Summary of known BFNS mutations in the KCNQ2 potassium channel subunit. Numbering is based on the long form of KCNQ2 (including exon 10a)
| Variant | Amino Acid change | Location |
|---|---|---|
| *Our data; †Numbering according to authors; ‡Phenotype not compatible with typical benign familial neonatal seizures | ||
| c.1A→G* | M1V (no start) | N-ter |
| c.2T→C* | M1T (no start) | N-ter |
| c.204insC* | K69fsX119 | N-ter |
| c.585insT22† | A196fsX262 | Loop II–III† |
| c.587C→T22 | A196V | S4 |
| c.590T→C22 | L197P | S4 |
| c.619C→T14 | R207W | S4 |
| c.640C→T23 | R214W | S4 |
| c.740C→G24‡ | S247W | S5 |
| c.749T→G22 | V250G | S5 |
| c.847insGT4 | K283fsX319 | P-loop |
| c.851A→G4 | Y284C | P-loop |
| c.926G→A4 | A306T | S6 |
| c.1016T→G22 | L339R | C-ter |
| c.1057C→G* | R353G | C-ter |
| c.1221+2T→G25 | Splice donor site (K407) | C-ter |
| c.1288C→T* | Truncation (R430X) | C-ter |
| Unknown22 | R458X† | C-ter |
| c.1471+1G→A* | Splice donor site (E491) | C-ter |
| c.1510del134 | S504fsX506 | C-ter |
| c.1575+1G→A4 | Splice donor site (C526) | C-ter |
| c.1630insGCCCT3 | Y544fsX549 | C-ter |
| c.1688G→A22 | R563Q | C-ter |
| c.1710A→T* | Exonic splice site (R570) | C-ter |
| c.1856T→G* | L619R | C-ter |
| c.1876delT26 | Y626fsX910 | C-ter |
| c.2073delT27 | P691fsX911 | C-ter |
| c. 2543delG12 | G848fsX911 | C-ter |