346: channelopathies
(4-17-07)

Voltage-gated sodium and potassium channels are proteins; they span the width of the cell membrane and cantain a fluid-filled pathway, the ion pore, through which ions pass. Ion channels are present in every cell of the body, not only neurons. In 2003, 51 years after ionic hypothesis formulated by Hodgkin and Huxley (Nobel prize for physio/med in 1963), Roderick MacKinnon received Nobel prize in chemistry for first 3D picture of atoms that form the protein of two ion channels, a non-gated potassium channel and a voltage-gated potassium channel.

Mutations in the genes that code for ion channel proteins lead to diseases referred to as "channelopathies, or disorders of ion channel function. "Familial ideopathic epilepsy", an inherited epilepsy of newborns, has been found to be associated with mutations in genes coding for a potassium channel.