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Article

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

Pediatric neurology - 1 Sept 2026

Alrifai Muhammad Talal, Rizq Maha A, Bali Ahmad H, Alshenqiti Abduljabbar, Al Hammad Abdullah, Alqurainees Ghaya Ibrahim

Abstract excerpt

BACKGROUND: Familial acute necrotizing encephalopathy, or acute necrotizing encephalopathy type 1 (ANE1), is a rare genetic disorder, with the majority of cases linked to a pathogenic variant in the RAN Binding Protein 2 (RANBP2) gene. Although it shares many features of the sporadic type, it shows significant phenotypic variability within the same family, with a tendency toward recurrence in many cases. CASE...

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Child, Preschool
RAN gene
Molecular Chaperones
Nuclear Pore Complex Proteins
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42407393
DOI: 10.1016/j.pediatrneurol.2026.06.006

Genes

RANBP2
RAN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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