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.