Approximately 1% of early infantile epileptic encephalopathies are associated with missense mutations in the SCN8A gene, and approximately 50 cases have been described in the literature (Veeramah et al. 2012; Larsen et al. 2015; Wagnon and Meisler 2015; Meisler et al. 2016). The gene discussed is SCN8A; the disease is Epileptic encephalopathy.