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December 5, 2025Frontiers in NeurologyOpen Access

Stroke-like lesion and status epilepticus in a child with NARS2-related combined oxidative phosphorylation deficiency 24

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Authors

YLYong Liu

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Overview

Case report reveals status epilepticus and mitochondrial encephalopathy in a child with NARS2 variants, highlighting genetic contributions to COXPD24.

Key Points

  • Infant with status epilepticus showed brain imaging revealing a stroke-like lesion, indicating severe mitochondrial disease.
  • Whole-exome sequencing identified compound heterozygous variants in the NARS2 gene, rare in the literature.
  • Neuroimaging suggested metabolic infarction, coupled with elevated serum lactate levels indicating metabolic distress.
  • Potential implications include expanding the known clinical spectrum of NARS2-related mitochondrial disorders.

Cite This Study

Yong Liu (2025) studied this question.

synapsesocial.com/papers/6940225c2d562116f28fc4bchttps://doi.org/10.3389/fneur.2025.1731858
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