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Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms

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Figshare2018-03-09 更新2026-04-29 收录
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Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical, etiological, and molecular-genetic factors preferentially predisposing to spasms. We compared ages, clinical etiologies, and associated-genes between spasms and non-spasms groups in a multicenter cohort of 509 infants (

婴儿痉挛症(Infantile spasms)是韦斯特综合征(West syndrome)的特征性发作类型,而韦斯特综合征是一种病理生理学机制尚不明确的重症早发性癫痫。本研究针对痉挛症患儿与其他发作类型患儿开展了一项新颖的对比分析,旨在明确可优先增加婴儿痉挛症发病风险的临床、病因学及分子遗传因素。本研究在纳入509名婴儿的多中心队列中,对比了痉挛症组与非痉挛症组患儿的年龄、临床病因及相关基因(

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2018-03-09
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