癫癎猝死

癫癎患者发生突然而不能解释的死亡,即癫癎猝死(sudden unexplained and unexpected death in epilepsy,SUDEP),占 癫癎患者死亡原因2%～17%[1]。     

遗传基因变异与癫癎

<正>癫癎病因众多,国际抗癫癎联盟目前将其分为遗传性、结构性、代谢性、免疫性、感染性、原因不明等6类,其中在难治性癫癎患者中遗传性因素所致者占相当比例,以往认为是"隐源性"的患者,经过遗传学检测,病因获得率高达30%~([1-2])。癫癎相关遗传基因变异的研究促使癫癎病因分类进行改革,以促进临床更加重视对病因学的研究。癫癎相关遗传学病因研究,不仅对提高临床诊断层次,为遗传咨询、优生优育提供帮助,同时为     

癫癎与睡眠障碍

癫癎是一种常见的神经系统疾病,睡眠与癫癎发作的相互作用关系密切已被人们所认识[1].     

甘丙肽与癫癎

甘丙肽（galanin,GAL）是一种广泛分布在神经系统的神经肽,具有广泛的神经生物学功能。主要参与下丘脑神经内分泌调节,与摄食行为密切相关,对学习和记忆有明显抑制作用。海马中GAL免疫活性细胞极少,但海马接受大量来自隔区、蓝斑及下丘脑的GAL免疫活性纤维投射。海马内的GAI通过抑制海马CAI区锥体细胞的兴奋性突触后电位,抑制兴奋性氨基酸的释放,开放ATP依赖性K+通道而发挥其抗癫(?)作用。遗传诱导的GAL表达变化可调节海马的兴奋性从而决定癫(?)发作的倾向。     

癫癎分类和抗癫癎药物的合理应用

癫(癎)(epilepsy)是由多种病因引起的脑功能障碍综合征,是神经系统常见疾患之一.2005年国际抗癫(癎)联盟推荐的癫(癎)定义为:癫(癎)是一种脑部疾患,其特点是持续存在能产生癫(癎)发作的脑部持久性改变,并出现相应的神经生物学、认知、心理学以及社会学等方面的后果.     

儿童遗传性癫癎

癫疒间 的病因较复杂 ,约 40 %的病人与遗传有关 ,在儿童癫疒间 中甚至更高[1] 。近 10年 ,对癫疒间 遗传学的研究发现 ,几种原发性癫疒间是由离子通道改变所致 ,包括电压门控的钾、钠离子通道改变 (ｖｏｌｔａｇｅ ｇａｔｅｄ)。原发性全身性癫疒间 包括良性家族性新生儿惊厥、儿童失神癫疒间 、少年肌阵挛癫疒间 、全身性癫疒间伴热性惊厥附加症 ;原发性部分性癫疒间包括良性家族性婴幼儿惊厥、常染色体显性遗传夜间额叶癫疒间、儿童良性癫疒间 伴中央颞棘波 ;进行性肌阵挛癫疒间 大多与中枢神经系统异常或代谢异常有关 ,主要包括Ｕｎｖｅ…     

婴儿良性癫癎

婴儿良性癫痫是近年认识的一组新的癫痫综合征,包括全身性发作和部分性发作。其共同特点为婴儿期起病,发病前后精神运动发育正常,多数为短期内频繁成簇发作,发作间期脑电图正常,对抗癫痫药物反应良好,长期预后好。本文简要介绍各型婴儿良性癫痫的临床及脑电图特征。     

即刻早期基因与癫癎

即刻早期基因（ＩＥＧｓ）和编码的即刻早期蛋白组成的转录调控因子，通过信号级联放大，对细胞造成长期的功能改变，参与凋亡启动过程，并在癫癎的发生发展过程中起重要作用。通过对癫癎动物模型ＩＥＧｓ表达的研究，可以确定癫癎发作的脑区及播散情况。如能通过ＤＮＡ重组技术直接修复ＩＥＧｓ，则为癫癎的基因治疗奠定坚实的基础。     

热性惊厥与颞叶癫癎

热性惊厥 (FC)是否导致海马硬化和成年颞叶癫疒间(TLE) ,其预后是否良好尚无定论。尽管临床回顾性研究表明 30 %～ 5 0 %的TLE患者在儿童期有长程FC史 ,但前瞻性研究没有发现FC与TLE有直接关系。近年来应用磁共振成像和膜片箝等先进技术所取得的一系列新发现更加倾向于表明FC的确能对发育期大脑造成急性和长期的损伤 ,并降低惊厥阈值 ,使脑功能处于惊厥的易感状态。相信随着对边缘系统易感神经元早期轻微损伤的探讨和控制神经元功能的某些神经活性物质基因表达的深入研究 ,不仅会对长程FC致发育期大鼠成年后出现惊厥易感状态的分子和细胞机制提供新的有意义的线索 ,而且可能会使我们对FC的临床意义及预后有更进一步的认识。     

Mitochondrial diseases]

The authors describe the main characteristics of the mitochondria. These features are essential in order to understand the clinical phenotype and the biochemical and genetic abnormalities of mitochondrial cytopathies.     

Mitochondrial DNA mutations associated with neuromuscular diseases: analysis and diagnosis using the polymerase chain reaction

A number of neuromuscular diseases are associated with molecular defects in the mitochondrial DNA (mtDNA). These include: 1) a missense mutation at nucleotide 11778 in the mtDNA of Leber's hereditary optic neuropathy patients; 2) a heterogeneous array of deletions in the mtDNA of ocular myopathy patients; and 3) small deletions and point mutations in the mtDNA of myoclonic epilepsy and ragged red fiber disease patients. We can now diagnose these diseases at the molecular level from small patient samples by amplifying the affected mtDNA regions using the polymerase chain reaction. Leber's hereditary optic neuropathy is diagnosed through loss of an SfaNI restriction site. Ocular myopathy deletions are identified by differential amplification across deletion breakpoints. Familial diseases such as myoclonic epilepsy and ragged red fiber disease might be diagnosed by identifying small deletions through amplification and electrophoretic analysis of the entire mtDNA genome or by identifying point mutations through differential oligonucleotide hybridization. As additional mtDNA molecular defects are identified, molecular analysis will likely become a primary tool for the diagnosis of these diseases.     

Photosensitive epilepsy and television epilepsy]

Photosensitivity is defined by the appearance of occipital or more diffuse electroencephalographic spikes and waves induced by intermittent light stimulation (ILS), particular patterns, TV-watching, and video games. Photosensitivity is a genetic characteristic. Only the diffuse spikes and waves induced by ILS are correlated with epilepsy. Pure photogenic epilepsy is characterized by seizures which are only visually induced, usually by watching TV. Video games sometimes add a trigger effect due to slowly moving patterns or intense brightness. Several epileptic syndromes are associated with a photosensitivity with or without visually-induced seizures, mainly generalized idiopathic epilepsy.     

Mitochondrial myopathies and encephalomyopathies. Neuromuscular and central nervous system diseases caused by defects in mitochondrial oxidative metabolism

In this review the clinical data and biochemical findings of disorders of oxidative metabolism in the mitochondria are summarized. Defects in pyruvate metabolism, the citric acid circle, the respiratory chain and less well defined disorders of energy transfer are discussed.     

Mitochondrial diseases--causes and diagnosis

Increasing numbers of diseases due to disturbances in mitochondrial DNA (mtDNA) are being discovered. Mutations in mtDNA mainly cause malfunctioning of muscle and nerve cells. The most common diseases and their molecular diagnosis are briefly described.