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Article

Familial acute necrotizing encephalopathy without RANBP2 mutation: Poor outcome.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Nov 2016

Nishimura Naoko, Higuchi Yoshihisa, Kimura Nobusuke, Nozaki Fumihito, Kumada Tomohiro, Hoshino Ai, Saitoh Makiko, Mizuguchi Masashi

Abstract excerpt

Most childhood cases of acute necrotizing encephalopathy (ANE) involve neither family history nor recurrence. ANE occasionally occurs, however, as a familial disorder or recurs in Caucasian patients. A mutation of RAN-binding protein 2 (RANBP2) has been discovered in more than one half of familial or recurrent ANE patients. In contrast, there has been no report of this mutation in East Asia. Here, we report the...

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Source

Identifiers

PMID: 27882739
DOI: 10.1111/ped.13119

Genes

RANBP2
CPT2
RAN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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