International Scholarly Research Notices

Review Article

Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome

Table 2

Genes linked to Brugada syndrome.


Type	OMIM	Gene	Protein	Functional role in cardiomyocytes	Effect of mutation

			Autosomal dominant inheritance

BrS1	#601144	SCN5A	Na_v1.5	α subunit of channel	Loss of function of
BrS2	#611777	GPD1-L	G3PD1L	Not fully established	Loss of function of
BrS3	#611875	CACNA1C	Ca_v1.2	subunit of channel	Loss of function of
BrS4	#611876	CACNB2b	Ca_vβ2b	subunit of channel	Loss of function of
BrS5	#612838	SCN1B	Na_vβ1	β subunit of channel	Loss of function of
BrS6	#613119	KCNE3	KCNE3 (MiRP2)	β subunit of voltage-dependent K⁺ channels	Gain of function of
BrS7	#613120	SCN3B	Na_vβ3	β subunit of channel	Loss of function of
NC	#613123	HCN4	HCN4	α subunit of channel	Gain of function of
NC	—	CACNA2D1	Ca_vα ₂δ-1	α ₂δ subunit of channel	Loss of function of
NC	—	MOG1	MOG1	Regulates trafficking of Na_v1.5 to the membrane	Loss of function of
NC	—	KCND3	K_v4.3	α subunit of channel	Gain of function of
NC	—	KCNE1L (KCNE5)	KCNE1L	β subunit of voltage-dependent K⁺ channels	Gain of function of
NC	—	KCNJ8	K_ir6.1	α subunit of channel	Gain of function of
NC	—	SCN1Bb	Na_vβ1B	β subunit of channel	Loss of function of and gain of function of

OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; BrS1–BrS7: Brugada syndrome types 1–7; NC: no consensus; : L-type calcium current; : hyperpolarization-activated current; : ATP-sensitive potassium current; : fast sodium current; : transient outward potassium current.