Dravet syndrome with favourable cognitive and behavioral development due to a novel SCN1A frameshift mutation
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- 作者：Peifang Jiang1 ; Jue Shen1 ; Yonglin Yu ; Lihua Jiang ; Jialu Xu ; Lu Xu ; Huimin Yu ; Feng Gao ; jpf2002@163.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Dravet syndrome ; SCN1A ; Frameshift mutation ; Cognitive and behavioral development
- 刊名：Clinical Neurology and Neurosurgery
- 出版年：2016
- 出版时间：July 2016
- 年：2016
- 卷：146
- 期：Complete
- 页码：144-146
- 全文大小：452 K
文摘
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Dravet syndrome is usually refractory to standard anti-epileptic medication.
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Children with DS often have severe cognitive, behaviour and motor impairments.
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A DS patient has a favourable cognitive development due to a SCN1A mutation.