{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T22:17:50Z","timestamp":1761862670634},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2002,2,1]],"date-time":"2002-02-01T00:00:00Z","timestamp":1012521600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Curr Neurol Neurosci Rep"],"published-print":{"date-parts":[[2002,2]]},"DOI":"10.1007\/s11910-002-0055-9","type":"journal-article","created":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T13:44:43Z","timestamp":1180705483000},"page":"61-69","source":"Crossref","is-referenced-by-count":44,"title":["Periodic paralysis: Understanding channelopathies"],"prefix":"10.1007","volume":"2","author":[{"given":"Frank","family":"Lehmann-Horn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Jurkat-Rott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reinhardt","family":"R\u00fcdel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"55_CR1","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1002\/mus.880100414","volume":"10","author":"F Lehmann-Horn","year":"1987","unstructured":"Lehmann-Horn F, K\u00fcther G, Ricker K, et al.: Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH. Muscle Nerve 1987, 10:363\u2013374.","journal-title":"Muscle Nerve"},{"key":"55_CR2","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1126\/science.2173143","volume":"250","author":"B Fontaine","year":"1990","unstructured":"Fontaine B, Khurana TS, Hoffman EP, et al.: Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 1990, 250:1000\u20131003.","journal-title":"Science"},{"key":"55_CR3","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1152\/physrev.1999.79.4.1317","volume":"79","author":"F Lehmann-Horn","year":"1999","unstructured":"Lehmann-Horn F, Jurkat-Rott K: Voltage-gated ion channels and hereditary disease. Physiol Rev 1999, 79:1317\u20131372. Introduction to the structure, function, isoforms, encoding genes, and pharmacology of voltage-gated ion channels followed by a description of most hereditary channelopathies in neurology, myology, nephrology, and cardiology; parallels in disease mechanisms are emphasized.","journal-title":"Physiol Rev"},{"key":"55_CR4","first-page":"1303","volume-title":"Myology","author":"F Lehmann-Horn","year":"1994","unstructured":"Lehmann-Horn F, Engel AG, Ricker K, R\u00fcdel R: The periodic paralyses and paramyotonia congenita. In Myology, edn 2. Edited by Engel AG, Franzini-Armstrong C. New York: McGraw-Hill; 1994:1303\u20131334.","edition":"edn 2"},{"key":"55_CR5","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/S0896-6273(00)80028-8","volume":"16","author":"N Yang","year":"1996","unstructured":"Yang N, George AL Jr, Horn R: Molecular basis of charge movement in voltage-gated sodium channels. Neuron 1996, 16:113\u2013122.","journal-title":"Neuron"},{"key":"55_CR6","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1038\/45552","volume":"402","author":"A Cha","year":"1999","unstructured":"Cha A, Snyder GE, Selvin PR, Bezanilla F: Atomic scale movement of the voltage-sensing region in a potassium channel measured via spectroscopy. Nature 1999, 402:809\u2013813. Distance changes measured by lanthanide-based resonance energy transfer suggest that the region associated with the S4 segment undergoes a rotation and possible tilt, rather than a large transmembrane movement, in response to voltage.","journal-title":"Nature"},{"key":"55_CR7","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/339597a0","volume":"339","author":"W St\u00fchmer","year":"1989","unstructured":"St\u00fchmer W, Conti F, Suzuki H, et al.: Structural parts involved in activation and inactivation of the sodium channel. Nature 1989, 339:597\u2013603.","journal-title":"Nature"},{"key":"55_CR8","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1016\/0896-6273(93)90125-B","volume":"11","author":"DE Patton","year":"1993","unstructured":"Patton DE, West JW, Catterall WA, Goldin AL: A peptide segment critical for sodium channel inactivation functions as an inactivation gate in a potassium channel. Neuron 1993, 11:967\u2013974.","journal-title":"Neuron"},{"key":"55_CR9","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/ng0394-267","volume":"6","author":"B Fontaine","year":"1994","unstructured":"Fontaine B, Vale Santos JM, Jurkat-Rott K, et al.: Mapping of hypokalemic periodic paralysis (HypoPP) to chromosome 1q31-q32 by a genome-wide search in three European families. Nature Genet 1994, 6:267\u2013272.","journal-title":"Nature Genet"},{"key":"55_CR10","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1093\/hmg\/3.8.1415","volume":"3","author":"K Jurkat-Rott","year":"1994","unstructured":"Jurkat-Rott K, Lehmann-Horn F, Elbaz A, et al.: A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994, 3:1415\u20131419.","journal-title":"Hum Mol Genet"},{"key":"55_CR11","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1016\/0092-8674(94)90135-X","volume":"77","author":"LJ Pt\u00e9_ek","year":"1994","unstructured":"Pt\u00e9_ek LJ, Tawil R, Griggs RC, et al.: Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994, 77:863\u2013868.","journal-title":"Cell"},{"key":"55_CR12","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1212\/WNL.53.9.1932","volume":"53","author":"DE Bulman","year":"1999","unstructured":"Bulman DE, Scoggan KA, Van Oene MD, et al.: A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology 1999, 53:1932\u20131936.","journal-title":"Neurology"},{"key":"55_CR13","doi-asserted-by":"crossref","first-page":"9549","DOI":"10.1073\/pnas.97.17.9549","volume":"97","author":"K Jurkat-Rott","year":"2000","unstructured":"Jurkat-Rott K, Mitrovic N, Hang C, et al.: Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci U S A 2000, 97:9549\u20139554. Identifies in five families not linked to the Ca2+ channel the skeletal muscle Na+ channel \u00e9 subunit as being responsible for 1) the disease slowing and the smaller size of action potentials recorded intracellularly in native muscle fibers; and 2) Na+ current reduction and enhanced channel inactivation determined in an expression system are in agreement that HypoPP-2 represents the first Na+ channel disease caused by reduced function.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"55_CR14","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/ana.1144","volume":"50","author":"S Bendahhou","year":"2001","unstructured":"Bendahhou S, Cummins TR, Griggs RC, et al.: Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol 2001, 50:417\u2013420. A new HypoPP mutation is described that reacts contrarily to medication and shows the same functional defects of stabilization of the inactivated state.","journal-title":"Ann Neurol"},{"key":"55_CR15","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1093\/brain\/124.6.1091","volume":"124","author":"D Sternberg","year":"2001","unstructured":"Sternberg D, Maisonobe T, Jurkat-Rott K, et al.: Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001, 124:1091\u20131099.","journal-title":"Brain"},{"key":"55_CR16","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/0092-8674(91)90374-8","volume":"7","author":"LJ Pt\u00e9cek","year":"1991","unstructured":"Pt\u00e9cek LJ, George AL Jr, Griggs RC, et al.: Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991, 7:1021\u20131027.","journal-title":"Cell"},{"key":"55_CR17","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/354387a0","volume":"354","author":"CV Rojas","year":"1991","unstructured":"Rojas CV, Wang J, Schwartz L, et al.: A Met-to-Val mutation in the skeletal muscle sodium channel a-subunit in hyperkalemic periodic paralysis. Nature 1991, 354:387\u2013389.","journal-title":"Nature"},{"key":"55_CR18","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1038\/ng1092-148","volume":"2","author":"AI McClatchey","year":"1992","unstructured":"McClatchey AI, McKenna-Yasek D, Cros D, et al.: Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nature Genet 1992, 2:148\u2013152.","journal-title":"Nature Genet"},{"key":"55_CR19","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1212\/WNL.49.4.1018","volume":"49","author":"S Wagner","year":"1997","unstructured":"Wagner S, Lerche H, Mitrovic N, et al.: A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with reduced penetrance. Neurology 1997, 49:1018\u20131025.","journal-title":"Neurology"},{"key":"55_CR20","doi-asserted-by":"crossref","first-page":"4762","DOI":"10.1523\/JNEUROSCI.19-12-04762.1999","volume":"19","author":"S Bendahhou","year":"1999","unstructured":"Bendahhou S, Cummins TR, Tawil R, et al.: Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. J Neurosci 1999, 19:4762\u20134771. New structure-function relationships of the Na+ channel for the reader interested in electrophysiology.","journal-title":"J Neurosci"},{"key":"55_CR21","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/BF00370530","volume":"418","author":"F Lehmann-Horn","year":"1991","unstructured":"Lehmann-Horn F, Iaizzo PA, Hatt H, Franke C: Altered gating and reduced conductance of single sodium channels in hyperkalemic periodic paralysis. Pfl\u00fcgers Arch 1991, 418:297\u2013299.","journal-title":"Pfl\u00fcgers Arch"},{"key":"55_CR22","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/0896-6273(91)90064-7","volume":"6","author":"SC Cannon","year":"1991","unstructured":"Cannon SC, Brown RH Jr, Corey DP: A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation. Neuron 1991, 6:619\u2013626.","journal-title":"Neuron"},{"key":"55_CR23","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1212\/WNL.52.7.1447","volume":"52","author":"LJ Hayward","year":"1999","unstructured":"Hayward LJ, Sandoval GM, Cannon SC: Defective slow inactivation of sodium channels contributes to familial periodic paralysis. Neurology 1999, 52:1447\u20131453.","journal-title":"Neurology"},{"key":"55_CR24","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1172\/JCI9654","volume":"106","author":"S Bendahhou","year":"2000","unstructured":"Bendahhou S, Cummins TR, Hahn AF, et al.: A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. J Clin Invest 2000, 106:431\u2013438. Explains the mechanism of how defects of Na+ channel slow inactivation contributes to attacks of paralysis.","journal-title":"J Clin Invest"},{"key":"55_CR25","first-page":"2190","volume":"54","author":"RL Ruff","year":"2000","unstructured":"Ruff RL, Cannon SC: Defective slow inactivation of sodium channels contributes to familial periodic paralysis. Neurology 2000, 54:2190\u20132192.","journal-title":"Neurology"},{"key":"55_CR26","doi-asserted-by":"crossref","first-page":"8610","DOI":"10.1523\/JNEUROSCI.20-23-08610.2000","volume":"20","author":"AF Struyk","year":"2000","unstructured":"Struyk AF, Scoggan KA, Bulman DE, Cannon SC: The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation. J Neurosci 2000, 20:8610\u20138617.","journal-title":"J Neurosci"},{"key":"55_CR27","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1172\/JCI4552","volume":"103","author":"D Tricarico","year":"1999","unstructured":"Tricarico D, Servidei S, Tonali P, et al.: Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis. J Clin Invest 1999, 103:675\u2013682.","journal-title":"J Clin Invest"},{"key":"55_CR28","doi-asserted-by":"crossref","first-page":"1556","DOI":"10.1212\/WNL.53.7.1556","volume":"53","author":"RL Ruff","year":"1999","unstructured":"Ruff RL: Insulin acts in hypokalemic periodic paralysis by reducing inward rectifier K+ current. Neurology 1999, 53:1556\u20131563.","journal-title":"Neurology"},{"key":"55_CR29","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1111\/j.1469-7793.2000.00325.x","volume":"527","author":"T Clausen","year":"2000","unstructured":"Clausen T, Overgaard K: The role of K+ channels in the force recovery elicited by Na+K+ pump stimulation in Ba2+-paralysed rat skeletal muscle. J Physiol 2000, 527:325\u2013332.","journal-title":"J Physiol"},{"key":"55_CR30","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/1531-8249(200009)48:3<304::AID-ANA4>3.0.CO;2-A","volume":"48","author":"D Tricarico","year":"2000","unstructured":"Tricarico D, Barbieri M, Conte-Camerino D: Acetazolamide opens the muscular KCa2+ channel: a novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis. Ann Neurol 2000, 48:304\u2013312. Hypothesis of acetazolamide interaction with K+ channels that could explain depolarization and hypokalemia in hypokalemic periodic paralysis.","journal-title":"Ann Neurol"},{"key":"55_CR31","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/0014-5793(96)00173-1","volume":"382","author":"P Lapie","year":"1996","unstructured":"Lapie P, Goudet C, Nargeot J, et al.: Electrophysiological properties of the hypokalemic periodic paralysis mutation (R528H) of the skeletal muscle alpha 1s subunit as expressed in mouse L cells. FEBS Lett 1996, 382:244\u2013248.","journal-title":"FEBS Lett"},{"key":"55_CR32","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/s004240050021","volume":"431","author":"H Lerche","year":"1996","unstructured":"Lerche H, Klugbauer N, Lehmann-Horn F, et al.: Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis. Pfl\u00fcgers Arch 1996, 431:461\u2013463.","journal-title":"Pfl\u00fcgers Arch"},{"key":"55_CR33","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/S0014-5793(98)00090-8","volume":"423","author":"K Jurkat-Rott","year":"1998","unstructured":"Jurkat-Rott K, Uetz U, Pika-Hartlaub U, et al.: Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor \u03b1 1 subunits (R528H). FEBS Lett 1998, 423:198\u2013204.","journal-title":"FEBS Lett"},{"key":"55_CR34","doi-asserted-by":"crossref","first-page":"10320","DOI":"10.1523\/JNEUROSCI.18-24-10320.1998","volume":"18","author":"JA Morrill","year":"1998","unstructured":"Morrill JA, Brown RH Jr, Cannon SC: Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H. J Neurosci 1998, 18:10320\u201310334.","journal-title":"J Neurosci"},{"key":"55_CR35","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1111\/j.1469-7793.1999.00321.x","volume":"2","author":"JA Morrill","year":"1999","unstructured":"Morrill JA, Cannon SC: Effects of mutations causing hypokalaemic periodic paralysis on the skeletal muscle L-Type Ca2+ channel expressed in Xenopus laevis oocytes. J Physiol 1999, 2:321\u2013336. Heterologous expression of the skeletal muscle dihydropyridine receptor reveals reduced L-type current amplitude for all three mutations causing hypokalemic periodic paralysis similarly to previous reports; the IVS4 mutations slow current activation at depolarized membrane.","journal-title":"J Physiol"},{"key":"55_CR36","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1136\/jnnp.57.5.632","volume":"57","author":"TP Links","year":"1994","unstructured":"Links TP, Vanderhoeven JH, Zwarts MJ: Surface EMG and muscle fiber conduction during attacks of hypokalaemic periodic paralysis. J Neurol Neurosurg Psychiatry 1994, 57:632\u2013634.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"55_CR37","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/mus.880070205","volume":"7","author":"R R\u00fcdel","year":"1984","unstructured":"R\u00fcdel R, Lehmann-Horn F, Ricker K, K\u00fcther G: Hypokalemic periodic paralysis: in vitro investigation of muscle fiber membrane parameters. Muscle Nerve 1984, 7:110\u2013120.","journal-title":"Muscle Nerve"},{"key":"55_CR38","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/S0092-8674(01)00207-0","volume":"104","author":"GW Abbott","year":"2001","unstructured":"Abbott GW, Butler MH, Bendahhou S, et al.: Mirp2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell 2001, 104:217\u2013231. Shows that the Shaw-like voltage-gated K+ channel Kv3.4 (_ subunit) and the b subunit MiRP2, the latter encoded by KCNE3, form a channel complex that sets the resting membrane potential of skeletal muscle. A kcne3 mutation predicting R83H was identified in two periodic paralysis families.","journal-title":"Cell"},{"key":"55_CR39","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/ana.410350313","volume":"35","author":"R Tawil","year":"1994","unstructured":"Tawil R, Pt\u00e1_ek LJ, Pavlakis SG, et al.: Andersen\u2019s syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994, 35:326\u2013330.","journal-title":"Ann Neurol"},{"key":"55_CR40","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/ana.410420306","volume":"42","author":"V Sansone","year":"1997","unstructured":"Sansone V, Griggs RC, Meola G, et al.: Andersen\u2019s syndrome: a distinct periodic paralysis. Ann Neurol 1997, 42:305\u2013312.","journal-title":"Ann Neurol"},{"key":"55_CR41","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/S0092-8674(01)00342-7","volume":"105","author":"NM Plaster","year":"2001","unstructured":"Plaster NM, Tawil R, Tristani-Firouzi M, et al.: Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen\u2019s syndrome. Cell 2001, 105:511\u20135199. First description of gene, mutations, and functional consequences in Andersen\u2019s syndrome.","journal-title":"Cell"},{"key":"55_CR42","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/0896-6273(93)90321-H","volume":"10","author":"SC Cannon","year":"1993","unstructured":"Cannon SC, Strittmatter SM: Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron 1993, 10:317\u2013326.","journal-title":"Neuron"},{"key":"55_CR43","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1086\/302588","volume":"65","author":"MM Ryan","year":"1999","unstructured":"Ryan MM, Taylor P, Donald JA, et al.: A novel syndrome of episodic muscle weakness maps to Xp22.3. Am J Hum Genet 1999, 65:1104\u20131113.","journal-title":"Am J Hum Genet"}],"container-title":["Current Neurology and Neuroscience Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11910-002-0055-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11910-002-0055-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11910-002-0055-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,2]],"date-time":"2019-06-02T00:24:28Z","timestamp":1559435068000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11910-002-0055-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,2]]},"references-count":43,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,2]]}},"alternative-id":["55"],"URL":"https:\/\/doi.org\/10.1007\/s11910-002-0055-9","relation":{},"ISSN":["1528-4042","1534-6293"],"issn-type":[{"value":"1528-4042","type":"print"},{"value":"1534-6293","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,2]]}}}