Associated Papers
Compound heterozygous variants of the NARS2 gene in siblings with refractory seizures: two case report and literature review.
Wu H et al.
Frontiers in Pediatrics, 2025
Stroke-like lesion and status epilepticus in a child with NARS2-related combined oxidative phosphorylation deficiency 24.
Su S et al.
Frontiers in Neurology, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case Report.
Finsterer J et al.
Cureus, 2023
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Tollefson MR et al.
Human Genetics, 2023
37086329 (PubMed )
Supplement: 439_2023_2559_MOESM3_ESM.xlsx › Sheet1
Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations.
Hu W et al.
Frontiers in Neuroscience, 2022
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