Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia

@article{Lee2017FamilialAN,
  title={Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia},
  author={Y. Lee and Su-Kyeong Hwang and So Mi Lee and Soonhak Kwon},
  journal={Brain \& Development},
  year={2017},
  volume={39},
  pages={625 - 628}
}
Abstract Background Acute necrotizing encephalopathy (ANE) is a rare but rapidly progressing encephalopathy following a febrile illness, commonly a viral infection. It is characterized by the features of acute encephalopathy such as seizure, alteration of consciousness, and symmetric involvement of the bilateral thalamus on neuroimaging tests. Although most ANE cases have occurred sporadically, familial or recurrent ANE has… Expand
8 Citations
Radiological manifestation of familial acute necrotizing encephalopathy with RANBP2 mutation in a Far-East Asian family: Case report.
TLDR
These cases highlight the radiological aspects of familial ANE with incomplete penetrance of the RANBP2 gene in 3 family members, showing variable involvements of the brain and natural history on magnetic resonance images. Expand
RANBP2 Mutation in a Child with Recurrent Acute Necrotizing Encephalopathy
TLDR
A 3-year-old girl was admitted to the emergency room because of a seizure that lasted for 30 minutes and rapid loss of consciousness and did not develop any complications since this episode of ANE. Expand
Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant
TLDR
Clinical manifestation, clinical course, and brain MRI imaging findings of six affected members of two distinct families with ADANE were described and incomplete penetrance of ADANE is reinforced and intrafamilial phenotypic variability of outcome is reinforced. Expand
Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy
TLDR
The presented cases are the first reports of familial ANE in Iran, and attempt was made to raise awareness on this disease, because high clinical suspicion plays an important role in the early diagnosis and proper management of these patients. Expand
Acute Necrotizing Encephalopathy in Children: a Long Way to Go
TLDR
ANE is a distinctive type of acute encephalopathy with diverse clinical spectrum and even though the diagnostic criteria are available, they might not be watertight and treatment options are still limited. Expand
RANBP2 susceptibility to infection-induced encephalopathy: Clinicoradiologic and molecular description in a Malaysian family
TLDR
The absence of pathogenic variants in both parents' blood is highlighted, raising the possibility of germline mosaicism in one of the parents as the underlying genetic mechanism of inheritance in RANBP2 Susceptibility to Infection-induced Encephalopathy. Expand
Child with Susceptibility to Infection-Induced Acute Encephalopathy 3
TLDR
Whole exome sequencing revealed a homozygous mutation of RAN-binding protein 2 gene, suggesting a diagnosis of susceptibility to infection-induced acute encephalopathy 3, which is an autosomal dominant condition. Expand
Moonlighting nuclear pore proteins: tissue-specific nucleoporin function in health and disease
TLDR
The nuclear pore complex is the main transportation hub for exchange between the cytoplasm and the nucleus, and nucleoporins forming the scaffold structure of the nuclearpore complex are eminently mutation-prone. Expand

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