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
Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage.
Khodaeian M et al.
Journal of Clinical Laboratory Analysis, 2023
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
Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.
Vafaee-Shahi M et al.
Irish Journal of Medical Science, 2022
Novel NARS2 variant causing leigh syndrome with normal lactate levels.
Tanaka R et al.
Human Genome Variation, 2022
Study of novel NARS2 variants in patient of combined oxidative phosphorylation deficiency 24.
Zhang Y et al.
Translational Pediatrics, 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 2022
36212160 (PubMed )
Supplement: DataSheet2.xlsx › Table_S2
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
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review.
Štěrbová K et al.
Neurogenetics, 2021
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
31967322 (PubMed )
Supplement: JIMD-43-819-s004.xlsx › Sheet1
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee JS et al.
Clinical Genetics, 2020
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