Disease . | Disease subtype/classification . | Gene . | Protein . | Ion channel type . | Molecular defect . | Reference . |
---|---|---|---|---|---|---|
IKs disease | LQT1 | KCNQ1 | KvLQT1 | IKs channel (α-subunit) | loss of function | [4] |
LQT5 | KCNE1 | MinK | IKs channel (β-subunit) | loss of function | [5] | |
FAF | KCNQ1 | KvLQT1 | IKs channel (α-subunit) | gain of function | [6–8] | |
SQT2 | KCNQ1 | KvLQT1 | IKs channel (α-subunit) | gain of function | [9] | |
IKr disease | LQT2 | KCNH2 | HERG | IKr channel (α-subunit) | loss of function | [10] |
LQT6 | KCNE2 | MiRP1 | IKr channel (β-subunit) | loss of function | [11] | |
SQT1 | KCNH2 | HERG | IKr channel (α-subunit) | gain of function | [12] | |
INa disease | LQT3 | SCN5A | Nav1.5 | INa channel | gain of function | [13] |
Brugada syndrome | SCN5A | Nav1.5 | INa channel | loss of function | [14,15] | |
FCD | SCN5A | – | INa channel | loss of function | [16] | |
IK1 disease | Andersen syndrome | KCNJ2 | Kir2.1 | IK1 channel | – | [17] |
SQT3 | KCNJ2 | Kir2.1 | IK1 channel | gain of function | [18] | |
Ankyrin disease | LQT4 | ANK2 | Ankyrin B | Ankyrin | – | [19] |
Disease . | Disease subtype/classification . | Gene . | Protein . | Ion channel type . | Molecular defect . | Reference . |
---|---|---|---|---|---|---|
IKs disease | LQT1 | KCNQ1 | KvLQT1 | IKs channel (α-subunit) | loss of function | [4] |
LQT5 | KCNE1 | MinK | IKs channel (β-subunit) | loss of function | [5] | |
FAF | KCNQ1 | KvLQT1 | IKs channel (α-subunit) | gain of function | [6–8] | |
SQT2 | KCNQ1 | KvLQT1 | IKs channel (α-subunit) | gain of function | [9] | |
IKr disease | LQT2 | KCNH2 | HERG | IKr channel (α-subunit) | loss of function | [10] |
LQT6 | KCNE2 | MiRP1 | IKr channel (β-subunit) | loss of function | [11] | |
SQT1 | KCNH2 | HERG | IKr channel (α-subunit) | gain of function | [12] | |
INa disease | LQT3 | SCN5A | Nav1.5 | INa channel | gain of function | [13] |
Brugada syndrome | SCN5A | Nav1.5 | INa channel | loss of function | [14,15] | |
FCD | SCN5A | – | INa channel | loss of function | [16] | |
IK1 disease | Andersen syndrome | KCNJ2 | Kir2.1 | IK1 channel | – | [17] |
SQT3 | KCNJ2 | Kir2.1 | IK1 channel | gain of function | [18] | |
Ankyrin disease | LQT4 | ANK2 | Ankyrin B | Ankyrin | – | [19] |
Summary of genetic findings in inherited arrhythmogenic diseases. LQT = Long QT syndrome, FAF = familial atrial fibrillation, SQT = short QT syndrome, FCD = familial conduction disease.
Disease . | Disease subtype/classification . | Gene . | Protein . | Ion channel type . | Molecular defect . | Reference . |
---|---|---|---|---|---|---|
IKs disease | LQT1 | KCNQ1 | KvLQT1 | IKs channel (α-subunit) | loss of function | [4] |
LQT5 | KCNE1 | MinK | IKs channel (β-subunit) | loss of function | [5] | |
FAF | KCNQ1 | KvLQT1 | IKs channel (α-subunit) | gain of function | [6–8] | |
SQT2 | KCNQ1 | KvLQT1 | IKs channel (α-subunit) | gain of function | [9] | |
IKr disease | LQT2 | KCNH2 | HERG | IKr channel (α-subunit) | loss of function | [10] |
LQT6 | KCNE2 | MiRP1 | IKr channel (β-subunit) | loss of function | [11] | |
SQT1 | KCNH2 | HERG | IKr channel (α-subunit) | gain of function | [12] | |
INa disease | LQT3 | SCN5A | Nav1.5 | INa channel | gain of function | [13] |
Brugada syndrome | SCN5A | Nav1.5 | INa channel | loss of function | [14,15] | |
FCD | SCN5A | – | INa channel | loss of function | [16] | |
IK1 disease | Andersen syndrome | KCNJ2 | Kir2.1 | IK1 channel | – | [17] |
SQT3 | KCNJ2 | Kir2.1 | IK1 channel | gain of function | [18] | |
Ankyrin disease | LQT4 | ANK2 | Ankyrin B | Ankyrin | – | [19] |
Disease . | Disease subtype/classification . | Gene . | Protein . | Ion channel type . | Molecular defect . | Reference . |
---|---|---|---|---|---|---|
IKs disease | LQT1 | KCNQ1 | KvLQT1 | IKs channel (α-subunit) | loss of function | [4] |
LQT5 | KCNE1 | MinK | IKs channel (β-subunit) | loss of function | [5] | |
FAF | KCNQ1 | KvLQT1 | IKs channel (α-subunit) | gain of function | [6–8] | |
SQT2 | KCNQ1 | KvLQT1 | IKs channel (α-subunit) | gain of function | [9] | |
IKr disease | LQT2 | KCNH2 | HERG | IKr channel (α-subunit) | loss of function | [10] |
LQT6 | KCNE2 | MiRP1 | IKr channel (β-subunit) | loss of function | [11] | |
SQT1 | KCNH2 | HERG | IKr channel (α-subunit) | gain of function | [12] | |
INa disease | LQT3 | SCN5A | Nav1.5 | INa channel | gain of function | [13] |
Brugada syndrome | SCN5A | Nav1.5 | INa channel | loss of function | [14,15] | |
FCD | SCN5A | – | INa channel | loss of function | [16] | |
IK1 disease | Andersen syndrome | KCNJ2 | Kir2.1 | IK1 channel | – | [17] |
SQT3 | KCNJ2 | Kir2.1 | IK1 channel | gain of function | [18] | |
Ankyrin disease | LQT4 | ANK2 | Ankyrin B | Ankyrin | – | [19] |
Summary of genetic findings in inherited arrhythmogenic diseases. LQT = Long QT syndrome, FAF = familial atrial fibrillation, SQT = short QT syndrome, FCD = familial conduction disease.
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