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The behavioral phenotype of the Angelman syndrome.

机译:Angelman综合征的行为表型。

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摘要

The Angelman syndrome is clinically delineated by the combination of seizures, absent speech, hypermotoric and ataxic movements and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other ones involving severe developmental handicap. In this review the core neurological features of the syndrome are discussed with a focus on those behaviors that make Angelman syndrome a prototypical genetic disorder expressing a behavioral phenotype.
机译:癫痫发作,言语缺失,运动过度和共济失调运动以及某些显着行为的结合在临床上描述了安格曼综合症。患有该综合征的人容易产生明显的幸福感和笑声,这一发现有助于将Angelman综合征与其他严重发展障碍的人区分开。在这篇综述中,讨论了该综合征的核心神经系统特征,重点关注那些使Angelman综合征成为表达行为表型的典型遗传疾病的行为。

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