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作为癫痫遗传模型的小鼠突变体综述。

A review of mouse mutants as genetic models of epilepsy.

作者信息

Seyfried T N, Glaser G H

出版信息

Epilepsia. 1985 Mar-Apr;26(2):143-50. doi: 10.1111/j.1528-1157.1985.tb05398.x.

Abstract

Here we review the major inherited convulsive disorders found in mice and discuss their possible relationship to specific clinical seizure disorders in humans. These mouse disorders include audiogenic seizures, the epilepsy (El) mutation, spontaneous seizures, the tottering/learner syndrome, cerebellar abnormalities, myelin disorders, and alcohol withdrawal seizures. Some of these disorders are symptomatic and others are idiopathic. We find that for many major types of epilepsy in humans there exists a similar counterpart in mice. Because the genetic constitution of the mouse is better known and more easily manipulated that that of other mammalian species, the mouse may serve as an excellent animal model for genetic and biochemical studies of epilepsy.

摘要

在此,我们回顾了在小鼠中发现的主要遗传性惊厥性疾病,并讨论了它们与人类特定临床癫痫发作疾病之间可能存在的关系。这些小鼠疾病包括听源性惊厥、癫痫(El)突变、自发性惊厥、蹒跚/学习者综合征、小脑异常、髓鞘疾病和酒精戒断性惊厥。其中一些疾病是症状性的,而其他一些是特发性的。我们发现,人类许多主要类型的癫痫在小鼠中都有类似的对应物。由于小鼠的基因构成比其他哺乳动物物种更清楚且更容易操纵,因此小鼠可作为癫痫遗传和生化研究的优秀动物模型。

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