Genetic basis of cardiac ion channel diseases

Thesis

Cover

Contents

Chapter 1: Introduction. Ion channels involved in genetic cardiac arrhythmias

Chapter 2: Voltage-gated sodium channels: action players with many faces

Chapter 3: A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families

Chapter 4: A common sodium channel promoter haplotype in Asian subjects underlies variability in cardiac conduction

Chapter 5: Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity

Chapter 6: Sodium channel β1-subunit mutations associated with Brugada syndrome and cardiac conduction disease

Chapter 7: Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort

Chapter 8: Long QT Syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by the PCR-based exon-scanning methodologies employed to date

The intrinsic complexity and future perspectives of genetic research

Summary / Samenvatting

Dankwoord

List of publications