I131内放射治疗对成人恶性脑胶质瘤癫痫发作的影响

目的:探讨内放射治疗对胶质瘤引起的癫痫的影响.方法:回顾性分析2004年后利用I131内放射治疗的成人幕上恶性脑胶质瘤合并有癫痫发作的患者23例,统计其在治疗前1月及治疗后1月、2月时的癫痫发作频率和类型,并分析肿瘤体积变化与发作频率变化的关系.结果:治疗后1月癫痫发作无明显改变,治疗后2个月癫痫发作明显减少,13例无癫痫发作,另外10例有发作患者频率也明显下降,其中肿瘤缩小超过1/2者78％无癫痫发作.结论:I131内放射治疗的成人幕上恶性脑胶质瘤可以明显减少患者的癫痫发作.     

叶酸联合维生素B12对儿童癫痫患者同型半胱氨酸水平的影响

目的：观察叶酸联合维生素B12对儿童癫痫患者同型半胱氨酸（Hcy）水平的影响。方法：选取我院2017年1月—2020年12月就诊,接受治疗的98例儿童癫痫患者为研究对象。按照随机数字表,将98例患者随机分为干预组和对照组各49例,两组患者性别、年龄、病程、发病频率间均无差异（P>0.05）,具有可比性。对照组患者选择临床一线治疗药物进行抗癫痫治疗,干预组患者在对照组用药基础上,添加0.4 mg叶酸+100 μg维生素B12进行辅助治疗,对患者进行为期3个月的跟踪随访。测定两组患者干预前、干预1个月、干预3个月后血清Hcy、叶酸和维生素B12水平,比较两者患者干预前后血清Hcy、叶酸和维生素B12水平变化,同时记录患者癫痫发作次数和每次发作持续时间,比较两者患者发作次数和持续时间的差异。结果：治疗前,两组患者血清Hcy、叶酸和维生素B12水平比较均无统计学差异。经叶酸联合维生素B12干预1个月、3个月后,干预组患者血清Hcy水平均显著降低（P<0.05）,叶酸及维生素B12水平均显著增高（P<0.05）,而对照组患者血清Hcy水平出现增高现象（P<0.05）,叶酸及维生素B12水平未观察到差异（P>0.05）,干预组与对照组相比,血清Hcy、叶酸和维生素B12水平均有差异（P<0.05）;干预组患者癫痫发作频率显著低于对照组患者,发作持续时间显著短于对照组患者（P<0.001）。结论：叶酸联合维生素B12对儿童癫痫患者进行辅助治疗,可显著降低血清Hcy水平,降低癫痫发作频率,缩短癫痫发作时间,值得在临床推广应用。     

I131内放射治疗对成人恶性脑胶质瘤癫痫发作的影响

目的：探讨内放射治疗对胶质瘤引起的癫痫的影响。方法：回顾性分析2004年后利用I131内放射治疗的成人幕上恶性脑胶质瘤合并有癫痫发作的患者23例,统计其在治疗前1月及治疗后1月、2月时的癫痫发作频率和类型,并分析肿瘤体积变化与发作频率变化的关系。结果：治疗后1月癫痫发作无明显改变,治疗后2个月癫痫发作明显减少,13例无癫痫发作,另外10例有发作患者频率也明显下降,其中肿瘤缩小超过1／2者78％无癫痫发作。结论：I131内放射治疗的成人幕上恶性脑胶质瘤可以明显减少患者的癫痫发作。     

唑尼沙胺单药治疗儿童癫痫疗效及骨代谢的影响

目的:探讨唑尼沙胺(Zonisamide ZNS)对儿童癫痫疗效及骨代谢的影响。方法:选择2013年3月至2014年3月到河北省儿童医院神经内科门诊及病房就诊的新诊断癫痫患儿,其中男性36名,女性24名,年龄在2-14岁,给予唑尼沙胺单药治疗,分别于服药前、服药后6月查血甲状旁腺素、血钙、磷、碱性磷酸酶和骨密度测定,并与对照组进行对比。对照组选择就诊于儿保科年龄、性别相匹配的正常儿童。并分析癫痫患儿发作频率及严重程度,评估疗效。结果:唑尼沙胺治疗53例癫痫患儿中,42例(79.2)无发作,8例(15%)有效,3例(5.7%)无效。且对骨代谢相关血清学指标、骨密度无明显影响。结论:ZNS对儿童癫痫有显著疗效,是一种广谱、耐受良好的抗癫痫药。     

癫痫与认知功能

癫痫是神经系统最常见的疾病之一,以反复的自发发作为特征,还伴随着对认知,心理以及社交的影响。相比一般人群,癫痫患者更容易罹患认知和行为的障碍,认知障碍在新诊断的部分或者全面性癫痫发作的成人癫痫患者中均有报道。癫痫发作类型、病因、神经病理、发作类型、发作年龄、社会心理问题等一系列因素都和认知功能障碍相关,而且目前癫痫主要的治疗方法（如抗癫痫药物治疗和外科手术）也和认知及行为障碍相关。对于这些与治疗相关的副作用,临床治疗应该警惕并且尽量避免或者缩小负面的影响。本文从生物学因素、心理社会学因素及治疗相关的因素三个方面综述了癫痫与认知障碍之间的关系,为临床治疗和预防癫痫提供指导。     

脑血管病继发癫痫66例临床研究

目的:探讨脑血管病与继发性癫痫的关系。方法:对66例脑血管病继发性癫痫作总结分析。结果:早期型癫痫43例,迟发型癫痫23例。病变部位多侵及脑叶(47/66),癫痫以全面发作居多,治疗效果佳。结论:脑血管病是继发性癫痫的重要原因之一,早期型癫痫多不需长期服抗癫痫药,迟发型癫痫多需长期服抗癫痫药,脑血管病急性期癫痫发作组患者死亡率明显高于非癫痫组,癫痫持续状态提示患者病情危重、预后不良。     

癫痫与认知功能

癫痫是神经系统最常见的疾病之一,以反复的自发发作为特征,还伴随着对认知,心理以及社交的影响.相比一般人群,癫痫患者更容易罹患认知和行为的障碍,认知障碍在新诊断的部分或者全面性癫痫发作的成人癫痫患者中均有报道.癫痫发作类型、病因、神经病理、发作类型、发作年龄、社会心理问题等一系列因素都和认知功能障碍相关,而且目前癫痫主要的治疗方法(如抗癫痫药物治疗和外科手术)也和认知及行为障碍相关.对于这些与治疗相关的副作用,临床治疗应该警惕并且尽量避免或者缩小负面的影响.本文从生物学因素、心理社会学因素及治疗相关的因素三个方面综述了癫痫与认知障碍之间的关系,为临床治疗和预防癫痫提供指导.     

癫痫患儿应用生酮饮食治疗的效果观察

目的:观察生酮饮食不同时间治疗不同年龄阶段的癫痫患儿的临床效果,为临床治疗提供指导。方法:将接受生酮饮食治疗的49例患儿进行严格筛选后挑选42名患儿进入临床观察,遂饮食逐步调整为(糖+蛋白质)/脂肪比例为1:2或1:3,并进行随访,将其分为治疗时间组及年龄组进行分别观察。时间组观察入院前3个月及生酮饮食治疗3、6、12个月及以上时间患儿癫痫发作的情况。年龄组观察8个月-5岁、5岁-12岁、12岁-15岁患儿治疗相同时间癫痫发作情况其治疗效果按Engel标准分级进行统计。结果:患儿在应用生酮饮食治疗6个月后与治疗3个月后相比,患儿的癫痫发作频率明显降低(X~2=23.011,P0.05),与治疗12个月后相比,12个月后大部分患儿癫痫发作可得到有效控制(X~2=65.798,P0.001).而8个月-5岁的患儿癫痫在治疗3个月时,与5岁-12岁年龄段的患儿相比癫痫发作开始有所减少,但没有明显的差异(X~2=5.782,P=0.123),与12岁-15岁患儿相比有较明显的差异(X~2=10.696,P=0.013),6个月后,8个月-5岁患儿癫痫发作的次数明显降低,与5岁-12岁的患儿癫痫发作次数相比差异更加明显(X~2=12.215,P=0.007).12岁-15岁患儿虽也有改善,但与8个月-5岁相比效果不及低年龄段的患儿(X~2=14.766,P=0.002),治疗12个月后有相同的结果(X~2=11.869、18.290,P=0.007、P0.001)。坚持生酮饮食治疗时间12月的患儿愈后情况明显比治疗时间≥12个月的患儿差,差异具有统计学意义(2=9.548,P=0.023)。年龄越小应用生酮饮食治疗患儿的愈后情况越好。差异具有统计学意义(X~2=14.020,P=0.029)。结论:年龄越小的癫痫患儿接受生酮饮食治疗时间越长,治疗效果越好。生酮饮食对于癫痫患儿癫痫的发作有良好的治疗效果。     

脑血管病所致癫痫发作的临床分析

目的 研究脑血管病后癫痫发作病人的临床分型及其与原发病和病灶的关系,评价脑电图、CT、MRI对癫痫的诊断价值以及治疗效果。方法 收集门诊病房几年来治疗的脑血管病合并癫癫发作的病人85例。按癫痫发作发生的时间和临床表现分型,每例病人均做CT、MRI和EEG。将数据进行统计学处理。结果 本组资料中,早期型癫痫26例（31％）,迟发型癫痫59例（69％）。癫痫发作类型以额叶癫痫最常见。脑梗死及多发病灶患者占比例大。药物治疗控制发作效果较好。脑电图能反映病情变化,病情控制后,服电图也逐渐好转。而CT、MRI地病灶的定位不能反映癫痫的类型。结论 多发病灶易致癫痫发作,额叶癫痫最常见。脑电图对癫痫的诊断和判断癫痫的控制很有帮助。CT、MRI无助于癫痫的诊断和评价。药物治疗效果较好。     

长程颅内电极埋藏监测致痫灶治疗难治性癫痫的手术护理模式研究

目的:研究长程颅内电极埋藏监测致痫灶治疗难治性癫痫的手术护理模式 方法:回顾性总结120例颅内电极埋藏监测致痫灶治疗难治性癫痫的手术配合过程.结果:认为手术室护士全面了解手术过程,将患者存在的心理危机迅速识别出来,手术期间实施有效的心理护理和安全防护,熟练掌握手术步骤,熟悉各种精密仪器的作用原理和使用,是手术顺利进行的重要保证.结论:在癫痫患者控制发作及提高生活质量间找到最佳结合点,可使患者得到有效治疗和护理.     

颅内电极在感觉运动区皮质发育不良癫痫手术中的应用

目的:探讨长程颅内电极监测及电刺激方法,在感觉运动区皮质发育不良的难治性癫痫外科手术评估中的意义。方法:筛选MRI提示的皮质发育不良区域与重要功能区-感觉运动区位置关系密切的11例难治性癫痫患者,且头皮长程视频脑电监测及PET检查也初步提示癫痫发作与皮质发育不良所在脑区有关,在可疑脑区放置颅内电极,然后进行颅内电极长程视频脑电监测及电刺激检测,对癫痫起源位置及功能区定位,明确癫痫发作起源区域与感觉运动功能区的解剖学关系,在定位结果指导下进行切除术。结果:11例中3例位于左侧半球,8例位于右侧半球,11例感觉运动功能区皮质分布均存在不同程度变异,7例癫痫发作起源区域与感觉运动功能区一定范围重叠,其中5例与感觉区重叠,该5例切除了起源区域与发作有关的部分感觉区,2例部分致痫灶与运动区重叠,该2例仅切除了除与发作有关的运动区以外的癫痫起源区域,4例癫痫发作起源区域与感觉运动功能区相对独立,该4例完全切除癫痫发作起源区域;手术后6例患者发作消失,2例患者发作频率减少90%以上,1例癫痫发作控制无效,2例患者发生部分感觉缺失,但对生活无明显影响。结论:在皮质发育不良的癫痫患者中,有较高比例的病人伴有功能区皮层分布的变异,长程颅内电极监测及电刺激能够实现癫痫起源区域及功能区精确定位,明确功能区变异情况,对于指导病灶切除,避免损伤功能区皮质,减少术后并发症具有重要意义。     

颅内电极在感觉运动区皮质发育不良癫痫手术中的应用

目的：探讨长程颅内电极监测及电刺激方法,在感觉运动区皮质发育不良的难治性癫痫外科手术评估中的意义。方法：筛选MRI提示的皮质发育不良区域与重要功能区-感觉运动区位置关系密切的11例难治性癫痫患者,且头皮长程视频脑电监测及PET检查也初步提示癫痫发作与皮质发育不良所在脑区有关,在可疑脑区放置颅内电极,然后进行颅内电极长程视频脑电监测及电刺激检测,对癫痫起源位置及功能区定位,明确癫痫发作起源区域与感觉运动功能区的解剖学关系,在定位结果指导下进行切除术。结果：11例中3例位于左侧半球,8例位于右侧半球,11例感觉运动功能区皮质分布均存在不同程度变异,7例癫痫发作起源区域与感觉运动功能区一定范围重叠,其中5例与感觉区重叠,该5例切除了起源区域与发作有关的部分感觉区,2例部分致痫灶与运动区重叠,该2例仅切除了除与发作有关的运动区以外的癫痫起源区域,4例癫痫发作起源区域与感觉运动功能区相对独立,该4例完全切除癫痫发作起源区域;手术后6例患者发作消失,2例患者发作频率减少90%以上,1例癫痫发作控制无效,2例患者发生部分感觉缺失,但对生活无明显影响。结论：在皮质发育不良的癫痫患者中,有较高比例的病人伴有功能区皮层分布的变异,长程颅内电极监测及电刺激能够实现癫痫起源区域及功能区精确定位,明确功能区变异情况,对于指导病灶切除,避免损伤功能区皮质,减少术后并发症具有重要意义。     

Incidence of seizures and EEG abnormalities among offspring of epileptic patients

Summary The marriage rate of epileptic patients was 62% in males und 78% in females. Compared with the rates in the general population, the male patients had a 15% lower rate, but there was no difference in females. There were 263 patients with at least one offspring selected for the study. There were 243 sons and 272 daughters (506 total, 1.9 per patient). Distribution by types of seizure was awakening grand mal, absence or myoclonic petit mal in 24%, grand mal with no aura in 21%, grand mal during sleep in 23%, diffuse grand mal in 7%, grand mal with aura in 13%, psychomotor seizure in 9%, and focal seizure in 3%. The probands were composed of 79% idiopathic and 21% symptomatic in pathogenetic classification. An epileptic EEG abnormality was demonstrated in 22% of male and 44% of female probands.The incidence of seizures among offspring was 2.4% (4.2% age-corrected) in a narrow sense (epilepsy) and 9.1% in a broad sense including febrile convulsions. The latter morbidity was 11.0% for the idiopathic and 3.2% for the symptomatic group; 11.0% for female and 6.9% for male probands; 10.2% for sons and 8.1% for daughters. The figure was higher for the probands with the age range at onset of seizure of 0–4 years (20.6%) and 20–29 years (12.6%) than for those with other age ranges; higher for those with awakening grand mal, absence, myoclonic petit mal, or grand mal with no aura than for those with other types of seizure; and higher for those with family history of epilepsy than those without it.Possible correlation of types of seizure between probands and offspring was demonstrated. Thirty-seven percent of offspring exhibited epileptic EEG abnormalities, and the ratio of epileptic EEG abnormalities to clinical manifestation is about 4:1.Possible existence of familial aggregation of EEG abnormalities and of two kinds of families with large or small epileptic predisposition was indicated.The importance of the role of hereditary and environmental factors in epileptic pathogenesis is proved, and the results of an investigation of congenital malformation among offspring of epileptic mothers are presented. These results were considered to be useful for genetic counseling of epileptic patients.     

基于脑电信号的癫痫发作预测特征及识别

解码癫痫发作前脑电信号的神经元集群异常痫样放电活动,对癫痫发作进行有效预测并实施病前干预,可显著减少疾病病损,是癫痫防治的研究热点之一。基于脑电信号的癫痫发作预测研究关键在于发作间期和前期的异常状态识别,研究上述两状态间的神经动力学特征差异对明确癫痫发病机制、选取高分辨特征,进而有效识别该渐进性疾病所处的发作阶段具有重要价值。目前,研究者已对当前主流特征提取及模式识别方法进行了充分的调研梳理,但忽视了神经动态特征变化对于癫痫发作预测的重要意义。基于此,本文归纳总结了5类典型的发作预测特征分析方法及其优缺点,重点剖析了发作间期至前期神经生理特征的动态变化及其动力学特性,类比分析了当前该领域主流的机器学习和深度学习特征识别方法,以期为进一步建立精准、高效的癫痫发作预测技术提供新思路。     

Frequency of anticardiolipin, antinuclear and anti-beta2 glycoprotein I antibodies in children with epilepsy

A high prevalence of epilepsies in specific immunological diseases suggests that the immune system may play a role in the pathogenesis of epilepsy or might be associated with it. In this study the frequency of anticardiolipin antibodies (aCL), antinuclear antibodies (ANA) and anti-beta2-glycoprotein I antibodies (anti-beta2-GPI) in 40 children with epilepsy and in 38 healthy subjects was determined. Positive aCL was found in 3 patients, and anti-beta2-GPI in 1 patient. In control group they were negative. ANA antibodies were negative in both groups. Duration of epilepsy < 1 year was observed in all three patients with positive aCL. No statistically significant difference was found concerning the presence of these antibodies between patients and controls. There was no statistically significant correlation of age, sex, age at the onset of epilepsy, duration of epilepsy, type of epilepsy, seizure frequency or specific antiepileptic medications with the presence of any measured antibodies.     

结节性硬化症伴癫痫患儿临床特征和基因型分析

摘要 目的：探讨结节性硬化症（TSC）伴癫痫患儿的临床特征和基因型特点,旨在了解 TSC伴癫痫患儿的临床表现,以及表型与基因型的相关性,为临床诊治提供更有效的方案。方法：回顾性分析 2019年 12月至 2021年 1月安徽省儿童医院神经内科收治的 10例 TSC伴癫痫患儿的临床表现,采用芯片捕获高通量测序以及 Sanger测序验证,对 TSC伴癫痫患儿及父母进行基因检测,分析其临床及遗传变异的特征。结果：10例中男性 4例,女性 6例,首次发作痉挛 3例,局灶性 7例,70.00%首发年龄小于 1岁。临床表现：90.00%皮肤病变,80.00%心脏横纹肌瘤,20.00%眼底异常,未见肾脏、肝脏、肺脏病变。视频脑电图显示 60.00%痫样波位于额颞区,100.00%伴神经影像学皮层 /皮层下异常,90.00%双侧室管膜 /室管膜下异常,10.00%室管膜下巨细胞星形细胞瘤。研究患儿均完善基因检测,3例为 TSC1基因突变,7例为 TSC2突变,包括错义、移码及剪接位点突变,2例检测出家族变异,7例均未检测出家族变异。结论：TSC伴癫痫患儿男女发病无明显差异性,散发病例多见,发病年龄多为 1岁内,首次发作常为局灶性。视频脑电图痫样波额颞区为主,头颅影像学多为皮层 /皮层下及双侧室管膜 /室管膜下异常。TSC2突变较 TSC1突变常见,临床表现严重,痉挛发生率高,发病年龄小,多控制不佳。早期基因检测,对于发病年龄小,疗效欠佳患儿尤为重要。     

Enhanced Synaptic Vesicle Traffic in Hippocampus of Phenytoin-Resistant Kindled Rats

Aim: Intractable epilepsy is characterized of seizure resistance to the anti-epileptic drugs. The underlying mechanisms are still elusive. Alterations of synaptic vesicle traffic may be one of the candidate mechanisms. Methods: Phenytoin-resistant and phenytoin-non resistant epileptic rats were selected in the amygdala kindled adult male Wistar rats. Synaptotagmin-I and clathrin were determined by cDNA microarry analysis and Western blotting in the hippocampus of phenytoin-resistant and phenytoin-nonresistant kindled rats, which were associated with the exocytosis and endocytosis of the synaptic vesicle traffic. Results: Microarry analysis showed both synaptotagmin-I and clathrin mRNA were up-regulated at least 3.06 fold accompanied with their correspondent proteins increased by 52.3 ± 6.4 % and 76.7 ± 12.4 % respectively in the hippocampus of phenytoin-resistant rats as compared with those in phenytoin-nonresistant rats. There were no significant differences in plasma phenytoin concentrations between the two groups. Conclusions: The increased expressions of synaptotagmin-I and clathrin in the hippocampus of phenytoin-resistant kindled rats play a role in the development of intractable epilepsy.     

Analysis of Epileptic Discharges from Implanted Subdural Electrodes in Patients with Sturge-Weber Syndrome

ObjectiveAlmost two-thirds of patients with Sturge-Weber syndrome (SWS) have epilepsy, and half of them require surgery for it. However, it is well known that scalp electroencephalography (EEG) does not demonstrate unequivocal epileptic discharges in patients with SWS. Therefore, we analyzed interictal and ictal discharges from intracranial subdural EEG recordings in patients treated surgically for SWS to elucidate epileptogenicity in this disorder.MethodsFive intractable epileptic patients with SWS who were implanted with subdural electrodes for presurgical evaluation were enrolled in this study. We examined the following seizure parameters: seizure onset zone (SOZ), propagation speed of seizure discharges, and seizure duration by visual inspection. Additionally, power spectrogram analysis on some frequency bands at SOZ was performed from 60 s before the visually detected seizure onset using the EEG Complex Demodulation Method (CDM).ResultsWe obtained 21 seizures from five patients for evaluation, and all seizures initiated from the cortex under the leptomeningeal angioma. Most of the patients presented with motionless staring and respiratory distress as seizure symptoms. The average seizure propagation speed and duration were 3.1 ± 3.6 cm/min and 19.4 ± 33.6 min, respectively. Significant power spectrogram changes at the SOZ were detected at 10–30 Hz from 15 s before seizure onset, and at 30–80 Hz from 5 s before seizure onset.SignificanceIn patients with SWS, seizures initiate from the cortex under the leptomeningeal angioma, and seizure propagation is slow and persists for a longer period. CDM indicated beta to low gamma-ranged seizure discharges starting from shortly before the visually detected seizure onset. Our ECoG findings indicate that ischemia is a principal mechanism underlying ictogenesis and epileptogenesis in SWS.     

Social rhythm and other chronobiological findings in juvenile myoclonic epilepsy

We evaluated the correlation between chronobiological variables and characteristics of juvenile myoclonic epilepsy. Sample: 17 individuals epileptic outpatients and respective controls. Instruments: The Social Rhythm Metric for social zeitgebers, lux meter, and an ACT10^® thermistor for activity–rest rhythm, light exposure, and peripheral body temperature. Regularity scores showed an inverse correlation with age at disease onset (r = ?0.5; p < 0.05), but not with disease duration or stabilization time. A significant intergroup difference was recorded for mean diurnal peripheral temperature (p < 0.01) and activity amplitude (= 0.06). There was a correlation between activity and temperature means in both groups. These results underscore the relationship between epilepsy and the biological clock on a physiological level. Epilepsy, in turn, is influenced by the circadian rhythm, indicating the potential involvement of the body’s internal clock in the development of the disease or the seizure recurrence pattern.     

13例SCN2A 基因突变相关儿童神经系统疾病表型分析

摘要 目的：总结并分析SCN2A基因突变引起的儿童神经系统疾病相关表型谱特点。方法：采用回顾性研究,收集2018年6月至2021年6月在上海交通大学医学院附属上海儿童医学中心神经内科诊治的患儿,并经二代基因测序检测,纳入SCN2A基因突变者,研究并总结患儿神经系统临床表型特点。结果：共纳入13例SCN2A突变患儿,包括新生突变9例和遗传性突变4例。其中11例患儿伴有癫痫发作,发作年龄为1日龄~1岁11月龄,4例在新生儿期起病 （36%）,1~3 月龄起病2例（18%）,4~12月龄起病2例（18%）,1岁后起病3例（27%）;发作类型中强直阵挛发作、痉挛发作、局灶性发作均各有4例（36%）,阵挛发作1例（9%）。另有2例无癫痫发作的患儿,1例表现为全面性发育迟缓,另一例表现为发育迟缓合并孤独症谱系疾病。11例癫痫患儿中,丛集性发作患儿10例。遗传性突变4例患儿中2例智力、运动发育正常;9例新生突变的患儿中8例伴有运动、智力发育落后,1例发育正常。11例癫痫患儿表型中良性家族性新生儿癫痫1例,新生儿惊厥2例,婴儿痉挛症2例,不能分类的早发性癫痫性脑病3例,儿童期起病的癫痫性脑病2例,热厥附加症1例。结论：SCN2A基因突变引起的儿童神经系统疾病以癫痫表现居多、癫痫表型谱广,少数表现为不伴癫痫发作的发育迟缓和孤独症谱系疾病。