Work related to this thesis is published in: 1. Smith, H. et al. Associations among genotype, clinical phenotype and intracellular localization of trafficking proteins in ARC syndrome. Human Mutation (2012) doi:10.1002/humu.22155 2. Unsworth, A. J., Smith, H., Gissen, P., Watson, S. P. & Pears, C. J. Submaximal inhibition of protein kinase C restores ADP-induced dense granule secretion in platelets in the presence of Ca2+. J. Biol. Chem. 286, 21073–21082 (2011).