Diseases of the nervous system associated with calcium channelopathies

Abstract

The aim of the studies described in this thesis was to investigate how abnormal CaV2.1 channel function can cause disease, in particular motor coordination dysfunction. The chapters illustrate how various neuronal cell types in the periphery (peripheral nervous system) and the central nervous system are affected by mutations in subunits of CaV2.1 channels. Using existing and newly generated mouse models, the consequences of such mutations were investigated at the molecular, cellular, and systems level so as to unravel pathways involved in motor coordination.