Novel West syndrome candidate genes in a Chinese cohort
Novel West syndrome candidate genes in a Chinese cohort
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中国队列中的新韦斯特综合征候选基因
DOI：
10.1111/cns.12860
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发表时间：
2018-12-01
影响因子：
5.5
通讯作者：
Pang, Nan
中科院分区：
文献类型：
--
作者：
Peng, Jing;Wang, Ying;Pang, Nan
West综合征（WS）是早期婴儿癫痫性脑病（EIEE）的一种典型形式，其特征为强直性痉挛伴群集、精神发育停滞和脑电图上的高度心律失常。遗传缺陷在WS的病理学中起着关键作用，迄今为止已鉴定出54个EIEE基因。这项研究旨在发现West综合征的新候选基因。
West syndrome (WS) is a classic form of early infantile epileptic encephalopathy (EIEE) characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on electroencephalography. Genetic defects play a critical role in the pathology of WS, and 54 EIEE genes have been identified till date. This study was designed to uncover new candidate genes for West syndrome.