Accurate detection and resection of the epileptogenic zone (EZ) in patients with long-term epilepsy-associated tumors (LEATs) are significantly correlated with favorable seizure prognosis. However, the relationship between tumors and the EZ remains unknown. This study aimed to evaluate the spatial relationship between LEATs and the EZ, as well as the electrophysiological features of LEATs. We retrospectively studied five patients with LEATs who underwent deep electrode implantation and EZ resection in the hospital. The clinical characteristics, surgical outcomes, localizing features and intracranial SEEG results were reviewed. One female and four males (mean age: 25.2 years; median age: 24 years; range: 13–45 years) were included in the study. Five-to-eleven electrodes (mean: 8.4) were implanted per patient. The EZ was located in the tumor and nearby cortex in three cases and in the tumor and distant areas in two cases. Pathological examination revealed ganglioglioma in four cases, two of which were associated with hippocampal sclerosis, and the other case showed a multinodular and vacuolating neuronal tumor with gliosis. All patients were seizure-free for at least 24 months postoperatively. SEEG provides valuable insights into the electrophysiological mechanisms of LEATs. The EZ often contains brain tissue around the tumor. However, only a few cases, particularly those with temporoparietal occipital (TPO) area involvement, a long history of epilepsy and other abnormalities on MRI, such as hippocampal sclerosis and focal cortical dysplasia, may include distant areas.

目的 探讨SCN2A(Sodium channel,voltage-gated,typeⅡ,alpha)基因突变所致癫痫的遗传及表型特点.方法 收集广东三九脑科医院癫痫中心2016年8至2021年4月收治的癫痫患儿,应用全外显捕获高通量测序技术发现SCN2A基因突变者,回顾性总结分析患儿临床及遗传资料.结果 共收集14例SCN2A基因突变阳性患儿,其中男7例,女7例,起病年龄1 d～6岁,其中3月龄内起病者8例(57.1％),3月龄后起病者6例(42.9％).共发现13种突变,均为杂合错义突变.2例携带相同母源SCN2A突变,均为良性家族性癫痫;3例携带父源突变,其中2例发作缓解(66.7％);9例为新发突变,4例发作缓解(44.4％).14例SCN2A突变癫痫患儿存在多种发作类型,以局灶性发作(64.3％)、痉挛发作(42.9％)、强直发作(35.7％)为主,其他发作类型较为少见;8例患者有丛集性发作(57.1％).14例患儿脑电图可见多种放电模式,以局灶性放电8例(57.1％)、弥漫性放电6例(42.9％)、多灶性放电5例(35.7％)多见.头部磁共振成像(Magnetic resonance imaging,MRI)以大脑发育不良(白质发育不良、白质变性、脑室发育不良、胼胝体发育不良、弥漫性脑萎缩)多见(42.9％).除2例良性家族性癫痫患儿外,12例发育性/癫痫性脑病患儿,2例大田原综合征,3例韦斯特综合征,3例发育性脑病,3例发育性癫痫性脑病,1例婴儿游走性部分性发作,发育均呈中重度发育迟缓;其中3月龄前起病者(早发SCN2A相关癫痫)10例,5例发作缓解;3月龄后起病者(晚发SCN2A相关癫痫)2例,1例发作缓解.14例患儿抗癫痫治疗方案有较大个体差异,2例良性家族性癫痫对德巴金效果佳;12例发育性/癫痫性脑病患儿中10例早发SCN2A相关癫痫患儿有6例尝试奥卡西平,4例有效(66.7％);3例晚发患儿,1例应用且无效,但无加重发作.结论 SCN2A基因突变以错义突变为主,新发错义突变较遗传性突变预后差.SCN2A突变导致电压门控钠离子通道(Voltage-gated Na channel,VGNC或Nav)的Ⅱ型N av 1.2两种功能改变:获得功能和丧失功能,早发型(起病年龄<3月龄)N av 1.2以获得功能为主,对钠离子通道阻滞剂(Sodium channel blockers,SCBs)效果佳;晚发型(起病年龄≥3月龄)Nav 1.2以丧失功能为主,对SCBs效果差,甚至可能加重发作.SCBs首选适量苯妥英钠治疗.其他治疗如奥卡西平、生酮饮食、促肾上腺皮质激素(Adrenocorticotropic horme,ACTH)、氨己烯酸亦可尝试,且应个体化调整治疗方案.

Background Insulo-opercular seizures are highly heterogeneous in seizure semiology and electrical features. Bilateral asymmetric limb posturing, as a classical pattern of supplementary sensorimotor area (SMA) seizure, also occurs in insulo-opercular epilepsy. This study was aimed to study the anatomo-electro-clinical correlations in bilateral asymmetric tonic seizures (BATS), in order to advance the understanding of insulo-opercular epilepsy. Methods Eight patients with insulo-opercular epilepsy as confirmed by stereoelectroencephalography (SEEG) and manifesting BATS as the major ictal motor sign, in Guangdong Sanjiu Brain Hospital Epilepsy Center from 2014 to 2018, were employed in this study. The BATS of the patients were evaluated, and the semiologic features and concomitant intracerebral EEG changes were quantified. Then the variables were examined with Cluster Analysis, and the semiologic features were correlated with anatomic localization using the Kendall correlation test. Results Of the 8 patients, the most frequent initial motor sign was bilateral asymmetric tonic posturing (62.5%). Facial tonic-clonic sign also had a high prevalence in the evolution of seizures (87.5%). The results of Cluster Analysis showed that the semiologic features were subdivided into two main groups, one group comprising exclusively BATS and the other including signs of focal tonic seizure, aura, focal limb tonic-clonic seizure (TCS), facial TCS, hypermotor behavior, eye movement, autonomic changes and generalized TCS. The BATS was strongly associated with the posterior long gyrus (PLG) of insula (t = 0.732) and parietal operculum (t = 1.000); the hypermotor behaviors were associated with the anterior long gyrus (ALG) (t = 0.770); and the autonomic changes were associated with the anterior limiting sulcus (ALS) (t = 0.734) and middle short gyrus (MSG) (t = 0.700). Conclusions The seizure semiology of insulo-opercular epilepsy is characterized, in temporal order, by BATS, with or without simultaneous hypermotor behaviors, and frequently ends up with facial tonic-clonic signs, which is different from that of the SMA seizure. The early spread network involving the posterior insular lobe and parietal operculum may contribute to this pattern of manifestation.

OBJECTIVE:To explore the strategy of surgical treatment of low-grade brain tumors associated with epilepsy.METHODS:Clinical data of 158 patients with low-grade brain tumors were collected from January 2011 to December 2017 in Guangdong Sanjiu brain hospital. All patients received Preoperative evaluation. Lesion site: 18 cases were located in multiple cerebral lobes, 10 cases were in the functional zones, 130 cases were in the non-functional zones (including 74 cases were in the medial of temporal lobe). The surgical strategy included subtotal resection, gross-total resection and enlarged resection. Postoperative effects were evaluated by Engel classification.RESULTS:A total of 158 patients underwent surgical treatment, among these patients, only 1 patient underwent intracranial electrode implantation. Surgical methods: 34 cases of subtotal resection, 3 cases of gross-total resection, 119 cases of enlarged resection (including Anterior temporal lobectomy in 74 cases) and 2 case of Selective hippocampal amygdalectomy. The final pathology suggested that there are 74 cases of ganglionglioma, 25 cases of dysembryoplastic neuroepithelial tumors, 9 cases of pilocytic astrocytoma, 16 cases of oligodendroglioma, 10 cases of pleomorphic xanthoastrocytoma, 4 case of diffuse astrocytoma, 9 cases of unclassified astrocytoma, 11 case of oligoastrocytoma. The follow-up time was between 1 and 7 years, with an average of 3.44±1.77 years. Postoperative recovery: 147 patients had an Engel Class I outcome, 10 patients were in Engel Class II, 1 patient was in Class IV.CONCLUSION:The strategy of surgical treatment of low-grade brain tumors associated with epilepsy should pay more attention to the preoperative assessment of the epileptogenic zone. The tumor is not exactly the same as the epileptogenic zone, and the strategy of surgical treatment depends on the tumor feature as well as whether it was located in temporal lobe or involved in functional areas.

目的 分析血清基质金属蛋白酶-9 (matrix metalloproteinase-9,MMP-9)、肿瘤坏死因子-α(tumor necrosis factor-α,TNF-α)、γ干扰素(interferon-γ,INF-γ)水平与癫痫患儿脑电图的关系.方法 选择2016年1月至2018年6月华中科技大学协和深圳医院收治的64例癫痫患儿纳入观察组,随机选取同期来该院体检且与观察组患儿年龄、性别相匹配的30例健康儿童纳入对照组,采集两组儿童空腹肘静脉血,测定并比较血清MMP-9、TNF-α、INF-γ水平;监测观察组患儿脑电图,计算脑电图放电指数,分析上述因子水平与脑电图的关系.结果 观察组患儿血清MMP-9、TNF-α、INF-γ水平和脑电图放电指数均显著高于对照组(均P＜ 0.05);癫痫持续状态患儿血清MMP-9、TNF-α、INF-γ水平和脑电图放电指数均显著高于癫痫频发、非癫痫频发非持续状态患儿(均P＜ 0.05),癫痫频发患儿血清MMP-9、TNF-α、INF-γ水平和脑电图放电指数均显著高于非癫痫频发非持续状态患儿(均P＜ 0.05).不同发作类型癫痫患儿血清MMP-9、TNF-α、INF-γ水平和脑电图放电指数比较差异均无统计学意义(均P＞ 0.05).脑电图非特异性异常波、癫痫样波患儿血清MMP-9、TNF-α、INF-γ水平均显著高于脑电图正常患儿(均P＜ 0.05),脑电图癫痫样波患儿血清MMP-9、TNF-α、INF-γ水平均显著高于脑电图非特异性异常波患儿(均P＜ 0.05).癫痫患儿脑电图异常率和脑电图放电指数与血清MMP-9、TNF-α、INF-γ水平均呈正相关(均P＜0.05).结论 癫痫患儿血清MMP-9、TNF-α、INF-γ水平较高,且与脑电图异常率和脑电图放电指数均呈正相关.

目的 脑卒中后癫痫发作的临床特点和脑电图表现和危险因素.方法 回顾性选取2012年3月-2016年9月在我院住院治疗的脑卒中患者的临床资料983例,出现脑卒中后癫痫发作69例,收集患者的人口学资料、既往史、基本临床情况、脑卒中情况、NIHSS、癫痫发作的时间和类型.对上述可能影响脑卒中后癫痫发作的指标进行单因素分析,进一步选择有统计学意义的指标进行多因素Logistic回归分析.结果 脑卒中患者继发癫痫的比率较高,主要为早发性癫痫,所有患者均有脑电图异常表现;多因素Logistic回归分析结果显示,高同型半胱氨酸血症(OR=2.264)、电解质紊乱(OR=2.126)、病灶部位在皮质下(OR=2.172)、病灶范围大(OR=2.264)、NIHSS评分≥25分(OR=2.320)是脑卒中后癫痫发作的危险因素(P<0.05).结论 密切关注脑卒中后癫痫发作的临床特点和脑电图表现,对相关危险因素进行及时处理,对指导患者健康教育、临床治疗和康复训练有重要意义.

目的 探讨多形性黄色星形细胞瘤的临床及影像学特征.方法 对2012年1月至2016年6月在广东三九脑科医院癫痫外科,接受手术治疗的10例多形性黄色星形细胞瘤患者的临床及影像学资料进行回顾性分析.结果 MRI检查示,10例患者均为囊实性改变,其中3例患者为大结节小囊、7例患者为小结节大囊;病变位于左颞叶7例、左颞枕交界区1例、右颞叶1例及左侧额中央区1例;增强扫描示,7例患者的肿瘤实性部分和壁结节明显强化,1例患者软脑膜强化,2例患者无强化.8例患者行肿瘤全切术,2例患者行部分切除术.10例患者的临床疗效均满意,术后9例癫痫患者均无发作,1例患者的头痛缓解.随访时间为1～5年不等,术后复查均无复发征像.结论 多形黄色星形细胞瘤临床表现多以癫痫发作起病;影像学检查常见囊结节改变,病变多位于幕上,占位及水肿效应轻.最终诊断需依赖病理学检查.

Objective To explore the common causes of epilepsy and the etiologic characteristics in different age groups of patients with epilepsy.Methods A retrospective survey was made in 5572 epilepsy patients in Epileptic Center of Guangdong 999 Brain Hospital from January 2003 to December 2009.According to the diagnostic criteria published in 2005 from ILAE,all the diagnoses of 5572 cases were made by epileptic specialists.Based on history,cranial MRI or CT and pathologic data,causes of epilepsy were classified into idiopathic,symptomatic and cryptogenic epilepsy.The cases of symptomatic epilepsy were further arranged into different categories in different age grades,such as head trauma,perinatal injuries,infection in central nervous system, cerebral vascular disease, brain tumor, disorders of cortical development,neurocutaneous syndrome and others.The cases with febrile seizures and family history were collected,and positive ratio of febrile seizures and family history were contrasted in different categories of cases by Kruskal-Wallis test ( nonparametric test ).Results In 5572 cases,66 were idiopathic,2834 symptomatic,2672 cryptogenic,and the ratio of these causes was 1％,51％,48％ respectively.Among 2834 cases of symptomatic epilepsy,822 were head trauma,497 were perinatal injuries,360 were infection in central nervous system,249 were brain tumor,150 were cerebral vascular disease,135 were disorders of cortical development,62 were neurocutaneous syndrome and 559 were others. In brief,head trauma,perinatal injuries,infection in central nervous system,brain tumor and cerebral vascular disease were top 5 causes of symptomatic epilepsy. Hippocampal sclerosis was found in 744 cases in those of eryptogenic epilepsy.The importance of febrile seizures( idiopathic:15.2％ ( 10/66 ),symptomatic:6.5％ ( 185/2834 ),cryptogenic:9.4％ ( 250/2672 ) ; x2 =181.393,P =0.000 ) and family history ( idiopathic:83.3％ ( 55/66 ),symptomatic:1.1％ (31/2834),cryptogenic:0.4％ (12/2672) ; x2 =68.354,P =0.000) was statistically different in different causes of epilepsy.Febrile seizures was the most frequent in cases with hippocampal sclerosis than those with other causes,and family history was the most frequent in neurocutaneous syndrome in symptomatic cases.Perinatal injurics was thc first causc in cases of infancy and childhood,head trauma was the top one in those of juvenile and adulthood,and cerebral vascular disease was the main cause in senile cases. Conclusions In the whole epileptic cases of 5572, 1％ was idiopathic,51％ was symptomatic,and 48％ cryptogenic. The main causes of them were head trauma,perinatal injuries,infection in central nervous system,brain tumor,and cerebral vascular disease.