Clinical status and basal QTc in all other KCNQ1 mutation carriers according to mutation topology
Mutation . | No. . | Symptomatic . | Possibly asymptomatic . | Truly asymptomatic . | QTca . |
---|---|---|---|---|---|
Non-missense | 286 | 36 (13%) | 73 (25%) | 177 (62%) | 458 ± 30 |
C-loop | 184 | 27 (15%) | 44 (24%) | 113 (61%) | 470 ± 43 |
C-loop with defective I Ks regulation | 38 | 8 (21%) | 11 (29%) | 19 (50%) | 491 ± 46 |
Transmembrane | 211 | 66 (31%) | 57 (27%) | 88 (42%) | 467 ± 40 |
C-terminus | 142 | 19 (13%) | 59 (42%) | 64 (45%) | 463 ± 36 |
N-terminus | 39 | 2 (5%) | 14 (36%) | 23 (59%) | 452 ± 37 |
Total | 900 | 158 (17%) | 258 (29%) | 484 (54%) |
Mutation . | No. . | Symptomatic . | Possibly asymptomatic . | Truly asymptomatic . | QTca . |
---|---|---|---|---|---|
Non-missense | 286 | 36 (13%) | 73 (25%) | 177 (62%) | 458 ± 30 |
C-loop | 184 | 27 (15%) | 44 (24%) | 113 (61%) | 470 ± 43 |
C-loop with defective I Ks regulation | 38 | 8 (21%) | 11 (29%) | 19 (50%) | 491 ± 46 |
Transmembrane | 211 | 66 (31%) | 57 (27%) | 88 (42%) | 467 ± 40 |
C-terminus | 142 | 19 (13%) | 59 (42%) | 64 (45%) | 463 ± 36 |
N-terminus | 39 | 2 (5%) | 14 (36%) | 23 (59%) | 452 ± 37 |
Total | 900 | 158 (17%) | 258 (29%) | 484 (54%) |
QTc measurements are mean ± standard deviation.
Clinical status and basal QTc in all other KCNQ1 mutation carriers according to mutation topology
Mutation . | No. . | Symptomatic . | Possibly asymptomatic . | Truly asymptomatic . | QTca . |
---|---|---|---|---|---|
Non-missense | 286 | 36 (13%) | 73 (25%) | 177 (62%) | 458 ± 30 |
C-loop | 184 | 27 (15%) | 44 (24%) | 113 (61%) | 470 ± 43 |
C-loop with defective I Ks regulation | 38 | 8 (21%) | 11 (29%) | 19 (50%) | 491 ± 46 |
Transmembrane | 211 | 66 (31%) | 57 (27%) | 88 (42%) | 467 ± 40 |
C-terminus | 142 | 19 (13%) | 59 (42%) | 64 (45%) | 463 ± 36 |
N-terminus | 39 | 2 (5%) | 14 (36%) | 23 (59%) | 452 ± 37 |
Total | 900 | 158 (17%) | 258 (29%) | 484 (54%) |
Mutation . | No. . | Symptomatic . | Possibly asymptomatic . | Truly asymptomatic . | QTca . |
---|---|---|---|---|---|
Non-missense | 286 | 36 (13%) | 73 (25%) | 177 (62%) | 458 ± 30 |
C-loop | 184 | 27 (15%) | 44 (24%) | 113 (61%) | 470 ± 43 |
C-loop with defective I Ks regulation | 38 | 8 (21%) | 11 (29%) | 19 (50%) | 491 ± 46 |
Transmembrane | 211 | 66 (31%) | 57 (27%) | 88 (42%) | 467 ± 40 |
C-terminus | 142 | 19 (13%) | 59 (42%) | 64 (45%) | 463 ± 36 |
N-terminus | 39 | 2 (5%) | 14 (36%) | 23 (59%) | 452 ± 37 |
Total | 900 | 158 (17%) | 258 (29%) | 484 (54%) |
QTc measurements are mean ± standard deviation.
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