Clinical efficacy of Baijin pills in the treatment of generalized tonicclonic seizure epilepsy with cognitive impairment

BACKGROUND The generalized tonic-clonic seizure(GTCS)is the most usual variety of epileptic seizure.It is mainly characterized by strong body muscle rigidity,loss of consciousness,a disorder of plant neurofunction,and significant damage to cognitive function.The effect of antiepileptic drugs on cognition should also be considered.At present,there is no effective treatment for patients with epilepsy,but traditional Chinese medicine has shown a significant effect on chronic disease with fewer harmful side effects and should,therefore,be considered for the therapy means of epilepsy with cognitive dysfunction.AIM To investigate the clinical efficacy of Baijin pills for treating GTCS patients with cognitive impairment.METHODS This prospective study enrolled patients diagnosed with GTCS between January 2020 and December 2023 and separate them into two groups(experimental and control)using random number table method.The control group was treated with sodium valproate,and the experimental group was Baijin pills and sodium valproate for three months.The frequency and duration of each seizure,the Montreal Cognitive Assessment Scale(MoCA),and the Quality of Life Rating Scale(QOLIE-31)were recorded before and after treatment.RESULTS There were 85 patients included(42 in the control group and 43 in the experimental group).After treatment,the seizure frequency in the experimental group was significantly reduced(P<0.05),and seizure duration was shortened(P<0.01).The total MoCA score in the experimental group significantly increased compared to before treatment(P<0.01),and the sub-item scores,except naming and abstract generalization ability,significantly increased(P<0.05),whereas the total MoCA score in the control group significantly decreased after treatment(P<0.05).The QOLIE-31 score of the experimental group increased significantly after treatment compared to before treatment(P<0.01).CONCLUSION Baijin pills have a good clinical effect on epilepsy with cognitive dysfunction.

Oxcarbazepine oral suspension in pediatric patients with partial seizures and/or generalized tonic-clonic seizures: a multi-center, single arm, observational study in China

Background:To assess efficacy and safety of oxcarbazepine (OXC) oral suspension in pediatric patients aged 2-16 years with partial seizures (PS) and/or generalized tonic-clonic seizures (GTCS) in real-world clinical practice in China.Methods:This 26-week,single arm,multicenter and observational study recruited patients aged 2-16 years with PS or GTCS suitable for OXC oral suspension treatment.Enrolled patients received OXC oral suspension treatment for 26 weeks.Primary endpoints included mean seizure frequency at the end of the treatment and mean seizure frequency reduction at the end of the treatment vs.baseline.Secondary efficacy-related endpoints and safety parameters were also assessed.Results:Nine hundred and eighty-seven pediatric patients were enrolled and 912 (92.4%) completed the study.The mean seizure frequencies at baseline and the end of week 26 were 13.40±64.92 and 1.62±19.47 times/month,respectively.The mean seizure frequency reduction was 10.03±63.67 times/month and the mean seizure frequency reduction percentage was 90.02%±5127.0% (P<0.0001).After 26 weeks of treatment,82.36%,7.24% and 3.86% of the patients became controlled,significantly improved and improved,respectively.Adverse events (AEs) were reported in 74 (7.65%) patients.Rash was the most common AE.The efficacy of OXC was not affected by seizure types,age or gender.Conclusion:This study confirms the efficacy and good safety profile of OXC oral suspension in Chinese pediatric patients aged 2-16 years with PS and/or GTCS.

Oxcarbazepine oral suspension in young pediatric patients with partial seizures and/or generalized tonic-clonic seizures in routine clinical practice in China: a prospective observational study

Background This study aimed to assess efficacy and safety of oxcarbazepine (OXC) oral suspension in pediatric patients aged 2-5 years with partial seizures (PS) and/or generalized tonic-clonic seizures (GTCS) in real-world clinical practice in China. Methods This 26-week, prospective, single-arm, multicenter, observational study recruited pediatric patients aged 2-5 years with PS or GTCS suitable for OXC oral suspension treatment based on physicians' judgments from 11 medical centers in China. Enrolled subjects started OXC oral suspension treatment as monotherapy or in combination with other antiepileptic drugs. Primary efficacy outcome was the percentage of pediatric subjects achieving ≥ 50% seizure frequency reduction at the end of the 26-week treatment. Secondary efficacy-related parameters and safety parameters such as adverse events (AEs) and serious AEs (SAEs) were also monitored during the 26-week treatment period. Results Six hundred and six pediatric patients were enrolled and 531 (87.6%) completed the study. After 26 weeks of treat-ment, 93.3% subjects achieved ≥ 50% seizure frequency reduction, and 81.8% achieved 100% seizure frequency reduction compared to baseline. Among diff erent seizure types, OXC was eff ective in all subjects with simple PS and in > 90% of subject with other type of seizure present in the study. AEs were observed in 49 (8.1%) subjects. Only three subjects expe-rienced SAE. Rash (n = 18, 2.97%) was the most common AE. Only 17 subjects discontinued due to AEs. Conclusion This study, reporting the real-world data, further confi rms the efficacy and good safety profi le of OXC oral suspension in Chinese pediatric patients aged 2-5 years with PS and/or GTCS.

Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a Southern Chinese Han population

This study sought to analyze the genotype and gene mutations of human seizure-related gene 6 in 98 patients with idiopathic generalized epilepsy （non-febrile seizures）, who were selected from three generations of the Chinese Han population living in Shanghai, Zhejiang Province, Wuxi of Jiangsu Province, and Jiangxi Province of Southern China. Twenty-six patients＇ parents were available as a first-degree relatives group and 100 biologically unrelated healthy controls were collected as the control group. Based on the age of onset and seizure type, the patients were divided into six subgroups. Polymerase chain reaction and DNA direct sequencing analysis showed that the most frequent mutations c. 1249dupC （p.Gly418Argfx31 ） and c.1636A 〉 G （p.Thr546Ala） were detected in some idiopathic generalized epilepsy patients and tl^eir asymptomatic first-degree relatives （30.6% vs. 19.2% and 11.2% vs. 26.9%）. A novel mutation c.1807G 〉A （p.Val603Met） was found in a patient with late-onset idiopathic generalized epilepsy. There was no significant difference in the incidence of these three mutations among the different subgroups of idiopathic generalized epilepsy and controls. Thus, further analysis of a larger population is needed to confirm the assumption that human seizure-related gene 6 is a susceptibility gene for idiopathic generalized epilepsy with various sub-syndromes.

KCNQ钾离子通道开放剂的筛选及抗癫痫活性观察

目的筛选KCNQ通道开放活性化合物并进一步评价其抗癫痫作用。方法利用铷流出高通量筛选技术初筛,对优选化合物QO-72,复制多个动物模型,通过行为学以及脑电图(EEG)分析,结合一般药理学实验,对其有效性安全性进行初步评价,并探讨作用机制。结果得到3个系列活性化合物共51个。化合物QO-72在MES和PTZ急性实验中,灌胃和腹腔注射可明显提高抗惊厥保护率(P<0.05,0.01),延长癫痫大发作阈值(P<0.01)。在PTZ点燃慢性癫痫模型中,QO-72腹腔注射不同剂量均可降低癫痫发作等级(P<0.01),缩短癫痫发作持续时间(P<0.01),大剂量明显提高发作保护率(P<0.01);QO-72治疗组EEG癫痫波时程明显缩短、振幅明显降低、波功率谱密度明显下降(P<0.05,0.01)。QO-72灌胃给药治疗剂量16倍或腹腔注射8倍,对小鼠协调运动、自主活动、戊巴比妥钠协同睡眠无明显影响。QO-72给药组海马区脑脊液GABA含量可明显增加(P<0.01),Glu没有明显变化(P>0.05)。结论化合物QO-72在电刺激和化学诱导的急、慢性癫痫模型上,均表现出良好抗癫痫作用,其机制除开放KCNQ通道外,可能还与增加脑内抑制性神经递质GABA含量有关。

原发全面强直阵挛型癫痫合并睡眠障碍患者的脑血流灌注特点

目的研究原发全面强直阵挛型癫痫(idiopathic generalized epilepsy with generalized tonic-colonic seizure,IGE-GTCS)合并睡眠障碍患者及未合并睡眠障碍IGE-GTCS患者的脑血流灌注特点。方法收集2021年12月至2022年12月就诊于宁夏医科大学总医院神经内科癫痫门诊并诊断为IGE-GTCS患者62例。根据有无睡眠障碍将患者分为IGE-GTCS合并睡眠障碍组和IGE-GTCS未合并睡眠障碍组。另收集年龄、性别、受教育程度与病例组相匹配、接受颅脑CT或磁共振检查的体检者及其他无神经系统疾病患者16名纳入对照组。采用手动勾画方法检测3组受试者脑部不同部位感兴趣区(region of interest,ROI)的脑血流量(cerebral blood flow,CBF)差异。结果IGE-GTCS合并睡眠障碍组、未合并睡眠障碍组及对照组左侧额叶、左侧丘脑及左侧海马结构CBF比较差异有统计学意义(均P<0.05)。两两比较结果显示,与对照组比较,IGE-GTCS合并睡眠障碍组左侧额叶、左侧丘脑及左侧海马ROI CBF降低(均P<0.05),未合并睡眠障碍组左侧额叶、左侧丘脑ROI CBF降低(均P<0.05);与IGE-GTCS未合并睡眠障碍组比较,合并睡眠障碍组左侧海马结构ROI CBF减少(P<0.05)。结论IGE-GTCS合并睡眠障碍患者及未合并睡眠障碍患者CBF异常存在差异,这将有助于进一步从脑功能角度理解IGE-GTCS合并睡眠障碍的病理生理机制。

托吡酯联合拉莫三嗪治疗癫痫全身强直-阵挛性发作患者的效果

目的:观察托吡酯联合拉莫三嗪治疗癫痫全身强直-阵挛性发作患者的效果。方法:选取2021年4月至2023年1月商丘市第三人民医院收治的80例癫痫全身强直-阵挛性发作患者进行前瞻性研究,按照随机数字表法将其分为对照组和观察组各40例。对照组予以拉莫三嗪治疗,观察组在对照组基础上联合托吡酯治疗,两组均连续治疗3个月。比较两组临床疗效,治疗前后认知功能[蒙特利尔认知评估量表(MoCA)]评分、神经损伤指标[神经元特异性烯醇化酶(NSE)、中枢神经特异性蛋白(S100β)、胶质纤维酸性蛋白(GFAP)、脑源性神经营养因子(BDNF)]水平,以及不良反应发生率。结果:观察组治疗总有效率为92.50%(37/40),高于对照组的75.00%(30/40),差异有统计学意义(P<0.05);治疗后,观察组MoCA评分高于对照组,差异有统计学意义(P<0.05);治疗后,观察组NSE、S100β、GFAP水平均低于对照组,BDNF水平高于对照组,差异有统计学意义(P<0.05);两组不良反应发生率比较,差异无统计学意义(P>0.05)。结论:托吡酯联合拉莫三嗪治疗癫痫全身强直-阵挛性发作患者可提高治疗总有效率和认知功能评分,改善神经损伤指标水平,效果优于单纯拉莫三嗪治疗。

癫痫患儿胼胝体全段切开手术的疗效分析

目的探讨癫痫患儿胼胝体全段切开手术的疗效及安全性。方法选取上海徳济医院癫痫中心2017年6月至2022年8月收治的24例癫痫患儿,所有患儿均接受了胼胝体全段切开手术治疗。收集患儿的临床基线资料,并进行预后评估。结果纳入本研究的患儿年龄2~13岁,平均6.2岁,其中全面性癫痫发作7例,失张力及跌倒发作17例。术后随访5年、平均随访时间2.8年,术后发作频率减少≥50%16例,发作频率减少<50%或加重5例,余3例术后随访数据缺失。术后发作结果以Engel评分进行分级,其中EengelⅠ级7例,EengelⅡ级3例,EengelⅢ级6例,EengelⅣ级5例。术后有13例患儿的智力及生长发育明显进步,主要为术后发作频率减少≥50%的患儿,其中以语言和肢体活动改善多见。24例患儿中,严重并发症为术后出现脑梗死并行去骨瓣减压1例,硬膜下积液并行钻孔引流1例。所有患儿均无颅内感染、术后脑积水及脑出血发生。结论胼胝体全段切开术对全面性发作、失张力发作及跌倒发作的患儿有较好的疗效,较单纯行胼胝体部分切开的患儿有效率高,且并发症发生率无明显增加,术后能够很大程度地促进患儿的生长发育及智力的提高。药物难治性癫痫患儿越早进行手术并发症发生率越低,且手术效果较年龄大的患儿更好。

Altered relationship between thickness and intrinsic activity amplitude in generalized tonic–clonic seizures

A thinner cortex has higher potential for binding GABA receptor A which is associated with larger amplitudes of intrinsic brain activity(i BA). However, the relationship between cortical thickness and i BA is unknown in intact and epileptic brains. To this end, we investigated the relationship between cortical thickness measured by highresolution MRI and surface-based i BA derived from resting-state functional MRI in normal controls(n = 82) andpatients with generalized tonic–clonic seizures(GTCS)only(n = 82). We demonstrated that the spatial distribution of cortical thickness negatively correlated with surface-based i BA amplitude at both whole-brain and within independent brain functional networks. In GTCS patients,spatial coupling between thickness and i BA amplitude decreased in the default mode, dorsal attention, and somatomotor networks. In addition, the vertex-wise acrosssubject thickness–i BA amplitude correspondence altered in the frontal and temporal lobes as well as in the precuneus in GTCS patients. The relationship between these two modalities can serve as a brain-based marker for detecting epileptogenic changes.

基于“百病皆为痰作祟”理论探讨祛风导痰汤治疗续发性全身强直-阵挛性发作癫痫患者临床观察

目的 基于“百病皆为痰作祟”理论探讨祛风导痰汤对续发性全身强直-阵挛性发作癫痫患者的临床疗效。方法 选取2018年1月—2020年3月续发性全身强直-阵挛性发作癫痫患者92例,随机分两组,对照组采用电子生物反馈技术;联合组采用基于“百病皆为痰作祟”理论的祛风导痰汤联合电子生物反馈技术,持续3个月。治疗后评价患者临床疗效、癫痫生活质量评定量表(quality of life rating scale for patients with epilepsy, QOLIE-31)、连线测验A-B、数字符号转换测验(digital symbol conversion test, DSST)、词语流畅性测验(verbal fluency test, VFT)、数字广度测验(digit span test, DST)等,比较两组不良反应。结果 对照组的有效率78.26%(36/46)低于联合组93.48%(43/46),有统计学意义(P<0.05)。对照组治疗3个月综合质量、情绪、总体健康、药物影响、认知功能、社会功能、精力、对发作担忧评分均低于联合组,有统计学意义(P<0.05)。对照组治疗3个月连线测验A、连线测验B高于联合组,DSST评分、VFT评分、DST评分低于联合组,有统计学意义(P<0.05)。对照组总不良反应率23.91%(11/46)与联合组28.26%(13/46)比较,无统计学意义(P>0.05)。结论 基于“百病皆为痰作祟”理论的祛风导痰汤对续发性全身强直-阵挛性发作癫痫患者的临床疗效显著,可以改善认知功能,从而提高生活质量。

结合连续小波变换与生成对抗网络的癫痫发作预测

目前半监督深度学习模型已成功用于脑电信号(EEG)的癫痫发作预测,但该模型在EEG预处理方式与半监督模型稳定性等方面还有提升空间。本研究提出一种结合连续小波变换(CWT)与基于梯度惩罚的Wasserstein生成对抗网络(WGAN-GP)的改进方法(CWT-WGAN-GP)。首先对未标记的EEG信号进行CWT获得时频图,并结合特定患者的EEG数据集训练WGAN-GP模型,生成高性能的特征提取器;其次,以经过训练的WGAN-GP的判别器为特征提取器、两个全连接网络层为分类器(预测器),用少量有标记的EEG信号CWT时频图完成分类模型训练;最后,WGAN-GP的判别器与稳定的全连接网络组成半监督深度学习预测模型,用于癫痫发作预测。用CHBMIT头皮脑电数据集中所筛选的13例患者数据,评估改进的半监督癫痫发作预测模型,并与现有半监督方法相比。该方法在灵敏度、特异性、准确率和AUC指标上分别达到82.69%,67.48%,82.08%和84.03%,将原有的性能指标分别提升14.48%,34.45%,7.87%和11.4%;CWT-WGAN-GP的预测性能与现有方法的差异具有统计学意义(P<0.05)。CWT与WGAN-GP模型相结合能有效地改善半监督深度学习模型预测性能,在癫痫发作预测中发挥无监督特征提取的优化作用。

癫痫发作预测模型:斯托克韦尔变换的生成对抗与长短时记忆网络半监督方法

目的提出一种半监督癫痫发作预测模型(ST-WGAN-GP-Bi-LSTM预测模型),从脑电(EEG)信号的时频分析、无监督特征模型稳定性以及后端分类器设计三个方面提升发作预测性能。方法对癫痫EEG信号进行斯托克韦尔变换(ST变换)得到时频输入,通过自适应调节分辨率和保留绝对相位,定位癫痫EEG信号的时频成分;当生成数据分布和真实EEG数据分布无重叠时,为了避免JS散度均为常数而导致特征学习失效的问题,采用Wasserstein生成对抗网络作为特征学习模型,以EM距离结合梯度惩罚策略(WGAN-GP)引导的代价函数,约束模型的无监督训练过程,进而生成高阶特征提取器;构建基于双向长短时记忆网络(Bi-LSTM)的时序预测模型,在获取高阶EEG时频特征间时序相关性基础上提升癫痫分类(预测)性能。利用公开数据集CHB-MIT头皮脑电数据集对本文提出的ST-WGAN-GP-Bi-LSTM预测模型进行评估。结果本文的ST-WGAN-GP-BiLSTM预测模型在AUC、灵敏度和特异性指标上分别达到90.40%,83.62%和86.69%。与现有半监督方法相比,将原有的性能指标分别提升17.77%,15.41%和53.66%,并与基于CNN的有监督预测模型性能持平。结论本方法有效地改善半监督深度学习模型预测性能,在癫痫发作预测中发挥无监督特征提取的优化作用。

伴有癫痫发作的歌舞伎综合征一例

本文报道了一例主要表现为不明原因反复全面性癫痫发作的歌舞伎综合征患者,经基因检测发现KMT2D基因突变为患者的新生变异,变异位点国际上暂未见报道。本文旨在为原因不明的癫痫患者提供更多的诊治思路。

加味清心汤联合左乙拉西坦治疗成人癫痫全面强直-阵挛性发作气血两虚证的疗效及对患者脑电图痫性活动的影响

目的:观察加味清心汤联合左乙拉西坦治疗成人癫痫全面强直-阵挛性发作(GTCS)气血两虚证的疗效及对患者脑电图痫性活动的影响。方法:纳入116例成人癫痫GTCS气血两虚证患者,采用随机数字表法分为对照组和治疗组各58例。对照组患者给予左乙拉西坦治疗,治疗组患者加用加味清心汤治疗。比较两组GTCS患者发作情况、简易精神状态检查量表(MMSE)评分、脑电图情况、血清相关因子及中医证候积分,并统计两组GTCS患者疗效、不良反应。结果:治疗组总有效率为91.38%(53/58),对照组总有效率为77.59%(45/58),治疗组优于对照组(P<0.05)。两组患者治疗后MMSE评分、血清SOD均高于治疗前,每月发作频率、发作持续时间、中医证候积分均低于治疗前,差异均有统计学意义(P<0.05);治疗组患者治疗后MMSE评分、血清SOD均高于对照组,每月发作频率、发作持续时间、中医证候积分均低于对照组,差异均有统计学意义(P<0.05)。两组患者治疗后脑电图痫样放电、累及导联数均低于治疗前,差异均有统计学意义(P<0.05);治疗组患者治疗后脑电图痫样放电、累及导联数均低于对照组,差异均有统计学意义(P<0.05)。两组不良反应比较,差异无统计学意义(P>0.05)。结论:加味清心汤联合左乙拉西坦治疗成人癫痫GTCS气血两虚证有较好疗效,可调节血清SOD的表达,减轻脑电图痫性活动。

10个全面性癫痫伴热性惊厥附加症家系的SCN1A基因突变筛查研究

目的分析全面性癫痫伴热性惊厥附加症（GEFS＋）家系的临床表型并筛查SCN1A基因突变情况。方法收集先证者及其家系成员临床资料及外周血DNA,对家系受累者临床表型进行分析,并采用DNA直接测序法进行SCN1A基因突变筛查。结果在10个GEFS＋家系中,共有33例受累者,每个家系中有2～7例受累者。受累者临床表型包括热性惊厥（FS）11例（33.3%）,热性惊厥附加症（FS＋）11例（33.3%）,FS伴部分性发作1例（3.0%）,无热全面强直阵挛发作（AGTCS）3例（9.1%）,Dravet综合征1例（3.0%）,儿童失神癫痫1例（3.0%）,发作分类不能明确5例（15.2%）。10个GEFS＋家系中发现3个家系有SCN1A基因突变,其中1个家系发现1个错义突变（glu1444lys）,2个家系发现同义突变：第15外显子同义突变（c.2592G〉A）;第9外显子（c.1212G〉A）与26外显子（c.5385 G〉A）突变。结论本研究在3个家系中的SCN1A基因编码区中发现1个新的错义突变和3个同义突变,其中1个家系先证者两外显子同时存在突变情况。GEFS＋家系遗传机制复杂,病因学有待进一步研究。

黄芩苷对戊四氮诱发的小鼠惊厥模型的保护作用

[目的]评估黄芩苷对戊四氮诱发的小鼠惊厥模型有无保护作用。[方法]给予昆明小鼠皮下注射100 mg/kg戊四氮诱发癫痫模型,观察黄芩苷的抗惊厥作用。[结果]黄芩苷在50 mg/kg及100 mg/kg均有不同程度的抗惊厥作用,对小鼠戊四氮诱发癫痫的发作潜伏期,发作严重程度,发作持续时间,死亡率等均有不同程度的保护作用,以100 mg/kg剂量为优。[结论]黄芩苷对小鼠戊四氮诱发的惊厥模型有保护作用,它有可能作为一种预防和治疗癫痫以及癫痫引起的脑损害的辅助用药,值得进一步研究。

全面性癫伴热性惊厥附加症6家系SCN1B基因突变筛查

目的探讨全面性癫伴热性惊厥附加症家系SCN1B基因突变情况。方法共收集GEFS+家系6个,采集40份外周血,并取健康对照组外周血50份。提取基因组DNA,设计7对引物,进行聚合酶链反应(PCR)扩增,琼脂糖凝胶电泳,选取符合条件的PCR产物进行聚丙烯酰胺凝胶电泳,进行单链构象多态性分析,对个别PCR产物进行双向测序。结果6个先证者和50名健康对照进行SCN1B的5对外显子筛选时,均未发现异常带出现。6个先证者的PCR产物测序结果与基因组序列相比对,也未发现碱基改变。结论全面性癫伴热性惊厥附加症是一种复杂综合征,本组家系中未发现SCN1B基因突变,GEFS+具有遗传异质性。

全面性癫癎伴热性惊厥附加症一家系随访分析

目的 探讨全面性癫伴热性惊厥附加症 (GEFS+ )的临床意义。方法 回顾性分析GEFS+ 一家系的临床发作情况 ,作详细的体格检查。进行脑电图、2 4h动态脑电监测 ,部分患者作头颅CT检查。结果 先证者Ⅳ12 ,以抽搐频发 3d入院 ,生后 8个月开始高热惊厥 (FS)。此次发作为无热性频发全面性强直 阵挛发作。该家系 5代共 36人 ,其中有 14名患者 ,男 8例 ,女 6例 ;患者年龄 4岁 5个月～ 82岁 ,除Ⅰ2 发作类型不详外 ,Ⅱ2 、Ⅲ1、Ⅲ4、Ⅲ6、Ⅳ1、Ⅳ11、Ⅳ17为FS ,Ⅳ2 、Ⅳ12 、Ⅳ13 、Ⅳ14 为FS+ ,Ⅴ1为FS+ 和失神发作。除Ⅳ13 、Ⅳ14 目前给予丙戊酸镁治疗外 ,其他患者已减量停药或未用药 ,均无发作。全家系成员智能发育、全身及神经系统检查均正常。 3例行头颅CT检查 ,均正常。结论 GEFS+ 为常染色体显性遗传性疾病 ,具有显著的遗传异质性和表型异质性。

全面性癫癎伴热性惊厥附加症家系的临床分析

目的探讨全面性癫癎伴热性惊厥附加症(GEFS+)的临床表型及遗传规律。方法首先对15个GEFS+家系的先证者进行详细的问诊及体格检查,建立完善的家系图谱,部分患者行EEG、头颅CT或MRI检查,按照国际分类法对癫癎发作和癫癎综合征进行分类,然后进行临床分析。结果15个家系共196名成员,75例患有癫癎,其中64例表型与GEFS+一致(1例去世),男性38例,女性26例,性别差异无显著性(P>0.05)。发作起始年龄均在儿童期。表现为热性惊厥(FS)者44例,FS伴肌阵挛1例,热性惊厥附加症(FS+)者13例,FS+伴失神发作2例,FS+伴肌阵挛1例,FS+伴局灶性发作3例。结论GEFS+具有表型异质性和遗传异质性,常见表型为FS和FS+,少见的表型为FS+伴失神发作、FS+伴肌阵挛发作、FS+伴局灶性发作等。GEFS+家系中父母一方患病,男女发病机率均等,符合常染色体显性遗传。

穴位埋线治疗全面性发作型癫痫临床观察

目的:寻找治疗全面性发作型癫痫的有效方法。方法:将100例患者随机分为两组,治疗组50例,给予穴位埋线,穴取大椎、筋缩、丰隆等;对照组50例,给予丙戊酸钠口服。结果:两组治疗后癫痫计分均较治疗前有明显改善(P<0·05);总有效率比较,治疗组为94·0%,对照组为82·0%,经统计学分析,两者差异有显著性意义(P<0·05)。结论:穴位埋线疗法治疗全面性发作型癫痫疗效肯定,无副作用。