In four related Japanese boys with infantile seizures, psychomotor retardation, and characteristic lesions on brain MRI (focal T2W hyperintensity in bilateral symmetrical thalamic and basal nuclei, with cerebellar and cerebral cortical atrophy), a homozygous mutation was found (c.958G>C, p.E320Q) in SLC19A3. There was no change in either neurological symptoms or brain MRI lesions in response to biotin administration in the one boy who was treated [9]. This evidence concerns the gene SLC19A3 and Cerebral cortical atrophy.