Table 5.
Mutations or rare variants in cardiac ion channel-related genes in SIDS cohorts.
| Study‡ | Size of cohort | Genes tested | Reported mutations or rare variants† |
|---|---|---|---|
| Ackerman et al. [182] | 93 | SCN5A | A997S, R1826H |
|
| |||
| Tester and Ackerman [195] | 93 | KCNQ1 | T600M |
| KCNH2 | |||
| KCNE1 | |||
| KCNE2 | |||
|
| |||
| Wedekind et al. [196] | 41 | SCN5A | — |
| KCNQ1 | |||
| KCNH2 | |||
| KCNE1 | |||
| KCNE2 | |||
|
| |||
| Plant et al. [197] | 133 | SCN5A | S524Y (2 cases), R689H, homozygous S1103Y (3 cases), E1107K |
|
| |||
| Cronk et al. [198] | 134 | CAV3 | V14L, T78M, L79R |
|
| |||
| Arnestad et al. [199] | 201 | SCN5A | S216L, delAL586-587, R680H, R1193Q (2 cases), T1304M, F1486L, V1951L, F2004L (3 cases), P2006A (2 cases) |
| KCNQ1 | |||
| KCNH2 | |||
| KCNE1 | |||
| KCNE2 | |||
| KCNJ2 | |||
| CAV3 | |||
|
| |||
| Tester et al. [200] | 134 | RYR2 | R2267H, S4565R |
|
| |||
| Van Norstrand et al. [201] | 221 | GPD1-L | I124V, R273C |
|
| |||
| Otagiri et al. [202] | 42 | SCN5A | F532C, G1084S, F1705S |
| KCNQ1 | |||
| KCNH2 | |||
|
| |||
| Millat et al. [203] | 32 | SCN5A | Q692K, R975W, S1333Y |
| KCNQ1 | |||
| KCNH2 | |||
| KCNE1 | |||
| KCNE2 | |||
|
| |||
| Cheng et al. [204] | 292 | SNTA1 | G54R, P56S (3 cases), T262P, S287R, T372M, G460S |
|
| |||
| Tan et al. [205] | 292 | SCN1B | — |
| SCN2B | |||
| SCN3B | |||
| SCN4B | |||
|
| |||
| Tester et al. [206] | 292 | KCNJ8 | E332del, V346I |
|
| |||
| Hu et al. [207] | 292 | SCN1Bb | R214Q |
|
| |||
| Van Norstrand et al. [208] | 292 | GJA1 | E42K, S272P |
|
| |||
| Giudicessi et al. [209] | 292 | KCND3 | S530P |
‡Studies in order of (online) publication.
†Functionally significant mutations or rare variants listed in bold.