Table 3

Clinical status and basal QTc in all other KCNQ1 mutation carriers according to mutation topology

MutationNo.SymptomaticPossibly asymptomaticTruly asymptomaticQTca
Non-missense28636 (13%)73 (25%)177 (62%)458 ± 30
C-loop18427 (15%)44 (24%)113 (61%)470 ± 43
C-loop with defective I  Ks regulation388 (21%)11 (29%)19 (50%)491 ± 46
Transmembrane21166 (31%)57 (27%)88 (42%)467 ± 40
C-terminus14219 (13%)59 (42%)64 (45%)463 ± 36
N-terminus392 (5%)14 (36%)23 (59%)452 ± 37
Total900158 (17%)258 (29%)484 (54%)
MutationNo.SymptomaticPossibly asymptomaticTruly asymptomaticQTca
Non-missense28636 (13%)73 (25%)177 (62%)458 ± 30
C-loop18427 (15%)44 (24%)113 (61%)470 ± 43
C-loop with defective I  Ks regulation388 (21%)11 (29%)19 (50%)491 ± 46
Transmembrane21166 (31%)57 (27%)88 (42%)467 ± 40
C-terminus14219 (13%)59 (42%)64 (45%)463 ± 36
N-terminus392 (5%)14 (36%)23 (59%)452 ± 37
Total900158 (17%)258 (29%)484 (54%)
a

QTc measurements are mean ± standard deviation.

Table 3

Clinical status and basal QTc in all other KCNQ1 mutation carriers according to mutation topology

MutationNo.SymptomaticPossibly asymptomaticTruly asymptomaticQTca
Non-missense28636 (13%)73 (25%)177 (62%)458 ± 30
C-loop18427 (15%)44 (24%)113 (61%)470 ± 43
C-loop with defective I  Ks regulation388 (21%)11 (29%)19 (50%)491 ± 46
Transmembrane21166 (31%)57 (27%)88 (42%)467 ± 40
C-terminus14219 (13%)59 (42%)64 (45%)463 ± 36
N-terminus392 (5%)14 (36%)23 (59%)452 ± 37
Total900158 (17%)258 (29%)484 (54%)
MutationNo.SymptomaticPossibly asymptomaticTruly asymptomaticQTca
Non-missense28636 (13%)73 (25%)177 (62%)458 ± 30
C-loop18427 (15%)44 (24%)113 (61%)470 ± 43
C-loop with defective I  Ks regulation388 (21%)11 (29%)19 (50%)491 ± 46
Transmembrane21166 (31%)57 (27%)88 (42%)467 ± 40
C-terminus14219 (13%)59 (42%)64 (45%)463 ± 36
N-terminus392 (5%)14 (36%)23 (59%)452 ± 37
Total900158 (17%)258 (29%)484 (54%)
a

QTc measurements are mean ± standard deviation.

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