From the Clinic of Clinical Neurophysiology (C.S., R.K., N.K.F.), University Medical Center Göttingen; Department of Neurology and Epileptology, Hertie Institute of Clinical Brain Research (C.S., A.E., Y.L.H., R.K., J.M., H.L., N.K.F., C.B.), and MEG Center (C.B.), University of Tübingen, Germany; Department of Neurology (A.E.), University Hospital Zurich; Institute of Psychology (R.K.), University of Bern, Switzerland; and CIMeC (C.B.), Center for Mind/Brain Sciences, University of Trento, Italy.
Neurology. 2021 Jul 13;97(2):e166-e177. doi: 10.1212/WNL.0000000000012144. Epub 2021 May 27.
To assess whether neuronal signals in patients with genetic generalized epilepsy (GGE) are heritable, we examined magnetoencephalography resting-state recordings in patients and their healthy siblings.
In 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 6 frequency bands (1-40 Hz). We further calculated intraclass correlations to estimate heritability for the imaging patterns within families.
Compared with controls (n = 45), patients with GGE (n = 25) showed widespread increased functional connectivity (θ to γ frequency bands) and power (δ to γ 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 β frequencies, but also for δ and θ 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 at onset, disease duration, or seizure control were not.
Metrics 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 β band, representing an endophenotype of GGE.
为了评估遗传全面性癫痫（GGE）患者的神经元信号是否具有遗传性，我们对患者及其健康兄弟姐妹的脑磁图静息状态记录进行了检查。
在一项前瞻性、横断面设计中，我们对患者、兄弟姐妹和对照组进行了源重建功率和功能连接分析。我们分析了无癫痫样放电的 6 个频带（1-40 Hz）中 5 分钟的清洁和清醒数据。我们进一步计算了组内相关系数，以估计家族内成像模式的遗传性。
与对照组（n=45）相比，GGE 患者（n=25）表现出广泛的功能连接（θ到γ频带）和功率（δ到γ频带）增加。兄弟姐妹（n=18）处于患者和对照组之间的水平。在患者与对照组差异较大的区域观察到成像指标的遗传性，主要在β频带，但也在δ和θ功率上。GGE 的网络连接在额、中央和下顶叶脑区具有遗传性，而在中央、颞顶叶和皮质下结构中则具有功率遗传性。记录期间出现全身性棘波-慢波活动和药物治疗与网络模式有关，而其他临床因素如发病年龄、疾病持续时间或发作控制与网络模式无关。
脑振荡指标非常适合表征 GGE，并且可能与遗传因素有关，而与疾病的活动或治疗无关。GGE 患者和健康兄弟姐妹的高功率和连接水平主要在β频带中共同聚集，代表 GGE 的一个内表型。
