Brain Morphology in Patients with Genetic Generalized Epilepsy: Its Heterogeneity among Subsyndromes

Park, Kang Min; Kim, Sung Eun; Lee, Ki Young; Hur, Yun Jung

doi:10.1159/000496698

Cited by 13 publications

(7 citation statements)

References 24 publications

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“…Simultaneous acquisition of EEG-fMRI showed significantly reduced connectivity between DMN and the occipital cortex in patients with IGE and uncontrolled seizures [20]. Studies have also reported aberrant cortical thickness and gray matter volume in the occipital lobe in patients with JME, mainly in the fusiform, lingual gyrus, and lateral occipital cortex [21,22]. Our results of decreased functional activity and global connectivity in the occipital cortex are consistent with those findings.…”

Section: Discussionsupporting

confidence: 90%

Altered brain activity in juvenile myoclonic epilepsy with a monotherapy: a resting-state fMRI study

Qin

Zhang

Ren

et al. 2022

Acta Epileptologica

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Background Juvenile myoclonic epilepsy (JME) is the most common syndrome of idiopathic generalized epilepsy. Although resting-state functional magnetic resonance imaging (rs-fMRI) studies have found thalamocortical circuit dysfunction in patients with JME, the pathophysiological mechanism of JME remains unclear. In this study, we used three complementary parameters of rs-fMRI to investigate aberrant brain activity in JME patients in comparison to that of healthy controls. Methods Rs-fMRI and clinical data were acquired from 49 patients with JME undergoing monotherapy and 44 age- and sex-matched healthy controls. After fMRI data preprocessing, the fractional amplitude of low-frequency fluctuation (fALFF), regional homogeneity (ReHo), and degree centrality (DC) were calculated and compared between the two groups. Correlation analysis was conducted to explore the relationship between local brain abnormalities and clinical features in JME patients. Results Compared with the controls, the JME patients exhibited significantly decreased fALFF, ReHo and DC in the cerebellum, inferior parietal lobe, and visual cortex (including the fusiform and the lingual and middle occipital gyri), and increased DC in the right orbitofrontal cortex. In the JME patients, there were no regions with reduced ReHo compared to the controls. No significant correlation was observed between regional abnormalities of fALFF, ReHo or DC, and clinical features. Conclusions We demonstrated a wide range of abnormal functional activity in the brains of patients with JME, including the prefrontal cortex, visual cortex, default mode network, and cerebellum. The results suggest dysfunctions of the cerebello-cerebral circuits, which provide a clue on the potential pathogenesis of JME.

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Section: Discussionsupporting

confidence: 90%

Altered brain activity in juvenile myoclonic epilepsy with a monotherapy: a resting-state fMRI study

Qin

Zhang

Ren

et al. 2022

Acta Epileptologica

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“…Existing studies show that 30% of JME patients are photosensitive (Wolf and Goosses, 1986). Some studies have found that there are abnormal cortical thickness and gray matter volume in the occipital lobe of JME patients, and most of them occur in the fusiform, lingual gyrus, and lateral occipital cortex (Park et al, 2018). Our results support the abnormal structure and functional performance of the above nodes.…”

Section: Discussionsupporting

confidence: 85%

Multilayer brain network modeling and dynamic analysis of juvenile myoclonic epilepsy

Wang

Liu

2023

Front. Behav. Neurosci.

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Objective: It is indisputable that the functional connectivity of the brain network in juvenile myoclonic epilepsy (JME) patients is abnormal. As a mathematical extension of the traditional network model, the multilayer network can fully capture the fluctuations of brain imaging data with time, and capture subtle abnormal dynamic changes. This study assumed that the dynamic structure of JME patients is abnormal and used the multilayer network framework to analyze the change brain community structure in JME patients from the perspective of dynamic analysis.Methods: First, functional magnetic resonance imaging (fMRI) data were obtained from 35 JME patients and 34 healthy control subjects. In addition, the communities of the two groups were explored with the help of a multilayer network model and a multilayer community detection algorithm. Finally, differences were described by metrics that are specific to the multilayer network.Results: Compared with healthy controls, JME patients had a significantly lower modularity degree of the brain network. Furthermore, from the level of the functional network, the integration of the default mode network (DMN) and visual network (VN) in JME patients showed a significantly higher trend, and the flexibility of the attention network (AN) also increased significantly. At the node level, the integration of seven nodes of the DMN was significantly increased, the integration of five nodes of the VN was significantly increased, and the flexibility of three nodes of the AN was significantly increased. Moreover, through division of the core-peripheral system, we found that the left insula and left cuneus were core regions specific to the JME group, while most of the peripheral systems specific to the JME group were distributed in the prefrontal cortex and hippocampus. Finally, we found that the flexibility of the opercular part of the inferior frontal gyrus was significantly correlated with the severity of JME symptoms.Conclusion: Our findings indicate that the dynamic community structure of JME patients is indeed abnormal. These results provide a new perspective for the study of dynamic changes in communities in JME patients.

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“…Another frequent CT pathology was cerebral atrophy, which is a common finding in PWE, but the significance and aetiology is hard to determine [26]. The rate of this pathology was higher in patients with general onset seizures, which is also known from previous studies, where patients with idiopathic generalised and genetic seizure syndromes showed diffuse and wide-spread alterations of brain morphology [26][27][28]. Detailed MRI analyses in these patients sometimes also reveal (wide-spread) cerebral malformations such as lissencephaly with pachygyria or microgyria potentially causing both focal and generalized seizures [29].…”

Section: Discussionmentioning

confidence: 84%

Characteristics of people with epilepsy in three Eastern African countries – a pooled analysis

et al. 2022

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Background Epilepsy is one of the most common neurological disorders worldwide. Yet, its treatment gap is large in some areas and especially in sub-Saharan Africa data on clinical, radiological and semiological characteristics, as well as on treatment of persons with epilepsy (PWE) are still scarce. Methods We pooled data from four cross-sectional studies on epilepsy in eastern Africa. Two studies from Malawi and Uganda were community-based; two studies in Tanzania (urban Dar es Salaam and rural Haydom) were hospital-based. Clinical characteristics of PWE were assessed by the same questionnaire. Additionally, data on treatment were collected and computed tomography (CT) scans were performed. Results Overall, 1179 PWE were included in our analysis (581 (49.3%) female, median age 22 years (IQR 15–32 years)). Up to 25% of the patients had focal onset seizures. Those showed a higher rate of remarkable CT scan findings, with especially post-ischaemic and neurocysticercosis-associated lesions, compared to PWE with generalized onset seizures (35.1% vs. 20%). The majority of the patients experienced tonic–clonic seizures (70–85%). Only 67–78% of PWE received anti-seizure medication (ASM) treatment in the community-based studies, mostly monotherapy with phenobarbital, phenytoin or carbamazepine. Yet, underdosage was frequent and a large proportion of PWE received alternative non-ASM treatment consisting of herbal treatment (up to 83%) and/or scarification (up to 20%). Conclusions Epilepsy is common in sub-Saharan Africa, often caused by neurocysticercosis or ischaemic strokes. PWE suffer from high seizure rates and subsequent injuries, as well as from socio-economic consequences due to insufficient ASM treatment. This pooled analysis illustrates the need for structural programmes for adequate identification, education, assessment and treatment of PWE in sub-Saharan Africa.

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Brain Morphology in Patients with Genetic Generalized Epilepsy: Its Heterogeneity among Subsyndromes

Cited by 13 publications

References 24 publications

Altered brain activity in juvenile myoclonic epilepsy with a monotherapy: a resting-state fMRI study

Altered brain activity in juvenile myoclonic epilepsy with a monotherapy: a resting-state fMRI study

Multilayer brain network modeling and dynamic analysis of juvenile myoclonic epilepsy

Characteristics of people with epilepsy in three Eastern African countries – a pooled analysis

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