Multimodal Imaging and Connectome Analysis Laboratory, McConnell Brain Imaging Centre, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.
Institute for Neuroscience and Medicine (INM-1), Forschungszentrum Jülich, Jülich, Germany.
Nat Commun. 2022 Jul 27;13(1):4320. doi: 10.1038/s41467-022-31730-5.
Epilepsy is associated with genetic risk factors and cortico-subcortical network alterations, but associations between neurobiological mechanisms and macroscale connectomics remain unclear. This multisite ENIGMA-Epilepsy study examined whole-brain structural covariance networks in patients with epilepsy and related findings to postmortem epilepsy risk gene expression patterns. Brain network analysis included 578 adults with temporal lobe epilepsy (TLE), 288 adults with idiopathic generalized epilepsy (IGE), and 1328 healthy controls from 18 centres worldwide. Graph theoretical analysis of structural covariance networks revealed increased clustering and path length in orbitofrontal and temporal regions in TLE, suggesting a shift towards network regularization. Conversely, people with IGE showed decreased clustering and path length in fronto-temporo-parietal cortices, indicating a random network configuration. Syndrome-specific topological alterations reflected expression patterns of risk genes for hippocampal sclerosis in TLE and for generalized epilepsy in IGE. These imaging-transcriptomic signatures could potentially guide diagnosis or tailor therapeutic approaches to specific epilepsy syndromes.
癫痫与遗传风险因素和皮质-皮质下网络改变有关，但神经生物学机制与宏观连接组学之间的关联仍不清楚。这项多中心 ENIGMA-Epilepsy 研究检查了癫痫患者的全脑结构协变网络，并将相关发现与尸检癫痫风险基因表达模式相关联。脑网络分析包括来自全球 18 个中心的 578 名颞叶癫痫（TLE）成人患者、288 名特发性全面性癫痫（IGE）成人患者和 1328 名健康对照者。结构协变网络的图论分析显示，TLE 患者的眶额和颞叶区域的聚类和路径长度增加，表明网络正则化的转变。相反，IGE 患者的额颞顶叶皮质的聚类和路径长度减少，表明网络配置随机。综合征特异性拓扑改变反映了 TLE 中海马硬化症和 IGE 中全面性癫痫风险基因的表达模式。这些影像学-转录组学特征可能有助于指导特定癫痫综合征的诊断或定制治疗方法。
