A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy

被引：0
作者：
Yu Hu
Zhen Tian
Bin Zhao
Chuansheng Dong
Lihua Cao
机构：
[1] Naval Medical University,Center of Reproductive Medicine, Second Affiliated Hospital
[2] Shenyang Sport University,College of Kinesiology
[3] Shenyang Sport University,School of Management
来源：
Neurological Sciences | 2022年 / 43卷
关键词：
Acute necrotizing encephalopathy; Whole-exome sequencing; Variation;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy occurring in otherwise healthy children after common viral infections. The condition presents as a spectrum of symptoms ranging from infections to seizures and coma, with the potential to cause long-term neurocognitive impairment or death. Familial and recurrent ANE is referred to as ANE1. A four-generation Chinese family with ANE1 was recruited for genetic analysis. A novel missense variation, c.9041A > G, p.(Glu3014Gly) in RANBP2 was identified in this family. This study is the first to identify a novel variation in RANBP2 in a Chinese family with ANE1.
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页码：3973 / 3977
页数：4
相关论文
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