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Angelman's syndrome in the first year of life.

作者信息

Van Lierde A, Atza M G, Giardino D, Viani F

机构信息

Centro di Epilettologia Infantile, Università di Milano, Italy.

出版信息

Dev Med Child Neurol. 1990 Nov;32(11):1011-6. doi: 10.1111/j.1469-8749.1990.tb08125.x.

DOI:10.1111/j.1469-8749.1990.tb08125.x
PMID:2269397
Abstract

Angelman syndrome usually has been considered to be rare and sporadic. However, recent reports suggest a sibling recurrence risk of just under 25 per cent, so early diagnosis is very important. The authors report Angelman syndrome in a child of seven months. The early features of this syndrome (jerky movements, EEG characteristics, chromosomal abnormalities in half the cases) should make it possible to diagnose or suspect the syndrome in the first year of life.

摘要

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引用本文的文献

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Epilepsy in Angelman syndrome: A scoping review.天使综合征中的癫痫:范围综述。
Brain Dev. 2021 Jan;43(1):32-44. doi: 10.1016/j.braindev.2020.08.014. Epub 2020 Sep 4.
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Parental view of epilepsy in Angelman syndrome: a questionnaire study.安格曼综合征患儿父母对癫痫的看法:一项问卷调查研究
Arch Dis Child. 1998 Nov;79(5):423-6. doi: 10.1136/adc.79.5.423.
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Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.27例因DNA缺失导致的天使综合征患者的临床特征。
J Med Genet. 1996 Feb;33(2):107-12. doi: 10.1136/jmg.33.2.107.
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Angelman's syndrome: a neuropathological study.安吉尔曼综合征:一项神经病理学研究。
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