SLC13A5 and Epileptic encephalopathy: Mutations, microdeletions, and gene duplication events within SLC25A1/CIC, SLC13A5/NACT and SLC33A1/AT-1 have been associated with different diseases spanning from developmental delay with multi-system deficits to progeria-like features, autism spectrum disorder (ASD) and attention deficit hyperactivity disorder, different forms of epileptic encephalopathy, as well as peripheral forms of neuropathy3,7–14.