Brugada syndrome is characterized by familial association of idiopathic ventricular arrhythmia and resulting sudden death. We previously reported the clinical characteristics of this syndrome in a Korean population. However, the underlying genetic background in Korean subjects with this syndrome has not been studied. We recruited 15 Korean probands (M : F = 11 : 4, mean 42 yrs old) with documented ventricular tachyarrhythmias for this study. All subjects had family history of premature sudden death. Nine probands were clinically confirmed as Brugada syndrome through the provocation test. Eleven patients underwent ICD implantation and received at least one episode of defibrillation therapy during follow-up. In order to characterize the underlying gene abnormality, we performed genetic screening of alpha subunit of SCN5A, a major sodium pump expressed in cardiomyocytes. Full nucleotide (nt) sequences of all 28 exons together with at least 10 intron nt sequences of each exon-intron junctions were amplified from genomic DNA by PCR with 51 pair of specific primers and were read through bi-directional way using automatic sequence analyser. We found 2 missense mutations and 3 single nucleotide polymorphisms (SNP). Two missense mutations, G292S in exon 7 (n=1, DI S5 - DI S6) and W1094C in exon 18 (n=1, DII-DIII), were found to be novel mutations. All SNPs found in this study, A29A in exon 2 (n=9), H558R in exon 12 (n=4) and D1818D (n=5), had been previously reported in Japanese population. Otherwise, no large deletions in SCN5A gene or mutations in intron sequences were found in the present study. The existence of novel missense mutations in SCN5A gene suggests the unique genetic background in Korean subjects with Brugada syndrome. Additional genetic screening of the first-degree relatives and estimation of functional relevance of those mutations are to be studied.