Autosomal dominant acute necrotising encephalopathy: A case report with possible disease-expression modification by coincidental homocysteinuria
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference9 articles.
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2. Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13;Neilson;Annals of Neurology,2004
3. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2;Neilson;The American Journal of Human Genetics,2009
4. Association of the kinesin-binding domain of RanBP2 to KIF5B and KIF5C determines mitochondrial localization and function;Cho;Traffic,2007
5. RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism;Aslanukov;PLoS Genetics,2006
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1. Clinical features and imaging manifestations of acute necrotizing encephalopathy in children;International Journal of Developmental Neuroscience;2022-06-22
2. Roles of Nucleoporin RanBP2/Nup358 in Acute Necrotizing Encephalopathy Type 1 (ANE1) and Viral Infection;International Journal of Molecular Sciences;2022-03-24
3. RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype;European Journal of Paediatric Neurology;2015-03
4. Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: Is it useful?;Brain and Development;2012-05
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