Table 5: Mutations or rare variants in cardiac ion channel-related genes in SIDS cohorts.

StudySize of cohortGenes testedReported mutations or rare variants

Ackerman et al. [182]93SCN5A A997S, R1826H

Tester and Ackerman [195] 93KCNQ1 T600M
KCNH2
KCNE1
KCNE2

Wedekind et al. [196] 41SCN5A
KCNQ1
KCNH2
KCNE1
KCNE2

Plant et al. [197]133SCN5A S524Y (2 cases), R689H, homozygous S1103Y (3 cases), E1107K

Cronk et al. [198]134CAV3 V14L, T78M, L79R

Arnestad et al. [199] 201SCN5A 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]134RYR2 R2267H, S4565R

Van Norstrand et al. [201]221GPD1-L I124V, R273C

Otagiri et al. [202] 42SCN5A F532C, G1084S, F1705S
KCNQ1
KCNH2

Millat et al. [203] 32SCN5A Q692K, R975W, S1333Y
KCNQ1
KCNH2
KCNE1
KCNE2

Cheng et al. [204]292SNTA1 G54R, P56S (3 cases), T262P, S287R, T372M, G460S

Tan et al. [205] 292SCN1B
SCN2B
SCN3B
SCN4B

Tester et al. [206]292KCNJ8 E332del, V346I

Hu et al. [207]292SCN1Bb R214Q

Van Norstrand et al. [208]292GJA1 E42K, S272P

Giudicessi et al. [209]292KCND3 S530P

Studies in order of (online) publication.
Functionally significant mutations or rare variants listed in bold.