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

Table 1.

Missense mutations of voltage-gated Na+ channel subunits identified in Japanese families with febrile seizures associated with afebrile seizures

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).