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Understanding gained from early studies on the pathogenesis of a group of muscle diseases that are similar in their episodic nature (periodic paralysis) showed that these disorders result from mutations in a gene encoding a voltage gated Na<jats:sup>+<\/jats:sup> channel. Their characterisation as channelopathies has served as a paradigm for other episodic disorders. For example, migraine headache and some forms of epilepsy have been shown to result from mutations in voltage gated Ca<jats:sup>2+<\/jats:sup>channel genes, while long QT syndrome is known to result from mutations in either K<jats:sup>+<\/jats:sup> or Na<jats:sup>+<\/jats:sup> channel genes. This article reviews progress made in the complementary fields of molecular genetics and cellular electrophysiology which has led to a better understanding of voltage gated ion channelopathies in humans and mice.<\/jats:p>","DOI":"10.1136\/jmg.37.10.729","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:37:59Z","timestamp":1027751879000},"page":"729-740","source":"Crossref","is-referenced-by-count":44,"title":["Channelopathies: ion channel defects linked to heritable clinical disorders"],"prefix":"10.1136","volume":"37","author":[{"given":"Ricardo","family":"Felix","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2000,10,1]]},"reference":[{"key":"2025101713591227000_37.10.729.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80981-2"},{"key":"2025101713591227000_37.10.729.2","unstructured":"Hille B (1991) Ionic channels of excitable membranes. 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