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[几名癫痫患儿的癫痫遗传情况]

[The epileptic heredity in several comitial children].

作者信息

Brimani D

出版信息

Encephale. 1976;2(2):177-86.

PMID:819244
Abstract

For most authors, hereditary epilepsy is restricted to a certain number of neuropsychiatric diseases liable to be transmitted and associated to epileptic seizures : such as the progressive epilepsy myoclonia of Ramsay-Hunt, or some neuroectodermoses (Bourneville's tuberous sclerosis). But those diseases are quite rare compared to the majority of the epileptic population we meet everyday. Yet it seems to us that there is a genetic predisposition in some patients suffering from epilepsy, generalized from the start, called idiopathic epilepsy (grand mal, petit mal, massive myoclonias), where no cerebral lesion can be found. For this research, we have undertaken the study of two families, one with three children, the other with two homozygous twins. All the children were suffering from clinical epilepsy. The altered state of the E.E.G. of the parents who do not have obvious apparent epileptic seizures, confirms the genetic role of certain idiopathic epilepsies. A study of bibliography accompanies the topic of this presentation.

摘要

对于大多数作者而言,遗传性癫痫仅限于某些易于遗传且与癫痫发作相关的神经精神疾病:比如拉姆齐-亨特进行性癫痫性肌阵挛,或某些神经外胚层疾病(如结节性硬化症)。但与我们每天接触的大多数癫痫患者相比,这些疾病相当罕见。然而在我们看来,某些从一开始就全身性发作的癫痫患者(称为特发性癫痫,如大发作、小发作、全身性肌阵挛)存在遗传易感性,且找不到脑部病变。为了这项研究,我们对两个家庭进行了研究,一个家庭有三个孩子,另一个家庭有一对同卵双胞胎。所有孩子都患有临床癫痫。没有明显癫痫发作的父母脑电图的异常状态,证实了某些特发性癫痫的遗传作用。本报告主题还附带了文献研究。

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1
[The epileptic heredity in several comitial children].[几名癫痫患儿的癫痫遗传情况]
Encephale. 1976;2(2):177-86.
2
[Progressive myoclonus epilepsy in two siblings and 5 cases with dyssynergia cerebellaris myoclonica in several generations of a kinship, a clinical and genetic study].[一对同胞中的进行性肌阵挛癫痫及一个家系几代人中的5例伴有肌阵挛性小脑协同失调的病例:一项临床与遗传学研究]
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[Ramsay-Hunt syndrome and aniridia in 2 monozygotic twins].[2 例单卵双胞胎中的拉姆齐-亨特综合征与无虹膜症]
Rev Neurol (Paris). 1975 Jan;131(1):43-8.
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[Classification of epilepsy].[癫痫的分类]
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Genetic animal models of epilepsy as a unique resource for the evaluation of anticonvulsant drugs. A review.癫痫的遗传动物模型作为评估抗惊厥药物的独特资源。综述。
Methods Find Exp Clin Pharmacol. 1984 Sep;6(9):531-47.
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FAME 3: a novel form of progressive myoclonus and epilepsy.FAME 3:一种新型进行性肌阵挛和癫痫形式。
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[Comparison between the informative value of electroencephalography and cranial computer tomography in childhood epileptic seizures].[脑电图与头颅计算机断层扫描在儿童癫痫发作中的信息价值比较]
Zh Nevropatol Psikhiatr Im S S Korsakova. 1983;83(6):815-9.
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Pattern-sensitive epilepsy: electroclinical characteristics, natural history, and delineation of the epileptic syndrome.模式敏感性癫痫:电临床特征、自然病史及癫痫综合征的界定
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[Myoclonic cerebellar dyssynergia (Ramsay-Hunt syndrome) and cerebellar telangiectasia].肌阵挛性小脑协同失调(拉姆齐-亨特综合征)与小脑毛细血管扩张症
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