De novo missense mutations in eEF1A2 have also been identified in patients with diverse neurodevelopmental syndromes such as intellectual disability [69], epilepsy [70], autistic behavior [71], and Rett syndrome-like (RTT‐like) phenotype [72], etc. Taken together, dysregulated translation elongation caused by eEF1A2 mutations is a key contributor to neurodegeneration. This evidence concerns the gene EEF1A2 and Rett syndrome.