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find Keyword "癫痫综合征" 11 results
  • 青少年肌阵挛癫痫基因的研究

    青少年肌阵挛癫痫(Juvenile myoclonic epilepsy, JME)是特发性癫痫中常见的癫痫综合征, 有明显的遗传和表型的异质性。遗传因素在JME发病中起重要作用, 随着JME相关基因不断被发现, JME在分子层面的发病机制也在不断进展, 基因型与表现型的关系也在进一步研究。目前发现的与青少年肌阵挛癫痫相关的基因有:CACNB4、GABRa1、GABRD、EFHC1、CASR、CPA6、BRD2、Cx-36、ME2。文章主要总结JME基因及其致病机制, 同时介绍基因型和表型关系的研究进展

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  • 局灶性皮质发育不良的病理机制

    局灶性皮质发育不良(Focal cortical dysplasias, FCDs)是儿童难治性癫痫的常见病因,也是常需癫痫手术的原因。尽管近年来在细胞和分子生物上的进展,FCDs的病理机制仍不清楚。该研究旨在回顾FCDs的分子机制,系统地检索FCDs组织、分子和电生理方面的文献,以明确可能的治疗靶点。哺乳动物雷帕霉素靶蛋白信号通路(mammalian target of rapamycin,mTOR)是一些FCDs结构和电生理紊乱的重要机制。其他的假说包括病毒感染、早产、头部外伤和脑肿瘤。mTOR抑制剂(如:雷帕霉素)在动物和少量FCDs患者的队列癫痫控制中取得阳性结果。近期研究在发育不良组织细胞的分子和电生理机制方面取得了令人鼓舞的进展。尽管mTOR抑制剂有良好的治疗前景,但仍需大规模的随机对照研究评估其有效性和不良反应,并且需要基础研究发现新的分子水平诊断和治疗方式。

    Release date:2016-11-28 01:27 Export PDF Favorites Scan
  • 儿童癫痫综合征遗传研究进展

    癫痫是一种多基因遗传的复杂疾病,其表型特征涉及多个基因序列和表达的改变,目前已明确与人类癫痫相关的基因有500多个,所涉及的癫痫种类众多,表型各异。新一代测序技术极大地增加了新的癫痫致病基因的发现速度,使临床能够确定越来越多患者的癫痫遗传病因,并更好地理解该疾病潜在的病理生理机制。儿童癫痫综合征具有特殊的临床及电生理特征,常具有明显的遗传背景,特定年龄段起病,因此在癫痫相关遗传研究中也有着最为丰硕的收获。文章就遗传性全面强直-阵挛发作性癫痫、全面性癫痫伴热性惊厥附加症、儿童失神癫痫、青少年肌阵挛癫痫等儿童癫痫综合征相关的致病基因,特别是电压门控离子通道的亚基,以及配体门控离子通道的亚基等最新研究进展进行总结。

    Release date:2017-09-26 05:09 Export PDF Favorites Scan
  • 出生后一年内癫痫综合征的发病率与预后:一项基于人群的回顾性研究

    基于人群的婴儿癫痫综合征研究尚不足。该研究的目的在于,从人群中一组出生后1年内起病的癫痫患儿中,提炼出有关综合征发病率及预后的数据。纳入1997年-2006年间住在赫尔辛基大学医院服务区域的所有12月龄内起病的癫痫患儿。通过查看所有患儿病历资料,根据医院的统计数据确认可否纳入研究。再对从患儿病历资料中总结出癫痫综合征、起病年龄、病因,以及在24个月龄时的结局进行了再评估。共158例婴儿达到了纳入标准,其中92%随访满24个月或死亡。出生后第1年的癫痫发病率为124/10万。根据国际抗癫痫联盟(ILAE)癫痫分类标准修正版,其中58%可被归类为某种癫痫综合征。最常见的癫痫综合征为West综合征(41/10万)和良性家族性或非家族性婴儿癫痫(22/10万)。35%的病因为结构-代谢性,17%为基因性,还有48%病因不明。起病早与结构-代谢性病因相关。有7例(4.4%)患儿在2岁以前死亡。1例有SCN2A基因突变的患儿死于癫痫猝死。研究显示良性家族性及非家族性婴儿癫痫比以往的估计更为高发,仅次于West综合征。起病早并不是预后差的独立危险因素。

    Release date:2017-09-26 05:09 Export PDF Favorites Scan
  • 癫痫的 ILAE 分类:ILAE 委员会关于分类和术语的意见书

    自从 1989 年国际抗癫痫联盟(ILAE)最后批准的分类以来,ILAE 已经更新了癫痫的分类,以反映我们在获得巨大科学进步后对癫痫及其基本机制理解方面的收获。作为执业医师的重要工具,在我们的思想中癫痫分类必须有恰当和动态的变化,并且应全面的翻译到全球所有地区。癫痫分类最初的目的是对患者进行诊断,但是对于癫痫研究、抗癫痫治疗的发展和全世界的交流也非常重要。这次新分类起源于 2013 年提交以供公开评论的一份草拟文件,该草拟文件在经过国际癫痫界几轮讨论广泛反馈后得以修订。此分类呈现了 3 个层次,首先是发作类型,假设患者已经有最新的 2017 年 ILAE 癫痫发作分类所确定的发作类型;诊断了发作类型后,下一步就是诊断癫痫类型,包括局灶性癫痫、全面性癫痫、全面性及局灶性癫痫两者兼有,以及分类不明的癫痫;第三层次是癫痫综合征,此处可以做出特定综合征的诊断。这一新分类在每一层次均包含了病因,强调在每一步诊断时都要考虑病因,因为病因将会对治疗产生重要影响。选择将病因分为 6 个亚组是基于其潜在的治疗因果关系。该分类引入了新的术语如“发育性和癫痫性脑病”等。“自限性”和“药物有效性”取代“良性”一词。希望这一新的框架将有助于提高 21 世纪癫痫的关爱和研究。

    Release date:2018-11-21 02:23 Export PDF Favorites Scan
  • 迷走神经刺激术治疗儿童药物难治性癫痫的研究进展

    癫痫患儿中约有 30% 为药物难治性癫痫,迷走神经刺激术(Vagus nerve stimulation,VNS)是药物难治性癫痫患儿无手术治疗指征时的一个选择。VNS 治疗癫痫的具体机制尚不明确,但长期大量的临床应用已证实其有效性和安全性,尤其是癫痫综合征,如 Lennox-Gastaut 综合征、Dravet 综合征,或难治性局灶性、多灶性癫痫均是很好的适应证。同时,临床应用 VNS 治疗难治性癫痫发现其对患儿的认知功能等方面亦有明显改善。文章从 VNS 治疗儿童药物难治性癫痫的发展史、参数设置、适应证、可能机制、临床应用,以及局限性和未来发展等方面进行综述,以期为相关临床应用提供一定参考。

    Release date:2020-01-09 08:49 Export PDF Favorites Scan
  • 新发难治性癫痫持续状态的诊治研究进展

    新发难治性癫痫持续状态(New-onset refractory status epilepticus,NORSE)是一种临床表现或综合征,不伴活动性癫痫或其他急性或慢性结构、代谢或中毒原因。发热感染相关癫痫综合征(Febrile infection-related epilepsy syndrome,FIRES)是 NORSE 起病时伴或不伴发热的一种 RSE 亚型。共识定义及其他情况包括婴儿偏身惊厥-偏瘫及癫痫综合征、超级 RSE 等。NORSE 的治疗是一件巨大的临床挑战和极低成功率。早期生酮饮食是最佳疗效和最具潜力的治疗。本文旨在阐明其临床特征、术语、流行病学、病理机制、诊断困局及治疗方法。

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  • 基层进修医生的儿童脑电图技能培训

    基层进修医生的成人脑电图培训模式日渐成熟,但儿童专科脑电培训模式仍待探索。该文章介绍了宣武医院进修医生在儿科进修的培养模式,每位进修医生在儿科轮转期间,以住院医的身份管理患者的同时,学习脑电图基础知识,采取临床病史+脑电相结合的方法,配合技师与上级医生讲课,以及术前评估和疑难病讨论,先理论-再实践-再回到理论,反复学习渗透。2个月的时间基本掌握儿科常见癫痫综合征以及相应脑电图的特征。患者+脑电图相结合的方法,可以较快的培训基层医生的儿童脑电图知识。本文以基层进修医生来我院进修的实践为基础,初步探索了儿科脑电图技能培训模式的可行性。

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  • Ketogenic diet in the treatment of 5 cases of febrile infection-related epilepsy syndrome and literature review

    ObjectiveAccording to the diagnosis and treatment analysis of 5 children with Febrile infection-related epilepsy syndrome (FIRES) and literature review, to explore the therapeutic effect of Ketogenic diet (KD).MethodsA retrospective analysis of the clinical status of 5 children with KD treatment of FIRES admitted to the Department of Pediatric Neurology, West China Second Hospital of Sichuan University from August 2016 to September 2019, combined with literature data, summarized their disease characteristics, prognosis and KD treatment effects.ResultsThe 5 cases of FIRES children were (5.8±2.0) years old and had a male to female ratio of 2∶3. They were all induced by fever followed by a status epilepticus that was difficult to control with drugs. The interval between fever and first seizure was 4 to 7 days, and the prodromal symptoms were higher respiratory tract infections, dizziness, vomiting, fatigue, listlessness, loss of appetite, etc., convulsions manifested as focal or focal secondary systemic or general seizures, EEG showed slowing background rhythm, changes in multifocal epileptic discharge, early course of disease The cranial imaging examination was basically normal. As the course of the disease progressed, changes in brain atrophy gradually appeared, and abnormal signal shadows were seen in the forehead, parietal, occipital lobe, and periventricular. A variety of anti-epileptic drugs, hormones, gamma globulin, plasma exchange and other treatments have poor therapeutic effects and severe cognitive impairment. The KD treatment started to take effect within 2 weeks, and the convulsions were reduced. One case was completely controlled, and the cognitive function basically returned to normal with only mild learning disabilities; the convulsions were reduced by more than 50% in 2 cases, leaving mild to moderate cognitive impairment, The other 2 cases had poor long-term treatment effects, left intractable seizures and severe mental retardation.ConclusionFIRES is a serious epileptic encephalopathy, most of which leave severe cognitive impairment and refractory seizures. Drug therapy and prognosis are poor. KD treatment is beneficial to control seizures in children with FIRES in the acute stage.

    Release date:2021-08-30 02:33 Export PDF Favorites Scan
  • Clinical analysis of 20 patients with electrical status epilepticus during sleep

    ObjectiveTo improve the clinicians’ understanding and treatment level of electrical status epilepticus during sleep by analyzing the clinical data of patients with ESES retrospectively.MethodsWe collected 20 cases from 2018 to 2019 diagnosed in our hospital by clinical and 24-hour video EEG confirmed and analyzed the clinical manifestations, EEG features, seizure type, classification of epilepsy syndrome as well as the imaging findings.ResultsAmong the 20 patients, there were 12 males and 8 females, the mean age was (10.96±2.68) years old, and the first onset age was (8.90±1.93) years old. Epilepsy seizure as the first symptom is most common, the EEG showed a broad or localized sustained discharge, generalized tonic clonic seizure is the main form of seizure type in most patients, ECSWS is the most prominent in the epilepsy syndrome, for small lesion through MR can be found early.ConclusionMost patients have partial or generalized seizures, which have a range of cognitive impairment, mental decline or other issues. It is important to improve the cognitive function, behavior, neuropsychology of patients by long term video EEG monitoring in the early stage.

    Release date:2021-10-25 01:58 Export PDF Favorites Scan
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