Voltage-gated ion channels and hereditary disease

By the introduction of technological advancement in methods of structural a nalysis, electronics, and recombinant DNA techniques, research in physiolog y has become molecular. Additionally, focus of interest has been moving awa y from classical physiology to become increasingly centered on mechanisms o f disease. A wonderful example for this development, as evident by this rev iew, is the field of ion channel research which would not be nearly as adva nced had it not been for human diseases to clarify. It is for this reason t hat structure-function relationships and ion channel electrophysiology cann ot be separated from the genetic and clinical description of ion channelopa thies. Unique among reviews of this topic is that all known human hereditar y diseases of voltage-gated ion channels are described covering various fie lds of medicine such as neurology (nocturnal frontal lobe epilepsy, benign neonatal convulsions, episodic ataxia, hemiplegic migraine, deafness, stati onary night blindness), nephrology (X-linked recessive nephrolithiasis, Bar tter), myology (hypokalemic and hyperkalemic periodic paralysis, myotonia c ongenita, paramyotonia, malignant hyperthermia), cardiology (LQT syndrome), and interesting parallels in mechanisms of disease emphasized. Likewise, a ll types of voltage-gated ion channels for cations (sodium, calcium, and po tassium channels) and anions (chloride channels) are described together wit h all knowledge about pharmacology, structure, expression, isoforms, and en coding genes.