Of these, the 50% of the mutations identified in patients with PURA syndrome treated with the KD (Table 1) are frameshift mutations (p.Ser43Alafs*34 [1]; p.Gly33Alafs*45; p.Leu54Cysfs*24; p.Leu148Trpfs*77 [2]; and p.Ile196fs*29 [11]), emphasizing the possible role of NMD in influencing the disease’s expression. The gene discussed is PLA1A; the disease is PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.