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Key Clinical Message  Our study reports the case of a patient with early onset of epileptic encephalopathy harboring compound heterozygous  Szt2  variants. We provide the first evidence that these  Szt2  variants impair mitochondrial energy metabolism. Our results shed light on their pathogenic molecular mechanism and clinical implications for brain development and disease progression.

Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early‐onset of epileptic encephalopathy