Mainly, Arg1872 of human NaV1.6, Arg1870 in mice (see Supplementary Fig. S5) has been reported to be a hotspot for missense mutations26–28 related to several forms of epilepsy, including Arg1872Trp, Arg1872Gln and a mutant that produces a truncated C-terminus. The gene discussed is SCN8A; the disease is epilepsy.