A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference10 articles.
1. Leukoencephalopathy with thalamus and brainstem involvement and high lactate ’LTBL’ caused by EARS2 mutations;Steenweg;Brain,2012
2. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation;Talim;Brain,2013
3. Absent thalami caused by a homozygous EARS2 mutation: expanding disease spectrum of LTBL;Kevelam;Neuropediatrics,2016
4. Expanding the clinical and magnetic resonance spectrum of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) in a patient harboring a novel EARS2 mutation;Biancheri;JIMD Rep,2015
5. The Denver II: a major revision and restandardization of the Denver Developmental Screening Test;Frankenburg;Pediatrics,1992
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1. Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review;Neurobiology of Disease;2024-10
2. Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate;Brain and Development;2021-08
3. Metabolic impact of pathogenic variants in the mitochondrial glutamyl‐tRNA synthetase EARS2;Journal of Inherited Metabolic Disease;2021-04-27
4. Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL;Genes;2020-09-02
5. Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination;Journal of Neurodevelopmental Disorders;2019-12
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