Erschienen in:
28.03.2022 | Brief Communication
A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy
verfasst von:
Yu Hu, Zhen Tian, Bin Zhao, Chuansheng Dong, Lihua Cao
Erschienen in:
Neurological Sciences
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Ausgabe 6/2022
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Abstract
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.