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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 3.

Ion Channels and Associated Brugada Syndrome Phenotype Designations, Genes, and Proteins

ChannelPhenotype Designation 1GeneCommon Protein Names
SodiumBrS 1 SCN5A Nav1.5
BrS 2 GPD1L Glycerol-3-P-DH-1
BrS 5 SCN1B Navb1
BrS 7 SCN3B Navb3
BrS 16 SCN2B Navb2
Sodium-relatedBrS 10 RANGRF RAN-G-release factor
BrS 14 SLMAP Sarcolemma-assoc protein
PotassiumBrS 6 KCNE3 MiRP2
BrS 8 KCNJ8 Kv6.1
BrS 9 HCN4 Hyperpolarization cyclic nucleotide-gated 4
BrS 11 KCNE5 Potassium voltage-gated channel subfamily E member 1-like
BrS 12 KCND3 Kv4.3 Kir4.3
CalciumBrS 3 & shorter QT CACNA1C Cav1.2
BrS 4 & shorter QT CACNB2 Voltage-dependent b-2
BrS 13 CACNA2D1 Voltage-dependent a2/d1
BrS 15 TRPM4 Transient receptor potential M4

BrS = Brugada syndrome

1.

Author, personal communication

From: Brugada Syndrome

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