Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy
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- 作者：Lehong Gaoa ; Liping Lia ; Jing Yea ; Xilin Zhub ; Ning Shenb ; Xiating Zhanga ; Dequan Wanga ; Yu Gaoa ; Hua Lina ; Yuping Wanga ; doctorwangyuping@163.com" class="auth_mail" title="E-mail the corresponding author ; Ying Liub ; liuyingpumc@163.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Cortical myoclonic tremor with epilepsy ; PLA2G6 ; Whole-exome sequencing
- 刊名：Seizure
- 出版年：2016
- 出版时间：October 2016
- 年：2016
- 卷：41
- 期：Complete
- 页码：81-85
- 全文大小：673 K
文摘
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We describe the clinical and neurophysiological feature of a Chinese FCMTE family.
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We used whole-exome sequencing to detect the possible mutations.
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A missense mutation in PLA2G6 [c.475C > T] segregated in a dominant manner.
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We speculate that a disorder in AA metabolism may be the pathogenesis in the family.