Table 2 shows the variants of interest identified in the SCN1A gene. Variants of the gene have been associated with a severe form of epileptic encephalopathy, namely Dravet syndrome, and with generalized epilepsy with febrile seizures in the scientific literature [35,36]. Accordingly, a known reported pathogenic variant was identified, p.S228P. The variant is absent from population genetic databases, and it is predicted to be pathogenic by the most relevant predictive in silico tools. Furthermore, the variant fulfills the PP5, PP3, PM2, PM5, PM1and PP2 criteria of pathogenicity [37]. The gene discussed is SCN1A; the disease is encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy.