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 |