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- W2121866513 endingPage "1685" @default.
- W2121866513 startingPage "1679" @default.
- W2121866513 abstract "Ion channels are part of a large family of macromolecules whose functions include the control and maintenance of electrical potential across cell membranes, secretion and signal transduction. Close inspection of the physiological processes involved in channel function and the secondary structure of various ion channels has served as a basis for subdividing ion channels into a number of superfamilies. The voltage-gated ion channels are one of these superfamilies. Recent work has shown that mutations in various ion channel genes are responsible for a number of neuromuscular and neurological disorders. Correlation of the various mutations with the clinical phenotype is providing us with insight into the pathophysiology of these channel proteins. Interestingly, different mutations within the same gene may cause quite distinct clinical disorders, while mutations in different channel genes may result in very similar phenotypes (genetic heterogeneity). Examples of phenotypic variation and genetic heterogeneity are presented in the context of the periodic paralytic disorders of skeletal muscle, episodic ataxia, migraine, long QT syndrome and paroxysmal dyskinesia. Some of these disorders are known to be caused by mutations in ion channel genes, while in the episodic movement disorders, ion channel genes are considered excellent candidate genes." @default.
- W2121866513 created "2016-06-24" @default.
- W2121866513 creator A5056775376 @default.
- W2121866513 date "1997-09-01" @default.
- W2121866513 modified "2023-10-18" @default.
- W2121866513 title "Phenotype variation and newcomers in ion channel disorders" @default.
- W2121866513 cites W1482047668 @default.
- W2121866513 cites W1494587618 @default.
- W2121866513 cites W1516400852 @default.
- W2121866513 cites W1521731378 @default.
- W2121866513 cites W1567957697 @default.
- W2121866513 cites W1569803753 @default.
- W2121866513 cites W1578096869 @default.
- W2121866513 cites W1780278526 @default.
- W2121866513 cites W1964441774 @default.
- W2121866513 cites W1966367605 @default.
- W2121866513 cites W1975768173 @default.
- W2121866513 cites W1978145596 @default.
- W2121866513 cites W1986804214 @default.
- W2121866513 cites W1991662012 @default.
- W2121866513 cites W1992425031 @default.
- W2121866513 cites W1998170319 @default.
- W2121866513 cites W1999000941 @default.
- W2121866513 cites W2000134487 @default.
- W2121866513 cites W2012808111 @default.
- W2121866513 cites W2014346502 @default.
- W2121866513 cites W2017810117 @default.
- W2121866513 cites W2019553521 @default.
- W2121866513 cites W2022414157 @default.
- W2121866513 cites W2025197615 @default.
- W2121866513 cites W2025901527 @default.
- W2121866513 cites W2027382423 @default.
- W2121866513 cites W2032950588 @default.
- W2121866513 cites W2034169322 @default.
- W2121866513 cites W2036194714 @default.
- W2121866513 cites W2038121589 @default.
- W2121866513 cites W2038752660 @default.
- W2121866513 cites W2039286456 @default.
- W2121866513 cites W2040456165 @default.
- W2121866513 cites W2040778655 @default.
- W2121866513 cites W2042048113 @default.
- W2121866513 cites W2047855450 @default.
- W2121866513 cites W2050757105 @default.
- W2121866513 cites W2051789222 @default.
- W2121866513 cites W2054172961 @default.
- W2121866513 cites W2055632081 @default.
- W2121866513 cites W2060835899 @default.
- W2121866513 cites W2062933575 @default.
- W2121866513 cites W2064551580 @default.
- W2121866513 cites W2072707122 @default.
- W2121866513 cites W2074705578 @default.
- W2121866513 cites W2081980989 @default.
- W2121866513 cites W2084163751 @default.
- W2121866513 cites W2084235009 @default.
- W2121866513 cites W2092347528 @default.
- W2121866513 cites W2093214695 @default.
- W2121866513 cites W2095786401 @default.
- W2121866513 cites W2097022235 @default.
- W2121866513 cites W2097498323 @default.
- W2121866513 cites W2100741949 @default.
- W2121866513 cites W2101436406 @default.
- W2121866513 cites W2102559498 @default.
- W2121866513 cites W2106903149 @default.
- W2121866513 cites W2119278180 @default.
- W2121866513 cites W2129205954 @default.
- W2121866513 cites W2130234511 @default.
- W2121866513 cites W2134217426 @default.
- W2121866513 cites W2137422943 @default.
- W2121866513 cites W2138416238 @default.
- W2121866513 cites W2139528954 @default.
- W2121866513 cites W2142980147 @default.
- W2121866513 cites W2143319028 @default.
- W2121866513 cites W2153907158 @default.
- W2121866513 cites W2155578952 @default.
- W2121866513 cites W2165877600 @default.
- W2121866513 cites W2166639546 @default.
- W2121866513 cites W2170547714 @default.
- W2121866513 cites W2319826148 @default.
- W2121866513 cites W2327690082 @default.
- W2121866513 cites W2341895029 @default.
- W2121866513 cites W2395616454 @default.
- W2121866513 cites W2401646557 @default.
- W2121866513 cites W2406133798 @default.
- W2121866513 cites W2412192029 @default.
- W2121866513 cites W2628074563 @default.
- W2121866513 cites W3146600623 @default.
- W2121866513 cites W3163013639 @default.
- W2121866513 cites W2481333102 @default.
- W2121866513 doi "https://doi.org/10.1093/hmg/6.10.1679" @default.
- W2121866513 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9300659" @default.
- W2121866513 hasPublicationYear "1997" @default.
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