. 30 We complement these findings by studying much faster neuronal oscillations using MEG and without vascular confounds. Our results point to more globally increased network levels in patients with GGE and siblings, irrespective of a task involved.…”

Section: Discussionmentioning

confidence: 81%

Heritability of Magnetoencephalography Phenotypes Among Patients With Genetic Generalized Epilepsy and Their Siblings

et al. 2021

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ObjectiveTo assess whether neuronal signals in patients with genetic generalized epilepsy (GGE) are heritable, we examined magnetoencephalography (MEG) resting-state recordings in patients and their healthy siblings.MethodsIn a prospective, cross-sectional design, we investigated source-reconstructed power and functional connectivity in patients, siblings and controls. We analyzed 5 minutes of cleaned and awake data without epileptiform discharges in six frequency bands (1-40 Hz). We further calculated intraclass correlations (ICC) to estimate heritability for the imaging patterns within families.ResultsCompared with controls (n = 45), patients with GGE (n = 25) showed widespread increased functional connectivity (theta to gamma frequency bands) and power (delta to gamma frequency bands) across the spectrum. Siblings (n = 18) fell between the levels of patients and controls. Heritability of the imaging metrics was observed in regions, where patients strongly differed from controls, mainly in beta frequencies, but also for delta and theta power. Network connectivity in GGE was heritable in frontal, central and inferior parietal brain areas and power in central, temporo-parietal, and subcortical structures. Presence of generalized spike-wave activity during recordings and medication were associated with the network patterns, whereas other clinical factors such as age of onset, disease duration or seizure control were not.ConclusionMetrics of brain oscillations are well suited to characterize GGE and likely relate to genetic factors rather than the active disease or treatment. High power and connectivity levels co-segregated in patients with GGE and healthy siblings, predominantly in the beta band, representing an endophenotype of GGE.

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Section: Discussionmentioning

confidence: 81%

Heritability of Magnetoencephalography Phenotypes Among Patients With Genetic Generalized Epilepsy and Their Siblings

et al. 2021

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“…Sensorimotor network was well-studied in epilepsy patients. Rolandic epilepsy is a form of well-characterized childhood epilepsy whose focal electroencephalographic abnormalities affect the same well-delineated local brain regions, rs-fMRI study found that the patients with Rolandic epilepsy exhibited less connectivity among the sensorimotor areas ( 29 ); another rs-fMRI study found that the synchrony was significantly higher in the sensorimotor network in IGE patients and in their unaffected relatives when compared to controls, also there was a trend toward higher synchrony in the generalized spike-wave discharges (GSW) network in patients and their unaffected relatives, those findings provide evidence that elevated fMRI BOLD synchrony in a sensorimotor network may be a state-independent endophenotype of IGE, present in patients in the absence of GSW, and present in unaffected relatives ( 30 ). In current study, the Frequency and Coverage of microstate A were larger in patients with IGE with seizures in the previous 2 years than in those without such seizures and in HCs, indicates that the sensorimotor network was altered in IGE patients and provide new evidence to support the previous rs-fMRI study ( 30 ).…”

Section: Discussionmentioning

confidence: 87%

Altered Resting-State Electroencephalography Microstates in Idiopathic Generalized Epilepsy: A Prospective Case-Control Study

Jiang

Zhu

et al. 2021

Front. Neurol.

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Objective: Idiopathic generalized epilepsy (IGE) involves aberrant organization and functioning of large-scale brain networks. This study aims to investigate whether the resting-state EEG microstate analysis could provide novel insights into the abnormal temporal and spatial properties of intrinsic brain activities in patients with IGE.Methods: Three groups of participants were chosen for this study (namely IGE-Seizure, IGE-Seizure Free, and Healthy Controls). EEG microstate analysis on the resting-state EEG datasets was conducted for all participants. The average duration (“Duration”), the average number of microstates per second (“Frequency”), as well as the percentage of total analysis time occupied in that state (“Coverage”) of the EEG microstate were compared among the three groups.Results: For microstate classes B and D, the differences in Duration, Frequency, and Coverage among the three groups were not statistically significant. Both Frequency and Coverage of microstate class A were statistically significantly larger in the IGE-Seizure group than in the other two groups. The Duration and Coverage of microstate class C were statistically significantly smaller in the IGE-Seizure group than those in the other two groups.Conclusions: The Microstate class A was regarded as a sensorimotor network and Microstate class C was mainly related to the salience network, this study indicated an altered sensorimotor and salience network in patients with IGE, especially in those who had experienced seizures in the past 2 years, while the visual and attention networks seemed to be intact.Significance: The temporal dynamics of resting-state networks were studied through EEG microstate analysis in patients with IGE, which is expected to generate indices that could be utilized in clinical researches of epilepsy.

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“…These regions also displayed increased geodesic distance, suggesting network isolation and decreased efficiency (Wandschneider et al, 2019 ). Similarly, in GGE populations, elevated sensorimotor network synchrony (Tangwiriyasakul et al, 2019 ) and interictal cortical power and connectivity (Stier et al, 2021 ) have been reported in patients and their asymptomatic siblings. These subtle but similar patterns in asymptomatic siblings suggest that genetic mechanisms might play a role in the abnormal development of thalamofrontal brain networks.…”

Section: Imaging Endophenotype In Common Epilepsymentioning

confidence: 88%

Imaging Genetics in Epilepsy: Current Knowledge and New Perspectives

Wang

Wu²,

Xu³

et al. 2022

Front. Mol. Neurosci.

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Epilepsy is a neurological network disease with genetics playing a much greater role than was previously appreciated. Unfortunately, the relationship between genetic basis and imaging phenotype is by no means simple. Imaging genetics integrates multidimensional datasets within a unified framework, providing a unique opportunity to pursue a global vision for epilepsy. This review delineates the current knowledge of underlying genetic mechanisms for brain networks in different epilepsy syndromes, particularly from a neural developmental perspective. Further, endophenotypes and their potential value are discussed. Finally, we highlight current challenges and provide perspectives for the future development of imaging genetics in epilepsy.

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Sensorimotor network hypersynchrony as an endophenotype in families with genetic generalized epilepsy: A resting‐state functional magnetic resonance imaging study

Cited by 17 publications

References 22 publications

Heritability of Magnetoencephalography Phenotypes Among Patients With Genetic Generalized Epilepsy and Their Siblings

Heritability of Magnetoencephalography Phenotypes Among Patients With Genetic Generalized Epilepsy and Their Siblings

Altered Resting-State Electroencephalography Microstates in Idiopathic Generalized Epilepsy: A Prospective Case-Control Study

Imaging Genetics in Epilepsy: Current Knowledge and New Perspectives

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