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

Abstract

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.