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Article

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

BMC pediatrics - 3 Feb 2024

Yang Nuo, Chen Limin, Zhang Yanfeng, Wu Xuemei, Hao Yunpeng, Yang Fan, Yang Zuozhen, Liang Jianmin

Abstract excerpt

BACKGROUND: NARS2 as a member of aminoacyl-tRNA synthetases was necessary to covalently join a specific tRNA to its cognate amino acid. Biallelic variants in NARS2 were reported with disorders such as Leigh syndrome, deafness, epilepsy, and severe myopathy. CASE PRESENTATION: Detailed clinical phenotypes were collected and the NARS2 variants were discovered by whole exome sequencing and verified by Sanger...

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Share to Aspartate-tRNA Ligase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38310242
DOI: 10.1186/s12887-024-04553-0
PMCID: PMC10837881

Genes

NARS2

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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