Thus, the phenotypic expansion, in accordance with data available from electrophysiological studies showing pathological decrements and results from therapeutic interventions showing beneficial effects [6, 7], led to the re-classification of the PURA syndrome as a PURA-CMS [8, 9]. Here, PURA is linked to PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.