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

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Title: A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy.
Authors: Hu, Yu (AUTHOR), Tian, Zhen (AUTHOR), Zhao, Bin (AUTHOR), Dong, Chuansheng (AUTHOR), Cao, Lihua (AUTHOR)
Source: Neurological Sciences. Jun2022, Vol. 43 Issue 6, p3973-3977. 5p. 2 Diagrams.
Subjects: Brain diseases, Virus diseases
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. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy.
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  Data: <searchLink fieldCode="AR" term="%22Hu%2C+Yu%22">Hu, Yu</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tian%2C+Zhen%22">Tian, Zhen</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zhao%2C+Bin%22">Zhao, Bin</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Dong%2C+Chuansheng%22">Dong, Chuansheng</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cao%2C+Lihua%22">Cao, Lihua</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Jun2022, Vol. 43 Issue 6, p3973-3977. 5p. 2 Diagrams.
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  Data: 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. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1007/s10072-022-06033-8
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              Text: Jun2022
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