In 2015, we identified a single individual with early infantile epileptic encephalopathy and two variants in CAD, one an in-frame deletion of an exon and the other a missense variant (p.R2024Q) in a highly conserved residue.7 Metabolic analysis of subject fibroblasts showed impaired CAD activity–dependent incorporation of 3H-labeled aspartate into nucleic acids and nucleotide sugars, precursors for glycoprotein synthesis. This evidence concerns the gene CAD and Epileptic encephalopathy.