Although the 126 AA location change to Trp(c.378C > G (p.Cys126Trp)) of CDKL5 can be observed in other infantile spasm patients in Clinvar, in our patient 2, the 377 base mutation (c.377G > T) translated to 126 Phe (p.Cys126Phe), is the first report to our knowledge. This evidence concerns the gene CDKL5 and infantile spasms.