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学科主题临床医学
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations
Xu, Xiaojing1; Zhang, Yuehua1; Sun, Huihui2; Liu, Xiaoyan1; Yang, Xiaoling1; Xiong, Hui1; Jiang, Yuwu1; Bao, Xinhua1; Wang, Shuang1; Yang, Zhixian1; Wu, Ye1; Qin, Hong1; Lin, Qing1; Wu, Xiru1
关键词Dxavet syndrome SCN1A gene Mutation Febrile seizures Diagnosis
刊名BRAIN & DEVELOPMENT
2014-09-01
DOI10.1016/j.braindev.2013.10.004
36期:8页:676-681
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]SEVERE MYOCLONIC EPILEPSY ; FEBRILE SEIZURES ; UNPROVOKED SEIZURES ; GENE SCN1A ; INFANCY ; CONVULSIONS ; CHILDREN ; PERTUSSIS ; MEASLES ; VACCINE
英文摘要

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 factors before the first year of life. Results: The clinical data of 138 DS patients with SCN1A gene mutations were reviewed. The median seizure onset age was 5.3 months. Ninety-nine patients (71.7%) experienced seizures with duration more than 15 min in the first year of life. Two or more seizures induced by fever within 24 h or the same febrile illness were observed in 93 patients (67.4%). 111 patients (80.4%) had hemi-clonic and (or) focal seizures. Seizures had been triggered by fever of low degree (T< 38 degrees C) in 62.3% (86/138) before the first year of life. Vaccine-related seizures were observed in 34.8% (48/ 138). Seizures in 22.5% (31/138) of patients were triggered by hot bath. Carbamazepine, oxcarbazepine, lamotrigine, phenobarbital and phenytoin showed either no effect or exacerbating the seizures in our group. Conclusion: The seizure onset age in DS patients was earlier than that was in common febrile seizures. When a baby exhibits two or more features of complex febrile seizures in the first year of life, a diagnosis of DS should be considered, and SCN1A gene mutation screening should be performed as early as possible. Early diagnosis of DS will help clinicians more effectively prescribe antiepileptic drugs for stronger prognosis. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

语种英语
所属项目编号81171221
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
WOS记录号WOS:000349429200005
Citation statistics
Cited Times:13[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/65724
Collection北京大学第一临床医学院_儿科
作者单位1.Being Ji Shui Tan Hosp, Dept Pediat, Beijing, Peoples R China
2.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
Recommended Citation
GB/T 7714
Xu, Xiaojing,Zhang, Yuehua,Sun, Huihui,et al. Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations[J]. BRAIN &amp; DEVELOPMENT,2014,36(8):676-681.
APA Xu, Xiaojing.,Zhang, Yuehua.,Sun, Huihui.,Liu, Xiaoyan.,Yang, Xiaoling.,...&Wu, Xiru.(2014).Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.BRAIN & DEVELOPMENT,36(8),676-681.
MLA Xu, Xiaojing,et al."Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations".BRAIN & DEVELOPMENT 36.8(2014):676-681.
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