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一个患有新型进行性肌阵挛癫痫和认知障碍的家庭描述。

Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.

作者信息

Ferlazzo Edoardo, Italiano Domenico, An Isabelle, Calarese Tiziana, Laguitton Virginie, Bramanti Placido, Di Bella Paolo, Genton Pierre

机构信息

IRCCS Centro Neurolesi Bonino-Pulejo, Messina, Italy.

出版信息

Mov Disord. 2009 May 15;24(7):1016-22. doi: 10.1002/mds.22489.

Abstract

We report a family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. The diagnosis of Unverricht-Lundborg disease and all other known causes of progressive myoclonus epilepsies were excluded by specific laboratory tests and molecular analysis.

摘要

我们报告了一个来自阿尔及利亚的家族,该家族呈现出一种罕见的、严重的进行性肌阵挛癫痫形式,其特征为肌阵挛、全身强直阵挛发作以及中度至重度认知障碍,可能为常染色体隐性遗传。发病年龄在6至16岁之间。通过特定的实验室检查和分子分析排除了Unverricht-Lundborg病及所有其他已知的进行性肌阵挛癫痫病因。

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