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儿童癫痫的遗传学与遗传咨询(作者译)

[Genetics and genetic counselling in childhood epilepsy (author's transl)].

作者信息

Doose H

出版信息

Monatsschr Kinderheilkd (1902). 1978 Aug;126(8):487-91.

PMID:683199
Abstract

According to electroencephalographical studies on the pathogenesis of epilepsy a hereditary predisposition plays a greater role than believed before. It is far more frequent than the manifest disease. The phenomenon of cerebral excitability is influenced by different genetically determined, differently age- and sexdependent but amongst each other independent factors. When defining the risk of epilepsy for siblings and descendents in practice, one is forced to proceed from the statistical empirical value with all its uncertainty. During the past few years, the figures have become more exact for special types of epilepsy as absence-epilepsy, myoclonic astatic Petit mal, and Impulsiv-Petit mal. Details of these results and their consequences for genetic advice are discussed.

摘要

根据关于癫痫发病机制的脑电图研究,遗传易感性所起的作用比以往认为的更大。它远比显性疾病更为常见。大脑兴奋性现象受不同的遗传决定因素、不同的年龄和性别相关因素影响,但这些因素相互独立。在实际确定兄弟姐妹和后代患癫痫的风险时,人们不得不依据具有不确定性的统计经验值。在过去几年里,对于某些特殊类型的癫痫,如失神癫痫、肌阵挛失张力小发作和冲动性小发作,相关数据变得更加精确。文中讨论了这些结果的细节及其对遗传咨询的影响。

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1
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Monatsschr Kinderheilkd (1902). 1978 Aug;126(8):487-91.
2
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