Cargando…
Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics
Genetic (also known as familial) acute necrotizing encephalopathy (ANE1) is a rare disease presenting with encephalopathy often following preceding viral febrile illness in patients with a genetic predisposition resulting from a missense mutation in the gene encoding RAN Binding Protein 2 (RANBP2)....
Autores principales: | Levine, Jesse M., Ahsan, Nusrat, Ho, Eugenia, Santoro, Jonathan D. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier B.V.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7228726/ https://www.ncbi.nlm.nih.gov/pubmed/32426208 http://dx.doi.org/10.1016/j.msard.2020.102194 |
Ejemplares similares
-
Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy
por: Paktinat, Mohamad, et al.
Publicado: (2021) -
Acute Necrotizing Encephalopathy: 2 Case Reports on
RANBP2 Mutation
por: Hartley, Molly, et al.
Publicado: (2021) -
Workshop on RanBP2/Nup358 and acute necrotizing encephalopathy
por: Palazzo, Alexander F., et al.
Publicado: (2022) -
Intense work-up is required for pediatric COVID-related acute necrotizing encephalopathy with RANBP2 variants
por: Finsterer, Josef, et al.
Publicado: (2023) -
Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia
por: Lee, Yun-Jeong, et al.
Publicado: (2017)