During the screening phase, 207 articles were excluded for various reasons: 163 were unrelated to the PURA gene, 13 discussed the function of the PURA gene, 23 mentioned pathogenic variants in the PURA gene but lacked individual information and 8 focused on 5q31 microdeletion syndrome instead of PURA syndrome. This evidence concerns the gene PURA and PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.