Pathogenic SLC25A22 variants are found throughout the gene and are responsible for a continuum of disorders from moderate to severe epileptic syndrome. The SLC25A22- related disorders are rare, with 21 patients described in the world, and characterized by an early onset epilepsy (< 2 months of age), intellectual disability, hypotonia and a poor diagnosis. The inheritance is autosomal recessive, meaning that patients have two variants, one received from each parent.