Table 2 Clinical characteristics of 3 Brugada syndrome patients without SCN5A mutations or SNPs but with de novo mutations

From: Disease-Targeted Sequencing of Ion Channel Genes identifies de novo mutations in Patients with Non-Familial Brugada Syndrome

Patient ID

Gender

Age at diagnosis (years)

Presentation

Circumstance

Family History of SCD

Brugada-type ECG

ICD Treatment

Mutations

BrS4

M

49

SCD

At rest

No

Coved

No

SCNN1A:Arg597*/KCNJ16:Ser261Gly

BrS15

M

56

SCD

Sleeping

No

Coved

Yes

SCNN1A:Arg350Gln/KCNB2:Glu522Lys

BrS3

M

38

Syncope/Seizure

working

No

Coved

Yes

KCNT1:Arg1106Gln

  1. SCD: sudden cardiac death; M: male; ICD: implantable cardioverter defibrillator; ECG, electrocardiogram.
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