Ion channels: function unravelled by dysfunction

Ion channels allow the passage of specific ions and electrical charge. Plasma membrane channels are, for example, important for electrical excitability and transepithelial transport, whereas intracellular channels have roles in acidifying endosomes or in releasing Ca(2+) from stores. The function of several channels emerged from mutations in humans or mice. The resulting phenotypes include kidney stones resulting from impaired endocytosis, hypertension, defective insulin secretion, cardiac arrhythmias, neurological diseases like epilepsy or deafness and even 'developmental' defects such as osteopetrosis