PMC5999725_01
Pedigree of a family presenting with normokalemic periodic paralysis (NormoKPP). The filled symbols indicate individuals with NormoKPP, whereas the open symbols show individual without NormoKPP. The individuals with asterisks were examined by gene sequencing. The arrow indicates the index case.
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F1
Multiple family members were involved (Figure 1, Table 1).
A heterozygous mutation of c.4774A > G in the nucleotide sequence of SCN4A, resulting in a change from methionine to valine (p.M1592V).
fneur-09-00430-g0002.jpg
PMC5999725_01_fneur-09-00430-g0002.jpg
F2
The mutation resulted in a change from methionine to valine (p.M1592V) (Figure 2A). His children had the same heterozygous mutation point in the exon region of the SCN4A gene (Figures 2B,C).