EEF1A2 and hereditary disease: Genetic examination revealed a mutation in the phosphoglucomutase 1 (PGM1) gene, which is responsible for a rare congenital genetic disease affecting glycosylation and glycogen storage [4], and a variant of the eukaryotic translation elongation factor 1 alpha 2 (EEF1A2) gene on the long arm of the cr 20, which is responsible for unspecified early-onset epileptic encephalopathy and autosomal dominant non-syndromic intellectual disability [5] in the absence of clinically manifested disease.