The clinical and electrophysiological spectrum of cardiac sodium channel mutations

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Titlepage

CONTENTS

CHAPTER 1 GENERAL INTRODUCTION THE VOLTAGE GATED CARDIAC SODIUM CHANNEL

CHAPTER 2.1. MECHANISMS OF INHERITED CARDIAC CONDUCTION DISEASE

CHAPTER 2.2. CARDIAC CONDUCTION DISEASE CAUSED BY A REDUCTION OF MEMBRANE SODIUM CHANNEL EXPRESSION

CHAPTER 3.1. THE BRUGADA SYNDROME

CHAPTER 3.2. GENOTYPE-PHENOTYPE RELATIONSHIP IN BRUGADA SYNDROME

CHAPTER 3.3. GENOTYPE-PHENOTYPE RELATIONSHIP IN BRUGADA SYNDROME: ELECTROCARDIOGRAPHIC FEATURES DIFFERENTIATE SCN5A-RELATED PATIENTS FROM NON-SCN5A RELATED PATIENTS

CHAPTER 3.4. A MUTATION IN THE HUMAN CARDIAC SODIUM CHANNEL ASSOCIATES WITH SICK SINUS SYNDROME, CONDUCTION DISEASE AND BRUGADA SYNDROME

CHAPTER 4.1. THE LONG QT SYNDROME

CHAPTER 4.2. DE NOVO MUTATION THE SCN5A GENE ASSOCIATES WITH EARLY ONSET OF SUDDEN INFANT DEATH

CHAPTER 4.3. SUBSTITUTION OF A CONSERVED ALANINE IN THE DOMAIN IIIS4-S5 LINKER OF THE HUMAN CARDIAC SODIUM CHANNEL CAUSES LONG QT SYNDROME

CHAPTER 4.4. CONFORMATIONAL CHANGES IN THE C-TERMINUS OF THE CARDIAC SODIUM CHANNEL INFLUENCES CHANNEL INACTIVATION

CHAPTER 5 SUMMARY / SAMENVATTING

DANKWOORD

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