A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients
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- 作者：Jiao Xue xuejiao2277@163.com" class="auth_mail" title="E-mail the corresponding author ; Ping Qian qianpingerke@163.com" class="auth_mail" title="E-mail the corresponding author ; Hui Li lihui1409@163.com" class="auth_mail" title="E-mail the corresponding author ; Ye Wu dryewu@263.net" class="auth_mail" title="E-mail the corresponding author ; Xiaoyan Liu dr_lxy@sina.com" class="auth_mail" title="E-mail the corresponding author ; Zhixian Yang ; zhixian.yang@163.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Pyridoxine-dependent epilepsy ; ALDH7A1 gene ; Antiquitin ; High prevalence mutation
- 刊名：Epilepsy Research
- 出版年：2015
- 出版时间：December 2015
- 年：2015
- 卷：118
- 期：Complete
- 页码：1-4
- 全文大小：552 K
文摘
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A cohort of patients with pyridoxine-dependent epilepsy were diagnosed genetically.
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Five novel mutations of ALDH7A1 gene were found here.
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Splicing mutation IVS11+1G>A was identified as a high prevalence mutation.