Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome

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.