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. 2015 Feb 11;6:22. doi: 10.3389/fphys.2015.00022

Table 1.

Mutations in ion channel-coding genes linked to ADNFLE.

Gene Protein/subunit Mutation Reference
CHRNA4 nAChR (α4) S248F Steinlein et al., 1995
S252L Hirose et al., 1999
776ins3 Steinlein et al., 1997
T265I Leniger et al., 2003
CHRNB2 nAChR (β2) V287L De Fusco et al., 2000
V287M Phillips et al., 2001
I312M Bertrand et al., 2005
L301V Hoda et al., 2008
V308A
CHRNA2 nAChR (α2) I279N Aridon et al., 2006
KCNT1 Kca4.1 M896I Heron et al., 2012
R398Q
Y79 6H
R928C