特发性全面性强直阵挛发作癫痫磁共振波谱改变的临床意义

目的 用氢质子磁共振波谱检测丘脑、基底节区、岛叶中的代谢产物,探讨其在特发性全面性强直阵挛发作癫痫发病中的作用及意义.方法 对20例特发性全面性强直阵挛发作癫痫患者进行发作间期的磁共振波谱采集,对N-乙酰天门冬氨酸、胆碱、肌酸进行半定量分析,完成检查后将以代谢物NAA/(Cho Cr)含量为灰阶的伪彩图与横断位T1图像进行融合,直观分析双侧丘脑、基底节、岛叶代谢物的分布情况.结果 GTCS组双侧丘脑NAA/Cr明显减少, NAA/(Cr Cho)比值明显低于正常对照组,差异有统计学意义(P＜0.05),而双侧基底节、岛叶的代谢物两组相比,差异无统计学意义(P＞0.05).将NAA/(Cr Cho)含量比值伪彩图与常规MRI图像进行融合,可直观发现双侧丘脑区NAA/(Cr Cho)比值与正常对照组存在明显差异.结论 特发性GTCS患者丘脑神经元丧失及胶质细胞增生可能是其共同的病理特征;发作间期丘脑可能为其癫痫形成相关脑区,或是长期癫痫发作的脑损伤区.     

Dynamic functional network connectivity in idiopathic generalized epilepsy with generalized tonic–clonic seizure

Idiopathic generalized epilepsy (IGE) has been linked with disrupted intra‐network connectivity of multiple resting‐state networks (RSNs); however, whether impairment is present in inter‐network interactions between RSNs, remains largely unclear. Here, 50 patients with IGE characterized by generalized tonic–clonic seizures (GTCS) and 50 demographically matched healthy controls underwent resting‐state fMRI scans. A dynamic method was implemented to investigate functional network connectivity (FNC) in patients with IGE‐GTCS. Specifically, independent component analysis was first carried out to extract RSNs, and then sliding window correlation approach was employed to obtain dynamic FNC patterns. Finally, k‐mean clustering was performed to characterize six discrete functional connectivity states, and state analysis was conducted to explore the potential alterations in FNC and other dynamic metrics. Our results revealed that state‐specific FNC disruptions were observed in IGE‐GTCS and the majority of aberrant functional connectivity manifested itself in default mode network. In addition, temporal metrics derived from state transition vectors were altered in patients including the total number of transitions across states and the mean dwell time, the fraction of time spent and the number of subjects in specific FNC state. Furthermore, the alterations were significantly correlated with disease duration and seizure frequency. It was also found that dynamic FNC could distinguish patients with IGE‐GTCS from controls with an accuracy of 77.91% (P < 0.001). Taken together, this study not only provided novel insights into the pathophysiological mechanisms of IGE‐GTCS but also suggested that the dynamic FNC analysis was a promising avenue to deepen our understanding of this disease. Hum Brain Mapp 38:957–973, 2017. © 2016 Wiley Periodicals, Inc.     

Voltage-gated calcium channels in the etiopathogenesis and treatment of absence epilepsy

Voltage-gated calcium channels are key elements in regulating neuronal excitability and are thus of central importance in the pathogenesis of various forms of epilepsies. Among these, absence epilepsies represent about 10% of epileptic seizures in humans. They are electroencephalographically characterized by bilateral synchronous spike-wave discharge activity associated with loss or severe impairment of consciousness. Extensive studies during the last decades revealed that pathophysiologically increased oscillatory activity, i.e., hyperoscillation within the reticulothalamocortical circuitry, is the electrophysiological correlate of absence epilepsy, with extrathalamocortical structures, e.g., brainstem and cerebellum, projecting to the thalamocortical circuitry, thereby modulating its activity. Voltage-gated calcium channels are one of the central players regulating the transition from tonic to rebound burst-firing modes in both thalamic relay and reticular thalamic nucleus neurons, the burst-firing mode being the substrate of the thalamocortical oscillation. Thus, pharmacological interference with these channels enables effective control of spike-wave discharge activity in patients suffering from absence seizures. In this review, we summarize the medical history of absence epilepsies, their classification and terminology, the diagnostic armamentarium available today and the etiopathogenesis of absences. Finally, various antiepileptic drugs that have been proven to or are supposed to exert anti-absence effects are discussed with respect to their pharmacodynamics and pharmacokinetics.     

Myoclonic epilepsy in infancy with preceding or concurrent afebrile generalized tonic-clonic seizures in Chinese children

Objective

To investigate the general characteristics and the category of myoclonic epilepsy in infancy (MEI) with or without afebrile generalized tonic-clonic seizures (GTCS).

Early childhood myoclonic epilepsy: An independent genetic generalized epilepsy with myoclonic seizures as the main seizure type

Objective

To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in early childhood, and discuss its classification.

苯巴比妥长期治疗癫(癎)患者的疗效观察

目的 探讨苯巴比妥长期治疗癫(癎)患者的疗效.方法 苯巴比妥(15岁以上,体质量超过30 kg患者每晚60 mg;15岁以下,体质量30 kg以下的患者每晚2 mg/kg)治疗136例全面性强直阵挛发作(GTCS)患者,其中50例联合其他抗癫(癎)药物(AEDs)治疗,随访5 a,观察疗效及药物不良反应.结果 136例...     

成人强直-阵挛发作和复杂部分发作癫痫患者认知功能改变的临床分析

目的:了解强直-阵挛发作(generalized tonic-clonic seizure,GTCS)和复杂部分发作(complex partial seiure,CPS)癫痫患者的认知功能损伤情况.方法:选择癫痫患者43例,其中GTCS组25例,CPS组18例,健康对照组28例,分别采用韦氏记忆量表(Wechsler...     

The inhibitory effect of trimethylamine on the anticonvulsant activities of quinine in the pentylenetetrazole model in rats

Quinine specifically blocks connexin 36 (Cx36), one of the proteins that form gap junction channels. Quinine suppressed ictal epileptiform activity in in vitro and in vivo studies without decreasing neuronal excitability. In this study, we considered the possible mechanism of anticonvulsant effects of quinine (1, 250, 500, 1000 and 2000 microM, i.c.v.) in the pentylenetetrazole (PTZ) model of seizure. Thus, we used trimethylamine (TMA) (0.05 microM, 5 microM, 50 microM), a gap junction channel opener, to examine whether it could reverse the effects of quinine in rats. Intracerebroventricular (i.c.v.) injection of quinine affected generalized tonic-clonic seizure (GTCS) induced by PTZ by increments in seizure onset and reducing seizure duration. Additionally, pretreatment with different doses of TMA (i.c.v.) attenuated the anticonvulsant effects of quinine on the latency and duration of GTCS. It can be concluded that quinine possesses anticonvulsant effects via modulation of gap junction channels, which could contribute to the control of GTCS.     

Benign myoclonic epilepsy in infancy with preceding afebrile generalized tonic–clonic seizures in Japan

Benign myoclonic epilepsy in infancy (BMEI) is the youngest form of idiopathic generalized epilepsy, characterized by myoclonic seizures (MS) in the first three years of life in otherwise normal infants, and the lack of other seizure types except for rare simple febrile seizures. Although afebrile generalized tonic–clonic seizures (GTCS) have been described to develop later in the clinical course of BMEI, mostly during adolescence, an association with GTCS in the early stage of BMEI has never been recognized. We herein report seven children who satisfied the criteria of BMEI except for the recurrence of GTCS before the onset of MS. The age of onset and ictal video-polygraphic features of MS, as well as the long-term seizure and developmental outcome in these children were similar to those of children with typical BMEI. Furthermore, these GTCS mostly disappeared within several months and were replaced by MS. Our study indicates that these children may constitute a BMEI subgroup, expanding the spectrum of BMEI.