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.
Keywords: compound heterozygous mutations; energy metabolism; epileptic encephalopathy; seizure threshold 2 gene; whole‐exome sequencing.