Mutations in the SLC25A12, which encodes the mitochondrial aspartate-glutamate carrier isoform 1 (AGC1), were identified in patients presenting a developmental delay, hypotonia and intractable seizures associated with a global hypomyelination in the brain (Wibom et al., 2009; Falk et al., 2014). This evidence concerns the gene SLC25A12 and Global developmental delay.