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学科主题: 临床医学
题名:
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations
作者: 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
发表日期: 2014-09-01
DOI: 10.1016/j.braindev.2013.10.004
卷: 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
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
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000349429200005
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65724
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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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:
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.
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