Article
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.
Brain & development - 1 Sept 2014
Xu Xiaojing, Zhang Yuehua, Sun Huihui, Liu Xiaoyan, Yang Xiaoling, Xiong Hui, Jiang Yuwu, Bao Xinhua, Wang Shuang, Yang Zhixian, Wu Ye, Qin Jiong, Lin Qing, Wu Xiru
Abstract excerpt
OBJECTIVE: To summarize the early clinical features of Dravet syndrome (DS) patients with SCN1A gene mutations before the age of one. METHODS: SCN1A gene mutation screening was performed by PCR-DNA sequencing and multiple ligation-dependent probe amplication (MLPA). The early clinical features of DS patients with SCN1A mutations were reviewed with attention to the seizures induced by fever and other precipitating...
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