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Article

Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.

Journal of child neurology - 1 Jun 2016

Taskin Birce Dilge, Karalok Zeynep Selen, Gurkas Esra, Aydin Kursad, Aydogmus Ummu, Ceylaner Serdar, Karaer Kadri, Yilmaz Cahide, Pearl Phillip Lawrence

Abstract excerpt

Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly described childhood leukoencephalopathy caused by...

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Source

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Identifiers

PMID: 26893310
DOI: 10.1177/0883073816630087
PMCID: PMC6020828

Genes

EARS2

Variants

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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Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.PMID 26893310Read ↗

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