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. 2001 May 22;98(11):6384–6389. doi: 10.1073/pnas.111065098

Figure 1.

Figure 1

Missense mutations identified in a Japanese family with febrile seizures associated with afebrile seizures. (A) Pedigree of Japanese family K1 with FS and afebrile seizures (proband) and FS only (parents). c.562C → T (R187W) mutations appeared in proband P1 and his father. Circles = females, squares = males, arrow = proband, filled square = FS associated with afebrile seizures, half-filled square and circle = FS. (B) Electropherogram of the mutation in the gene for Nav1.2 identified in family K1. The nucleotide sequence of the relevant region of exon 4 of the proband is shown. Arrow indicates nucleotide 562, where a heterozygous C-to-T transition resulted in an amino acid substitution, R187W.