Table 1.
Patient | Missense
mutation
|
||||
---|---|---|---|---|---|
Nav1.2
|
Nav1.1 | β1 | |||
Exon 1 | Exon 4 | Exon 10 | |||
P1 | Arg19Lys | Arg187Trp | Arg524Gln | ND† | ND |
c.56G→A | c.562C→T* | c.1571G→A | |||
P2 | Arg524Gln c.1571G→A | A missense mutation in a transmembrane helix‡* | ND | ||
P3, P4, P5, P6 | Arg19Lys | ND | ND | ||
c.56G→A | |||||
Control | 9/112 | 0/112 | 1/162 | 0/112 |
Bold characters indicate disease mutations.
ND, No mutation was detected.
Will be reported elsewhere (36).