ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022
A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 4 citations in OpenAlex.
- A nomogram model for early recognition of acute necrotizing encephalopathy: a retrospective study.Translational pediatrics · 2026Article
- Pathogenesis and Research Models of Acute Influenza-Associated Encephalitis/Encephalopathy: An Update.Viruses · 2026Review
- Clinical characteristics and associated factors of pediatric acute necrotizing encephalopathy: a retrospective study.Clinical and experimental pediatrics · 2025Article
- Genetic and environmental risk factors of acute infection-triggered encephalopathy.Frontiers in neuroscience · 2023Review
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5 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
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.
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