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. |
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| 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] |
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| Database: | Psychology and Behavioral Sciences Collection |
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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. [ABSTRACT FROM AUTHOR] |
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| ISSN: | 15901874 |
| DOI: | 10.1007/s10072-022-06033-8 |
