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

Review of previously reported <i>NARS2</i> variants indicates that both missense and loss-of-function mutations can lead to variable disease severity depending on residual enzyme activity. This case broadens the phenotypic and mutational spectrum of <i>NARS2</i>-associated COXPD24 and highlights the importance of evaluating large exon deletions and novel variants in infants with early-onset mitochondrial encephalopathy and epileptic manifestations.