Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype.

Clinical neurology and neurosurgery - 1 Oct 2022

Ayaz Akif, Doğru Zeynep, Kılıç Betül, Süzek Barış Ethem

Abstract excerpt

Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were shared and the whole-exome-sequencing study of the index case was performed. It was confirmed by the Sanger method. We found the RANBP2 gene p.I656V variant homozygous in the index case. We...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain Diseases
Share to Molecular Chaperones
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nuclear Pore Complex Proteins

Share to Phenotype

Source

Identifiers

PMID: 36029610
DOI: 10.1016/j.clineuro.2022.107418

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype.PMID 36029610Read ↗

Familial acute necrotizing encephalopathy without RANBP2 mutation: Poor outcome.Semantic proximity Read ↗

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.Semantic proximity Read ↗

Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in PediatricsSemantic proximity Read ↗

Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene.Semantic proximity Read ↗

Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia.Semantic proximity Read ↗

A Rare Case of COVID-19 Related Acute Necrotizing Encephalopathy With the RANBP2 Mutation in a Pediatric Patient.Semantic proximity Read ↗

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.Semantic proximity Read ↗

Variable Phenotype in Three Siblings With RAN Binding Protein 2 Variant With Potential Preventive Treatment for Recurrences.Semantic proximity Read ↗

Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 MutationSemantic proximity Read ↗

Human herpesvirus 6-associated acute necrotizing encephalopathy in an infant with a mutation in the RANBP2 gene.Semantic proximity Read ↗

The interplay of infection and genetics in acute necrotizing encephalopathySemantic proximity Read ↗

Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.