{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T22:45:40Z","timestamp":1789771540970,"version":"4.0.1"},"edition-number":"1","reference-count":286,"publisher":"Wiley","isbn-type":[{"value":"9780470650714","type":"electronic"}],"license":[{"start":{"date-parts":[[2015,3,16]],"date-time":"2015-03-16T00:00:00Z","timestamp":1426464000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Familial disorders of skeletal muscle excitability were initially described early in the last century and are now known to be caused by mutations of voltage\u2010gated ion channels. The clinical manifestations are often striking, with an inability to relax after voluntary contraction (myotonia) or transient attacks of severe weakness (periodic paralysis). An essential feature of these disorders is fluctuation of symptoms that are strongly impacted by environmental triggers such as exercise, temperature, or serum K\n                    <jats:sup>+<\/jats:sup>\n                    levels. These phenomena have intrigued physiologists for decades, and in the past 25 years the molecular lesions underlying these disorders have been identified and mechanistic studies are providing insights for therapeutic strategies of disease modification. These familial disorders of muscle fiber excitability are \u201cchannelopathies\u201d caused by mutations of a chloride channel (ClC\u20101), sodium channel (Na\n                    <jats:sub>V<\/jats:sub>\n                    1.4), calcium channel (Ca\n                    <jats:sub>V<\/jats:sub>\n                    1.1), and several potassium channels (Kir2.1, Kir2.6, and Kir3.4). This review provides a synthesis of the mechanistic connections between functional defects of mutant ion channels, their impact on muscle excitability, how these changes cause clinical phenotypes, and approaches toward therapeutics. \u00a9 2015 American Physiological Society.\n                    <jats:italic>Compr Physiol<\/jats:italic>\n                    5:761\u2010790, 2015.\n                  <\/jats:p>","DOI":"10.1002\/cphy.c140062","type":"other","created":{"date-parts":[[2015,3,16]],"date-time":"2015-03-16T23:19:37Z","timestamp":1426547977000},"page":"761-790","source":"Crossref","is-referenced-by-count":165,"title":["Channelopathies of Skeletal Muscle Excitability"],"prefix":"10.1002","author":[{"given":"Stephen C.","family":"Cannon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1974.sp010620"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1969.sp008910"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1976.sp011410"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1973.sp010380"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1989.sp017582"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20865"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2728(72)90194-6"},{"key":"e_1_2_9_9_1","article-title":"Defective fast inactivation recovery of NaV1.4 in congenital myasthenic syndrome","author":"Arnold WD","journal-title":"Ann Neurol"},{"key":"e_1_2_9_10_1","volume-title":"Ion Channels and Diseasse","author":"Ashcroft FM","year":"2000"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2012.09.007"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpj.2013.03.035"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1983.tb13580.x"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.75.103004.142622"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.20.11248"},{"key":"e_1_2_9_16_1","first-page":"455","article-title":"Zur Frage der Heterogenie der erblichen Myotonien","volume":"28","author":"Becker P","year":"1957","journal-title":"Nervenarzt"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.8.1266"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M502890200"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00313264"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.107.6.2587"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90154-5"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/62.4.341"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00372958"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.9.1932"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10298"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-41588-3_4"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.00914.x"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00007-X"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.29.051605.112815"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2010.186874"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(91)90064-7"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(93)81045-2"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1993.sp019731"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(93)90321-H"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)81133-2"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1113\/expphysiol.2013.071969"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.303.6810.1096"},{"key":"e_1_2_9_38_1","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1007\/BF00410190","article-title":"Modulation of Na+ channel inactivation by the \u03b21 subunit: a deletion analysis","volume":"431","author":"Chen CF","journal-title":"Pflugers Archiv"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1965.00460260055007"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.249656"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0403485101"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.201210892"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.201010586"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20295"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-81-3-332"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.1998.551bn.x"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/0013-4694(63)90071-3"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(96)79219-6"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(93)90168-Q"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.170597"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000178888.03767.74"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.2174\/1874609811104030248"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00228-012-1414-3"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2013.07.018"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00232-005-0825-9"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.201010496"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2009.172148"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000072261.14060.47"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.2.352"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01869290"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1973.sp010350"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2007.144667"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1038\/415287a"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20585"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.53.3.279"},{"issue":"2","key":"e_1_2_9_66_1","first-page":"374","article-title":"Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): Genotype\/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families","volume":"56","author":"Elbaz A","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1119207109"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1018380108"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(65)90138-5"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1101"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.109.1.93"},{"key":"e_1_2_9_72_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90050-0"},{"key":"e_1_2_9_73_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.1998.627bv.x"},{"key":"e_1_2_9_74_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0072-9752(07)86004-0"},{"key":"e_1_2_9_75_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00012-5"},{"key":"e_1_2_9_76_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2173143"},{"key":"e_1_2_9_77_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20241"},{"issue":"9","key":"e_1_2_9_78_1","article-title":"Acetazolamide protects against K\u2010induced weakness in a mouse model of HyperPP","volume":"58","author":"Francis D","year":"2005","journal-title":"Ann Neurol"},{"key":"e_1_2_9_79_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318219fb57"},{"key":"e_1_2_9_80_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2010.199430"},{"key":"e_1_2_9_81_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410040411"},{"key":"e_1_2_9_82_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1983.sp014552"},{"key":"e_1_2_9_83_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32141"},{"key":"e_1_2_9_84_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.2.554"},{"key":"e_1_2_9_85_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI25505"},{"key":"e_1_2_9_86_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310203"},{"issue":"11","key":"e_1_2_9_87_1","first-page":"2071","article-title":"Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita","volume":"3","author":"George AL","year":"1994","journal-title":"Hum Mol Genet"},{"key":"e_1_2_9_88_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2001.013298"},{"key":"e_1_2_9_89_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1971.sp009356"},{"key":"e_1_2_9_90_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880130513"},{"key":"e_1_2_9_91_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.1998.685bj.x"},{"key":"e_1_2_9_92_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.24.13961"},{"key":"e_1_2_9_93_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu015"},{"key":"e_1_2_9_94_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.16.9035"},{"key":"e_1_2_9_95_1","first-page":"1039","volume-title":"Myology","author":"Harper PS","year":"2004"},{"key":"e_1_2_9_96_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.107.5.559"},{"key":"e_1_2_9_97_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(97)78768-X"},{"issue":"4","key":"e_1_2_9_98_1","first-page":"1437","article-title":"Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium\u2010sensitive weakness","volume":"118","author":"Hayward LJ","year":"2008","journal-title":"J Clin Invest"},{"key":"e_1_2_9_99_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.7.1447"},{"key":"e_1_2_9_100_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23683"},{"key":"e_1_2_9_101_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.9.1349"},{"key":"e_1_2_9_102_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00021.2009"},{"key":"e_1_2_9_103_1","first-page":"814","volume-title":"Ion Channels of Excitable Membranes","author":"Hille B","year":"2001"},{"key":"e_1_2_9_104_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1959.sp006278"},{"key":"e_1_2_9_105_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.46.1.431"},{"key":"e_1_2_9_106_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/93.3.445"},{"key":"e_1_2_9_107_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31828cf8d0"},{"key":"e_1_2_9_108_1","doi-asserted-by":"publisher","DOI":"10.1177\/107385840100700108"},{"key":"e_1_2_9_109_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880151002"},{"key":"e_1_2_9_110_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1976.tb04790.x"},{"key":"e_1_2_9_111_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1977.tb01457.x"},{"key":"e_1_2_9_112_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10974-006-9088-z"},{"key":"e_1_2_9_113_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-010-0814-4"},{"key":"e_1_2_9_114_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI25525"},{"key":"e_1_2_9_115_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nurt.2007.02.001"},{"key":"e_1_2_9_116_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1415"},{"key":"e_1_2_9_117_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.17.9549"},{"key":"e_1_2_9_118_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0811277106"},{"key":"e_1_2_9_119_1","doi-asserted-by":"publisher","DOI":"10.1006\/mcne.1997.0655"},{"key":"e_1_2_9_120_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(96)00429-4"},{"issue":"2","key":"e_1_2_9_121_1","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1002\/cphy.c110029","article-title":"Skeletal muscle fatigue","volume":"2","author":"Kent\u2010Braun JA","year":"2012","journal-title":"Compr Physiol"},{"key":"e_1_2_9_122_1","volume-title":"Electrodiagnosis in Diseases of Nerve and Muscle","author":"Kimura J","year":"1989"},{"issue":"44","key":"e_1_2_9_123_1","doi-asserted-by":"crossref","first-page":"27635","DOI":"10.1016\/S0021-9258(18)47032-9","article-title":"Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC\u20101. A study on normal and myotonic muscle","volume":"269","author":"Klocke R","year":"1994","journal-title":"J Biol Chem"},{"key":"e_1_2_9_124_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1379744"},{"key":"e_1_2_9_125_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000239"},{"key":"e_1_2_9_126_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpregu.00534.2004"},{"key":"e_1_2_9_127_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1748-1716.2009.02043.x"},{"key":"e_1_2_9_128_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.11.1753"},{"key":"e_1_2_9_129_1","doi-asserted-by":"publisher","DOI":"10.1038\/362127a0"},{"key":"e_1_2_9_130_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21501"},{"issue":"4","key":"e_1_2_9_131_1","first-page":"461","article-title":"Familial thyrotoxic periodic paralysis","volume":"150","author":"Kufs WM","year":"1989","journal-title":"West J Med"},{"key":"e_1_2_9_132_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-007-0225-3"},{"key":"e_1_2_9_133_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.104.2697.221"},{"key":"e_1_2_9_134_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.24.10.949"},{"key":"e_1_2_9_135_1","first-page":"1303","volume-title":"Myology","author":"Lehmann\u2010Horn F","year":"1994"},{"key":"e_1_2_9_136_1","doi-asserted-by":"publisher","DOI":"10.1093\/bja\/65.5.692"},{"key":"e_1_2_9_137_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1999.79.4.1317"},{"key":"e_1_2_9_138_1","first-page":"98","article-title":"Diagnostics and therapy of muscle channelopathies\u2014Guidelines of the Ulm Muscle Centre","volume":"27","author":"Lehmann\u2010Horn F","year":"2008","journal-title":"Acta Myol"},{"key":"e_1_2_9_139_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880040508"},{"key":"e_1_2_9_140_1","first-page":"1257","volume-title":"Myology","author":"Lehmann\u2010Horn F","year":"2004"},{"key":"e_1_2_9_141_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880060206"},{"key":"e_1_2_9_142_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1993.sp019843"},{"key":"e_1_2_9_143_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(94)90049-3"},{"key":"e_1_2_9_144_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.50.1.89"},{"key":"e_1_2_9_145_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106703"},{"key":"e_1_2_9_146_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1062125"},{"key":"e_1_2_9_147_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.8.810"},{"key":"e_1_2_9_148_1","doi-asserted-by":"publisher","DOI":"10.1038\/372366a0"},{"key":"e_1_2_9_149_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.6.941"},{"key":"e_1_2_9_150_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-2660(08)01002-X"},{"key":"e_1_2_9_151_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00336.2006"},{"key":"e_1_2_9_152_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.201010526"},{"issue":"3","key":"e_1_2_9_153_1","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1523\/JNEUROSCI.13-03-01326.1993","article-title":"Aggregation of sodium channels during development and maturation of the neuromuscular junction","volume":"13","author":"Lupa MT","year":"1993","journal-title":"J Neurosci"},{"key":"e_1_2_9_154_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1589759"},{"key":"e_1_2_9_155_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(02)00563-4"},{"key":"e_1_2_9_156_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20068"},{"key":"e_1_2_9_157_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp294"},{"key":"e_1_2_9_158_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2009.186627"},{"key":"e_1_2_9_159_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000342387.65477.46"},{"key":"e_1_2_9_160_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31823a0cb6"},{"key":"e_1_2_9_161_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000287069.21162.94"},{"key":"e_1_2_9_162_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1092-148"},{"key":"e_1_2_9_163_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5538.451"},{"key":"e_1_2_9_164_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880090805"},{"key":"e_1_2_9_165_1","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4157(94)00014-5"},{"issue":"6","key":"e_1_2_9_166_1","first-page":"1325","article-title":"Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia","volume":"57","author":"Meyer\u2010Kleine C","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_167_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.201411199"},{"key":"e_1_2_9_168_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000143383.91137.00"},{"key":"e_1_2_9_169_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1995.sp020864"},{"key":"e_1_2_9_170_1","doi-asserted-by":"publisher","DOI":"10.1086\/515454"},{"issue":"24","key":"e_1_2_9_171_1","doi-asserted-by":"crossref","first-page":"10320","DOI":"10.1523\/JNEUROSCI.18-24-10320.1998","article-title":"Gating of the L\u2010type Ca channel in human skeletal myotubes: An activation defect caused by the hypokalemic periodic paralysis mutation R528H","volume":"18","author":"Morrill JA","year":"1998","journal-title":"J Neurosci"},{"key":"e_1_2_9_172_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.1999.00321.x"},{"issue":"3","key":"e_1_2_9_173_1","doi-asserted-by":"crossref","first-page":"340","DOI":"10.2460\/javma.1992.200.03.340","article-title":"Familial incidence of hyperkalemic periodic paralysis in quarter horses","volume":"200","author":"Naylor JM","year":"1992","journal-title":"J Am Vet Med Assoc"},{"key":"e_1_2_9_174_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199205000-00001"},{"key":"e_1_2_9_175_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.69.3.325"},{"key":"e_1_2_9_176_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20922"},{"key":"e_1_2_9_177_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.2.297"},{"key":"e_1_2_9_178_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2475-09.2009"},{"key":"e_1_2_9_179_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.25.3.209"},{"key":"e_1_2_9_180_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/87.2.341"},{"key":"e_1_2_9_181_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.200409173"},{"key":"e_1_2_9_182_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.200910290"},{"key":"e_1_2_9_183_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.200910291"},{"key":"e_1_2_9_184_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5364.737"},{"key":"e_1_2_9_185_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00008.2010"},{"key":"e_1_2_9_186_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00342-7"},{"key":"e_1_2_9_187_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.102609499"},{"key":"e_1_2_9_188_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(92)90203-P"},{"key":"e_1_2_9_189_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90374-8"},{"key":"e_1_2_9_190_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90135-X"},{"key":"e_1_2_9_191_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10063"},{"key":"e_1_2_9_192_1","doi-asserted-by":"publisher","DOI":"10.1038\/373527a0"},{"key":"e_1_2_9_193_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(94)80753-2"},{"key":"e_1_2_9_194_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90023-3"},{"key":"e_1_2_9_195_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21693"},{"key":"e_1_2_9_196_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e32833cc97e"},{"key":"e_1_2_9_197_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(69)90178-8"},{"key":"e_1_2_9_198_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(99)00926-6"},{"key":"e_1_2_9_199_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(97)78220-1"},{"key":"e_1_2_9_200_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00312881"},{"key":"e_1_2_9_201_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00312810"},{"key":"e_1_2_9_202_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1990.00530030034012"},{"key":"e_1_2_9_203_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1994.00540230033009"},{"key":"e_1_2_9_204_1","doi-asserted-by":"publisher","DOI":"10.1038\/325717a0"},{"key":"e_1_2_9_205_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20356"},{"key":"e_1_2_9_206_1","doi-asserted-by":"publisher","DOI":"10.1038\/354387a0"},{"key":"e_1_2_9_207_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00313157"},{"issue":"2","key":"e_1_2_9_208_1","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1152\/physrev.1985.65.2.310","article-title":"Membrane changes in cells from myotonia patients","volume":"65","author":"R\u00fcdel R","year":"1985","journal-title":"Physiol Rev"},{"key":"e_1_2_9_209_1","first-page":"1291","volume-title":"Myology","author":"R\u00fcdel R","year":"1994"},{"key":"e_1_2_9_210_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880070205"},{"key":"e_1_2_9_211_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880110303"},{"key":"e_1_2_9_212_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1092-144"},{"key":"e_1_2_9_213_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1978.sp012485"},{"issue":"1","key":"e_1_2_9_214_1","doi-asserted-by":"crossref","first-page":"C229","DOI":"10.1152\/ajpcell.1992.262.1.C229","article-title":"Na current density at and away from end plates on rat fast\u2010 and slow\u2010twitch skeletal muscle fibers","volume":"262","author":"Ruff RL","year":"1992","journal-title":"AM J Physiol"},{"key":"e_1_2_9_215_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(94)80807-0"},{"key":"e_1_2_9_216_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.7.1556"},{"key":"e_1_2_9_217_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880110514"},{"key":"e_1_2_9_218_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1992.sp019407"},{"key":"e_1_2_9_219_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.12.024"},{"key":"e_1_2_9_220_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1996.sp021778"},{"key":"e_1_2_9_221_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00519.2008"},{"key":"e_1_2_9_222_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420306"},{"issue":"1","key":"e_1_2_9_223_1","first-page":"CD005045","article-title":"Treatment for periodic paralysis","author":"Sansone V","year":"2008","journal-title":"Cochrane Database Syst Rev"},{"key":"e_1_2_9_224_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.113.3.457"},{"key":"e_1_2_9_225_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.11-189126"},{"key":"e_1_2_9_226_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1992.sp019066"},{"key":"e_1_2_9_227_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4886(61)90006-1"},{"key":"e_1_2_9_228_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1991.sp018485"},{"key":"e_1_2_9_229_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.03.009"},{"key":"e_1_2_9_230_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05598"},{"key":"e_1_2_9_231_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0810562105"},{"key":"e_1_2_9_232_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(01)02136-6"},{"key":"e_1_2_9_233_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.117.5.469"},{"key":"e_1_2_9_234_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80422-5"},{"key":"e_1_2_9_235_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2012.12607"},{"issue":"3","key":"e_1_2_9_236_1","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1002\/cphy.c110038","article-title":"Cell biology and physiology of CLC chloride channels and transporters","volume":"2","author":"Stauber T","year":"2012","journal-title":"Compr Physiol"},{"key":"e_1_2_9_237_1","doi-asserted-by":"publisher","DOI":"10.1038\/354304a0"},{"key":"e_1_2_9_238_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1994.tb06315.x"},{"key":"e_1_2_9_239_1","doi-asserted-by":"publisher","DOI":"10.1038\/354301a0"},{"key":"e_1_2_9_240_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.6.1091"},{"key":"e_1_2_9_241_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(96)79446-8"},{"key":"e_1_2_9_242_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.200709755"},{"key":"e_1_2_9_243_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20928"},{"key":"e_1_2_9_244_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.200809967"},{"issue":"23","key":"e_1_2_9_245_1","doi-asserted-by":"crossref","first-page":"8610","DOI":"10.1523\/JNEUROSCI.20-23-08610.2000","article-title":"The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation","volume":"20","author":"Struyk AF","year":"2000","journal-title":"J Neurosci"},{"key":"e_1_2_9_246_1","doi-asserted-by":"publisher","DOI":"10.1038\/339597a0"},{"key":"e_1_2_9_247_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22238"},{"key":"e_1_2_9_248_1","doi-asserted-by":"publisher","DOI":"10.1038\/336134a0"},{"key":"e_1_2_9_249_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200001)47:1<46::AID-ANA9>3.0.CO;2-H"},{"key":"e_1_2_9_250_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410350313"},{"key":"e_1_2_9_251_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02164912"},{"key":"e_1_2_9_252_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05396"},{"key":"e_1_2_9_253_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2004.12.047"},{"key":"e_1_2_9_254_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12630-010-9314-4"},{"key":"e_1_2_9_255_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200009)48:3<304::AID-ANA4>3.0.CO;2-A"},{"key":"e_1_2_9_256_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI4552"},{"key":"e_1_2_9_257_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-010-0820-6"},{"key":"e_1_2_9_258_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI15183"},{"key":"e_1_2_9_259_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt133"},{"key":"e_1_2_9_260_1","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.200709817"},{"key":"e_1_2_9_261_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1230273100"},{"key":"e_1_2_9_262_1","doi-asserted-by":"publisher","DOI":"10.1007\/BFb0111446"},{"key":"e_1_2_9_263_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20483"},{"key":"e_1_2_9_264_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjp.0700887"},{"key":"e_1_2_9_265_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh639"},{"key":"e_1_2_9_266_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000145768.09934.EC"},{"issue":"4","key":"e_1_2_9_267_1","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/1252","article-title":"Febrile seizures and generalized epilepsy associated with a mutation in the Na+\u2010channel beta1 subunit gene SCN1B","volume":"19","author":"Wallace RH","year":"1998","journal-title":"Nat Genet"},{"key":"e_1_2_9_268_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002490050214"},{"key":"e_1_2_9_269_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCEP.108.779181"},{"issue":"6","key":"e_1_2_9_270_1","first-page":"2260","article-title":"Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans","volume":"118","author":"Watanabe H","year":"2008","journal-title":"J Clin Invest"},{"key":"e_1_2_9_271_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-008-0600-8"},{"key":"e_1_2_9_272_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000233841.75824.0f"},{"key":"e_1_2_9_273_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00173.2004"},{"issue":"1","key":"e_1_2_9_274_1","first-page":"R154","article-title":"Molecular and functional evidence for Na(+)\u2010K(+)\u20102Cl(\u2212) cotransporter expression in rat skeletal muscle","volume":"277","author":"Wong JA","year":"1999","journal-title":"Am J Physiol"},{"key":"e_1_2_9_275_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-0082(00)00055-1"},{"key":"e_1_2_9_276_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI57398"},{"key":"e_1_2_9_277_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt280"},{"key":"e_1_2_9_278_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182886a0e"},{"issue":"12","key":"e_1_2_9_279_1","doi-asserted-by":"crossref","first-page":"4580","DOI":"10.1172\/JCI66091","article-title":"A calcium channel mutant mouse model of hypokalemic periodic paralysis","volume":"122","author":"Wu F","year":"2012","journal-title":"J Clin Invest"},{"key":"e_1_2_9_280_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2005.082909"},{"key":"e_1_2_9_281_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(91)90294-A"},{"key":"e_1_2_9_282_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.26.12785"},{"key":"e_1_2_9_283_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(74)90010-2"},{"key":"e_1_2_9_284_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.87.2.160"},{"key":"e_1_2_9_285_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.2001.t01-1-00697.x"},{"key":"e_1_2_9_286_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.9.1599"},{"key":"e_1_2_9_287_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2002.036400"}],"container-title":["Comprehensive Physiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cphy.c140062","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/cphy.c140062","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cphy.c140062","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T17:56:21Z","timestamp":1717782981000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/cphy.c140062"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,16]]},"ISBN":["9780470650714"],"references-count":286,"alternative-id":["10.1002\/cphy.c140062","10.1002\/cphy"],"URL":"https:\/\/doi.org\/10.1002\/cphy.c140062","archive":["Portico"],"relation":{},"subject":[],"published":{"date-parts":[[2015,3,16]]}}}