. 2021 Mar 10;22(6):2825. doi: 10.3390/ijms22062825

Table 1.

Summary of the findings from published BrS iPSC-CM models. Table represents an overview of the identified gene variants, patient diagnosis, electrophysiological characterization methods used and obtained results. Data shown indicate the most important findings from investigated BrS iPSC-CMs models in comparison to control iPSC-CMs for action potential (AP) (APA—AP amplitude; APD—AP duration, dV/dT—upstroke velocity), sodium current (I_Na) (current density, voltage dependence of activation/inactivation, recovery from inactivation), late sodium current (I_NaL) (current density), calcium current (I_CaL) (current density, activation/inactivation, recovery), potassium currents: I_to, I_Ks and I_Kr (current density), calcium transients (CT) (CTD—CT duration, amplitude, rise rate, decay, presence of early afterdepolarization (EAD)/ delayed afterdepolarization (DAD)/arrhythmias) and field potential duration (FPD) characteristics. Legend: + performed analysis; − not performed analysis; ↑ significant increase/positive shift in voltage dependance; ↓ significant decrease/negative shift in voltage dependance; = no difference in comparison to control iPSC-CMs. BrS—Brugada syndrome; LQTS3/BrS—mixed Brugada syndrome and long-QT syndrome type 3 phenotype; Amp. —amplitude.

Reference	Gene	Variant	Diagnosis	EP Characterization Methods			Electrophysiological Findings
				EP Characterization Methods			AP			I_Na				I_NaL	I_CaL				I_to	I_Ks	I_Kr	CT					FPD
				Patch-Clamping	Ca⁺ Imaging	MEA	APA	APD	dV/dT	Current Density	Voltage Dependance of Activation	Voltage Dependance of Inactivation	Time of Recovery from Inactivation	Current Density	Current Density	Activation	Inactivation	Recovery	Current Density	Current Density	Current Density	CTD	Amp.	Rise Rate	Decay	EAD/ DAD/ Arrhythmias	FPD
Kosmidis et al. 2016 [66]	SCN5A	c.4912C>T (p.R1638X)	BrS	+	−	−	=	=	↓	↓	=	=
Kosmidis et al. 2016 [66]	SCN5A	c.468G>A (p.W156X)	BrS	+	−	−	=	=	↓	↓	=	=
Liang et al. 2016 [67]	SCN5A	c.2053G>A (p.R620H) and c.2626G>A (p.R811H)	BrS	+	+	−	=	=	↓	↓												↑	↓	↓		↑
Liang et al. 2016 [67]	SCN5A	c.4190delA (p.K1397Gfs*5)	BrS	+	+	−	=	=	↓	↓												=	↓	↓		↑
Ma et al. 2018 [68]	SCN5A	c.677C>T (p.A226V) and c.4885C>T (p.R1629X)c.4859C>T	BrS	+	−	−	↓	↑	↓	↓	↓	↓	↑						=
Ma et al. 2018 [68]	SCN5A	p.T1620M	BrS	+	−	−	=	=	↑	=
Selga et al. 2018 [69]	SCN5A	c.1100G>A (p.R367H)	BrS	+	−	−				↓	↑	↓	↓
de la Roche et al. 2019 [56]	SCN5A	c.2204C>T (p.A735V)	BrS	+	−	−	↓	=	↓	↓	↑	↓	=		=				↓
Davis et al. 2012 [70]	SCN5A	c.5537insTGA (p.1795insD)	LQTS3/BrS	+	−	−	=	↑	↓	↓				↑
Okata et al. 2016 [71]	SCN5A	c.5349G>A (p.E1784K)	LQTS3/BrS	+	−	+	=	↑	↓	=	=	↓		↑													↑
El-Battrawy et al. 2019 [72]	SCN10A	c.3749G>A (p.R1250Q) and c.3808G>A (p.R1268Q)	BrS	+	+	−	↓	=	↓	↓	=	=	↓	↓	↓	↑	↓		=	↓	=					↑
El-Battrawy et al. 2019 [73]	SCN1B	c.629T>C (p.L210P) and c.637C>A (p.P213T)	BrS	+	+	−	↓	=	↓	↓	↑	↓	↑	↓	=	=	=	↑	=	↓	↓	=	=	=		↑
Belbachir et al. 2019 [74]	RRAD	p.R211H	BrS	+	+	−	=	↑	↓	↓	=	=	↓	↑	↓							↑			↓	↑
Cerrone et al. 2014 [75]	PKP2	c.1904G>A (R635Q)	BrS	+	−	−				↓
Miller et al. 2017 [76]	Undefined	Undefined	BrS	−	−	+																					=
	Undefined	Undefined	BrS	−	−	+																					=
	PKP2	c.302G>A (p.R101H)	BrS	+	−	+	=	↓	=																		=
Veerman et al. 2016 [55]	Undefined	Undefined	BrS	+	−	−	=	=	=	=	=	=	=
	Undefined	Undefined	BrS				=	=	=	=	=	=	=		=				=
	CACNA1C	int19 position -7 (benign)	BrS				=	=	=	=	=	=	=