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. 2023 Nov 28;13(23):3551. doi: 10.3390/diagnostics13233551

Table 2.

Genetic mutations are identified in the primary electrical diseases [1,4,5,6]. GOF, gain of function; LOF, loss of function.

Protein Gene Disease
Na channels SCN5A Long QT3 (GOF)
Brugada syndrome (LOF)
K channels KCNQ1 Long QT1 (LOF)
Short QT2 (GOF)
KCNH2 Long QT2 (LOF)
Short QT1 (GOF)
KCNJ2 Andersen–Tawil syndrome (LOF)
Short QT3 (GOF)
DPP6/Kv4.x Idiopathic familial ventricular fibrillation (GOF)
Ca channels CACNA1C Brugada syndrome (LOF)
Timothy syndrome (GOF)
RYR2 Catecholaminergic polymorphic VT (GOF)
Calcium release deficiency syndrome (LOF)
Exon 3 deletion syndrome
Regulatory proteins CASQ2 Catecholaminergic polymorphic VT (LOF)
CALM Long QTS (GOF)
Catecholaminergic polymorphic VT (LOF)
Idiopathic ventricular fibrillation