The first human patient with AGC1/aralar deficiency presented with neurodevelopmental arrest, epilepsy and severe hypomyelination was described more than ten years ago [10]; and, more recently, other AGC1 deficient patients with early infantile epileptic encephalopathy were reported [11,12,13,14,15,16,17,18]. Here, SLC25A12 is linked to infantile epileptic encephalopathy.