{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:20:30Z","timestamp":1775305230465,"version":"3.50.1"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Curr Treat Options Neurol"],"published-print":{"date-parts":[[2000,1]]},"DOI":"10.1007\/s11940-000-0022-1","type":"journal-article","created":{"date-parts":[[2007,6,4]],"date-time":"2007-06-04T13:46:02Z","timestamp":1180964762000},"page":"31-47","source":"Crossref","is-referenced-by-count":21,"title":["Channelopathies"],"prefix":"10.1007","volume":"2","author":[{"suffix":"III","given":"Richard T.","family":"Moxley","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"22_CR1","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1126\/science.1379744","volume":"257","author":"MC Koch","year":"1992","unstructured":"Koch MC, Steinmeyer K, Lorenz C, et al.: The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992, 257:797\u2013800.","journal-title":"Science"},{"key":"22_CR2","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1085\/jgp.109.1.93","volume":"109","author":"C Fahlke","year":"1997","unstructured":"Fahlke C, Knittle T, Gurnett CA, et al.: Subunit stoichiometry of human muscle chloride channels. J Gen Physiol 1997, 109:93\u2013104. This is an excellent current research paper that summarizes the latest ideas about the effects of mutations in the structure of the chloride channel and its function in skeletal muscle.","journal-title":"J Gen Physiol"},{"key":"22_CR3","first-page":"1325","volume":"57","author":"C Meyer-Kleine","year":"1995","unstructured":"Meyer-Kleine C, Steinmeyer K, Ricker K, et al.: Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am J Hum Genet 1995, 57:1325\u20131334.","journal-title":"Am J Hum Genet"},{"key":"22_CR4","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1212\/WNL.47.4.993","volume":"47","author":"J Zhang","year":"1996","unstructured":"Zhang J, George ALJ, Griggs RC, et al.: Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology 1996, 47:993\u2013998.","journal-title":"Neurology"},{"key":"22_CR5","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1056\/NEJM199302183280707","volume":"328","author":"LJ Ptacek","year":"1993","unstructured":"Ptacek LJ, Johnson KJ, Griggs RC: Genetics and physiology of the myotonic muscle disorders. N Engl J Med 1993, 328:482\u2013489.","journal-title":"N Engl J Med"},{"key":"22_CR6","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1146\/annurev.ph.57.030195.002035","volume":"57","author":"RL Barchi","year":"1995","unstructured":"Barchi RL: Molecular pathology of the skeletal muscle sodium channel. Ann Rev Physiol 1995, 57:355\u2013385.","journal-title":"Ann Rev Physiol"},{"key":"22_CR7","first-page":"1303","volume-title":"Myology","author":"F Lehmann-Horn","year":"1994","unstructured":"Lehmann-Horn F, Engel AG, Ricker K, et al.: The periodic paralysis and paramyotonia congenita. In Myology, edn 2. Edited by Engel AG, Franzini-Armstrong C. New York: McGraw-Hill; 1994:1303\u20131334. This chapter provides a thorough review of sodium channel disorders and their treatment. References 6, 8, and 14 provide further updates on the molecular defects responsible for these disorders.","edition":"edn 2"},{"key":"22_CR8","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1016\/S0960-8966(97)00430-6","volume":"7","author":"SC Cannon","year":"1997","unstructured":"Cannon SC: From mutation to myotonia in sodium channel disorders. Neuromuscul Disord 1997, 7:241\u2013249.","journal-title":"Neuromuscul Disord"},{"key":"22_CR9","unstructured":"Tawil R: Periodic paralyses and associated disorders. In Neurobase. Edited by GilmanS, GoldsteinGW, Waxman SC. San Diego: Arbor Publishing; in press."},{"key":"22_CR10","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1016\/0092-8674(94)90135-X","volume":"77","author":"LJ Ptacek","year":"1994","unstructured":"Ptacek LJ, Tawil R, Griggs RC, et al.: Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994, 77:863\u2013868.","journal-title":"Cell"},{"key":"22_CR11","doi-asserted-by":"publisher","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 Molec Genet 1994, 3:1415\u20131419.","journal-title":"Hum Molec Genet"},{"key":"22_CR12","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/S0960-8966(96)00401-4","volume":"7","author":"G Fouad","year":"1997","unstructured":"Fouad G, Dalakas M, Servidei S, et al.: Genotype-phenotype correlations of DHP receptor a1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord 1997, 7:33\u201338. This is a good current overview of the mutations and clinical features that occur in families with hereditary hypokalemic periodic paralysis.","journal-title":"Neuromuscul Disord"},{"key":"22_CR13","doi-asserted-by":"publisher","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 P, et al.: Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor a1-subunits (R528H). FEBS Lett 1998, 423:198\u2013204.","journal-title":"FEBS Lett"},{"key":"22_CR14","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1016\/S0960-8966(97)00046-1","volume":"7","author":"LJ Ptacek","year":"1997","unstructured":"Ptacek LJ: Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. Neuromuscul Disord 1997, 7:250\u2013255.","journal-title":"Neuromuscul Disord"},{"key":"22_CR15","first-page":"289","volume":"19","author":"D Greenberg","year":"1997","unstructured":"Greenberg D: Calcium channels in neurological disease. Ann Neurol 1997, 19:289\u2013291.","journal-title":"Ann Neurol"},{"key":"22_CR16","first-page":"1291","volume-title":"Myology","author":"R R\u00fcdel","year":"1994","unstructured":"R\u00fcdel R, Lehmann-Horn F, Ricker K: Altered excitability of the muscle cell membrane. The nondystrophic myotonias. In Myology, edn 2. Edited by EngelAG, Franzini-ArmstrongC. New York: McGraw-Hill; 1994:1291\u20131302.","edition":"edn 2"},{"key":"22_CR17","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1111\/j.1600-0404.1992.tb05103.x","volume":"86","author":"H Kwiecinski","year":"1992","unstructured":"Kwiecinski H, Ryniewicz B, Ostrzycki A: Treatment of myotonia with antiarrhythmic drugs. Acta Neurol Scand 1992, 86:371\u2013375. This article represents the best study published evaluating the use of mexiletine and tocainide and compares the combination to phenytoin. There is considerable opportunity for further studies of antimyotonia therapy in all the myotonic disorders.","journal-title":"Acta Neurol Scand"},{"key":"22_CR18","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1212\/WNL.39.7.952","volume":"39","author":"RT Moxley III","year":"1989","unstructured":"Moxley RT III, Ricker K, Kingston WJ, et al.: Potassium uptake in muscle during paramyotonic weakness. Neurology 1989, 39:952\u2013955.","journal-title":"Neurology"},{"key":"22_CR19","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1001\/archneur.1990.00530030034012","volume":"47","author":"K Ricker","year":"1990","unstructured":"Ricker K, Lehmann-Horn F, Moxley RT III: Myotonia fluctuans. Arch Neurol 1990, 47:268\u2013274.","journal-title":"Arch Neurol"},{"key":"22_CR20","first-page":"1095","volume":"51","author":"K Ricker","year":"1994","unstructured":"Ricker K, Moxley RT, Heine R, Lehmann-Horn F: Myotonia fluctuans. A third type of muscle sodium channel disease. Ann Neurol 1994, 51:1095\u20131102.","journal-title":"Ann Neurol"},{"key":"22_CR21","doi-asserted-by":"crossref","first-page":"39","DOI":"10.7326\/0003-4819-73-1-39","volume":"73","author":"RC Griggs","year":"1970","unstructured":"Griggs RC, Engel WK, Resnick JS: Acetazolamide treatment of hypokalemic periodic paralysis. Prevention of attacks and improvement of persistent weakness. Ann Intern Med 1970, 73:39\u201348.","journal-title":"Ann Intern Med"},{"key":"22_CR22","first-page":"647","volume-title":"Disorders of Voluntary Muscle","author":"RT Moxley III","year":"1994","unstructured":"Moxley RT III: Metabolic and endocrine myopathies. In Disorders of Voluntary Muscle, edn 6. Edited by Walton J, Karpati G, Hilton-Jones D. Edinburgh: Churchill Livingstone; 1994:647\u2013716.","edition":"edn 6"},{"key":"22_CR23","first-page":"329","volume-title":"Handbook of Muscle Disease","author":"R Tawil","year":"1996","unstructured":"Tawil R, Griggs RC: Hypokalemic periodic paralysis. In Handbook of Muscle Disease. Edited by Lane RJM. Basel: Marcel Dekker; 1996:329\u2013337."},{"key":"22_CR24","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1002\/mus.880090805","volume":"9","author":"DG McManis","year":"1986","unstructured":"McManis DG, Lambert EH, Daube JR: The exercise test in periodic paralysis. Muscle Nerve 1986, 9:704\u2013710.","journal-title":"Muscle Nerve"},{"key":"22_CR25","first-page":"1","volume-title":"Neurology and Neurosurgery Update Series","author":"RC Griggs","year":"1983","unstructured":"Griggs RC: Periodic paralysis. In Neurology and Neurosurgery Update Series, vol. 4. Edited by Scheinberg P, Davidoff RA. Princeton: Continuing Professional Education Center, Inc.; 1983:1\u20138."},{"key":"22_CR26","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1007\/BF00313863","volume":"232","author":"U Mielke","year":"1985","unstructured":"Mielke U, Haass A, Sen S, Schmidt W: Antimyotonic therapy with tocainide under ECG control in the myotonic dystrophy of Curschmann-Steinert. J Neurol 1985, 232:271\u2013274.","journal-title":"J Neurol"},{"key":"22_CR27","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1056\/NEJM198701013160123","volume":"316","author":"RW Campbell","year":"1987","unstructured":"Campbell RW: Mexiletine. N Engl J Med 1987, 316:29\u201334.","journal-title":"N Engl J Med"},{"key":"22_CR28","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1002\/clc.4960130509","volume":"13","author":"AS Manolis","year":"1990","unstructured":"Manolis AS, Deering TF, Cameron J, Estes NA: Mexiletine: pharmacology and therapeutic use. Clin Cardiol 1990, 13:349\u2013359.","journal-title":"Clin Cardiol"},{"key":"22_CR29","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1212\/WNL.31.11.1423","volume":"31","author":"CF Torres","year":"1981","unstructured":"Torres CF, Griggs RC, Moxley RT, Bender AN: Hypokalemic periodic paralysis exacerbated by acetazolamide. Neurology 1981, 31:1423\u20131428.","journal-title":"Neurology"},{"key":"22_CR30","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1212\/WNL.43.6.1105","volume":"43","author":"R Tawil","year":"1993","unstructured":"Tawil R, Moxley RT, Griggs RC: Acetazolamide-induced nephrolithiasis: implications for treatment of neuromuscular disorders. Neurology 1993, 43:1105\u20131106.","journal-title":"Neurology"},{"key":"22_CR31","first-page":"160","volume-title":"Recent Advances in Clinical Neurophysiology","author":"RC Griggs","year":"1996","unstructured":"Griggs RC, Tawil R, Brown RH, et al.: Implications of the molecular defects for classification and treatment of periodic paralysis. In Recent Advances in Clinical Neurophysiology. Edited by Kimura J, Shibasaki H. New York: Elsevier Science; 1996:160\u2013169. This paper presents a helpful discussion of the design of a therapeutic trial in periodic paralysis."},{"key":"22_CR32","first-page":"428","volume":"42","author":"RC Griggs","year":"1997","unstructured":"Griggs RC, Tawil R, Brown RH, et al. and the Working Group on Periodic Paralysis: Dichlorphenamide is effective in the treatment of hypokalemic periodic paralysis [abstract]. Ann Neurol 1997, 42:428. This report summarizes the results of a well-designed doubleblind randomized controlled study in patients with periodic paralysis and clearly establishes the efficacy of the carbonic anhydrase inhibitor dichlorphenamide in preventing attacks of weakness.","journal-title":"Ann Neurol"},{"key":"22_CR33","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1002\/mus.880060303","volume":"6","author":"MC Dalakas","year":"1983","unstructured":"Dalakas MC, Engel WK: Treatment of \u201cpermanent\u201d muscle weakness in familial hypokalemic periodic paralysis. Muscle Nerve 1983, 6:182\u2013186.","journal-title":"Muscle Nerve"}],"container-title":["Current Treatment Options in Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11940-000-0022-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11940-000-0022-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11940-000-0022-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11940-000-0022-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,17]],"date-time":"2020-02-17T12:12:04Z","timestamp":1581941524000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11940-000-0022-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,1]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,1]]}},"alternative-id":["22"],"URL":"https:\/\/doi.org\/10.1007\/s11940-000-0022-1","relation":{},"ISSN":["1092-8480","1534-3138"],"issn-type":[{"value":"1092-8480","type":"print"},{"value":"1534-3138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,1]]}}}