{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T22:06:39Z","timestamp":1785708399752,"version":"3.56.0"},"reference-count":113,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T00:00:00Z","timestamp":1692316800000},"content-version":"vor","delay-in-days":1782,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["neurotherapeuticsjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurotherapeutics"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1007\/s13311-018-00678-0","type":"journal-article","created":{"date-parts":[[2018,10,19]],"date-time":"2018-10-19T07:53:48Z","timestamp":1539935628000},"page":"954-965","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":54,"title":["Skeletal Muscle Channelopathies"],"prefix":"10.1016","volume":"15","author":[{"given":"Lauren","family":"Phillips","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaya R.","family":"Trivedi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1007\/s13311-018-00678-0_bib1","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1097\/WCO.0b013e32833cc97e","article-title":"Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis","volume":"23","author":"Raja Rayan","year":"2010","journal-title":"Curr Opin Neurol"},{"issue":"6","key":"10.1007\/s13311-018-00678-0_bib2","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1212\/01.CON.0000440661.49298.c8","article-title":"Muscle channelopathies: the nondystrophic myotonias and periodic paralyses","volume":"19","author":"Statland","year":"2013","journal-title":"Continuum (Minneap Minn)"},{"key":"10.1007\/s13311-018-00678-0_bib3","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.neuroscience.2017.01.019","article-title":"Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis","volume":"346","author":"Paninka","year":"2017","journal-title":"Neuroscience"},{"key":"10.1007\/s13311-018-00678-0_bib4","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1146\/annurev.neuro.29.051605.112815","article-title":"Pathomechanisms in channelopathies of skeletal muscle and brain","volume":"29","author":"Cannon","year":"2006","journal-title":"Annu Rev Neurosci"},{"issue":"1","key":"10.1007\/s13311-018-00678-0_bib5","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/0960-8966(91)90039-U","article-title":"Population frequencies of inherited neuromuscular diseases\u2013a world survey","volume":"1","author":"Emery","year":"1991","journal-title":"Neuromuscul Disord"},{"issue":"Pt 12","key":"10.1007\/s13311-018-00678-0_bib6","doi-asserted-by":"crossref","first-page":"3265","DOI":"10.1093\/brain\/awm248","article-title":"Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions","volume":"130","author":"Fialho","year":"2007","journal-title":"Brain"},{"issue":"11","key":"10.1007\/s13311-018-00678-0_bib7","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1001\/archneur.1993.00540110101010","article-title":"Duchenne-Becker muscular dystrophy and the nondystrophic myotonias. Paradigms for loss of function and change of function of gene products","volume":"50","author":"Hoffman","year":"1993","journal-title":"Arch Neurol"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib8","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/S1071-9091(96)80041-6","article-title":"Channelopathies: the nondystrophic myotonias and periodic paralyses","volume":"3","author":"Lehmann-Horn","year":"1996","journal-title":"Semin Pediatr Neurol"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib9","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1007\/BF02043311","article-title":"Myotonia congenita and myotonic dystrophy: descriptive epidemiological investigation in Turin, Italy (1955-1979)","volume":"3","author":"Pinessi","year":"1982","journal-title":"Ital J Neurol Sci"},{"issue":"5","key":"10.1007\/s13311-018-00678-0_bib10","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/0092-8674(91)90374-8","article-title":"Identification of a mutation in the gene causing hyperkalemic periodic paralysis","volume":"67","author":"Ptacek","year":"1991","journal-title":"Cell"},{"issue":"12","key":"10.1007\/s13311-018-00678-0_bib11","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1038\/sj.ejhg.5200736","article-title":"Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia","volume":"9","author":"Sun","year":"2001","journal-title":"Eur J Hum Genet"},{"issue":"7","key":"10.1007\/s13311-018-00678-0_bib12","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1212\/WNL.0b013e3181ed9e96","article-title":"Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder","volume":"75","author":"Lion-Francois","year":"2010","journal-title":"Neurology"},{"issue":"4","key":"10.1007\/s13311-018-00678-0_bib13","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1136\/jnnp.65.4.569","article-title":"Familial cramp due to potassium-aggravated myotonia","volume":"65","author":"Orrell","year":"1998","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib14","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0303-8467(99)00019-0","article-title":"Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies","volume":"101","author":"Lacomis","year":"1999","journal-title":"Clin Neurol Neurosurg"},{"issue":"11","key":"10.1007\/s13311-018-00678-0_bib15","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1016\/j.nmd.2008.07.004","article-title":"Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita","volume":"18","author":"Fialho","year":"2008","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.1007\/s13311-018-00678-0_bib16","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.ijgo.2009.01.031","article-title":"Pregnancy in women with myotonia congenita","volume":"106","author":"Basu","year":"2009","journal-title":"Int J Gynaecol Obstet"},{"issue":"6","key":"10.1007\/s13311-018-00678-0_bib17","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1111\/j.1399-0004.2010.01616.x","article-title":"Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene","volume":"80","author":"Sun","year":"2011","journal-title":"Clin Genet"},{"issue":"11","key":"10.1007\/s13311-018-00678-0_bib18","doi-asserted-by":"crossref","first-page":"1731","DOI":"10.1007\/s00415-008-0010-z","article-title":"High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany","volume":"255","author":"Suominen","year":"2008","journal-title":"J Neurol"},{"issue":"4","key":"10.1007\/s13311-018-00678-0_bib19","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.nmd.2015.01.006","article-title":"SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype","volume":"25","author":"Bugiardini","year":"2015","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"10.1007\/s13311-018-00678-0_bib20","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1136\/jmg.35.4.293","article-title":"Myotonia congenita in northern Finland: an epidemiological and genetic study","volume":"35","author":"Baumann","year":"1998","journal-title":"J Med Genet"},{"issue":"1","key":"10.1007\/s13311-018-00678-0_bib21","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/mus.20295","article-title":"Phenotypic variability in myotonia congenita","volume":"32","author":"Colding-Jorgensen","year":"2005","journal-title":"Muscle Nerve"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib22","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/mus.880100209","article-title":"Paramyotonia congenita: successful treatment with tocainide. Clinical and electrophysiologic findings in seven patients","volume":"10","author":"Streib","year":"1987","journal-title":"Muscle Nerve"},{"key":"10.1007\/s13311-018-00678-0_bib23","series-title":"Myotonia congenita and syndromes associated with myotonia : clinical-genetic studies of the nondystrophic myotonias","first-page":"181","author":"Becker","year":"1977"},{"issue":"Pt 7","key":"10.1007\/s13311-018-00678-0_bib24","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1093\/brain\/awt133","article-title":"Non-dystrophic myotonia: prospective study of objective and patient reported outcomes","volume":"136","author":"Trivedi","year":"2013","journal-title":"Brain"},{"issue":"6","key":"10.1007\/s13311-018-00678-0_bib25","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1136\/jnnp.2008.162396","article-title":"Redefining the clinical phenotypes of non-dystrophic myotonic syndromes","volume":"80","author":"Trip","year":"2009","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"4","key":"10.1007\/s13311-018-00678-0_bib26","first-page":"851","article-title":"Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus","volume":"49","author":"Ptacek","year":"1991","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib27","first-page":"378","article-title":"Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus","volume":"49","author":"Ptacek","year":"1991","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib28","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/0960-8966(93)90001-Z","article-title":"Periodic paralysis, myotonia congenita and sarcolemmal ion channels: a success of the candidate gene approach","volume":"3","author":"Fontaine","year":"1993","journal-title":"Neuromuscul Disord"},{"issue":"7","key":"10.1007\/s13311-018-00678-0_bib29","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1056\/NEJM199302183280707","article-title":"Genetics and physiology of the myotonic muscle disorders","volume":"328","author":"Ptacek","year":"1993","journal-title":"N Engl J Med"},{"issue":"1","key":"10.1007\/s13311-018-00678-0_bib30","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1212\/01.wnl.0000287069.21162.94","article-title":"What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed","volume":"70","author":"Matthews","year":"2008","journal-title":"Neurology"},{"issue":"Pt 1","key":"10.1007\/s13311-018-00678-0_bib31","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1093\/brain\/awp294","article-title":"The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment","volume":"133","author":"Matthews","year":"2010","journal-title":"Brain"},{"issue":"5","key":"10.1007\/s13311-018-00678-0_bib32","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1016\/0896-6273(92)90203-P","article-title":"Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita","volume":"8","author":"Ptacek","year":"1992","journal-title":"Neuron"},{"issue":"11","key":"10.1007\/s13311-018-00678-0_bib33","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1001\/archneur.1994.00540230033009","article-title":"Myotonia fluctuans. A third type of muscle sodium channel disease","volume":"51","author":"Ricker","year":"1994","journal-title":"Arch Neurol"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib34","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1212\/WNL.37.3.488","article-title":"Acetazolamide-responsive myotonia congenita","volume":"37","author":"Trudell","year":"1987","journal-title":"Neurology"},{"issue":"5","key":"10.1007\/s13311-018-00678-0_bib35","doi-asserted-by":"crossref","first-page":"e1447","DOI":"10.1542\/peds.2013-3727","article-title":"Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm","volume":"134","author":"Singh","year":"2014","journal-title":"Pediatrics"},{"key":"10.1007\/s13311-018-00678-0_bib36","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.jpeds.2017.05.081","article-title":"Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms","volume":"188","author":"Matthews","year":"2017","journal-title":"J Pediatr"},{"issue":"11","key":"10.1007\/s13311-018-00678-0_bib37","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1136\/jnnp.41.11.1013","article-title":"Hypothyroidism with true myotonia","volume":"41","author":"Venables","year":"1978","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib38","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/mus.20923","article-title":"Differential diagnosis of myotonic disorders","volume":"37","author":"Miller","year":"2008","journal-title":"Muscle Nerve"},{"issue":"6","key":"10.1007\/s13311-018-00678-0_bib39","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1002\/mus.23716","article-title":"Diagnostic impact of myotonic discharges in myofibrillar myopathies","volume":"47","author":"Hanisch","year":"2013","journal-title":"Muscle Nerve"},{"issue":"5","key":"10.1007\/s13311-018-00678-0_bib40","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1002\/ana.20241","article-title":"Electromyography guides toward subgroups of mutations in muscle channelopathies","volume":"56","author":"Fournier","year":"2004","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib41","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1002\/ana.20905","article-title":"Cold extends electromyography distinction between ion channel mutations causing myotonia","volume":"60","author":"Fournier","year":"2006","journal-title":"Ann Neurol"},{"issue":"8","key":"10.1007\/s13311-018-00678-0_bib42","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/mus.880090805","article-title":"The exercise test in periodic paralysis","volume":"9","author":"McManis","year":"1986","journal-title":"Muscle Nerve"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib43","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/ana.22238","article-title":"Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies","volume":"69","author":"Tan","year":"2011","journal-title":"Ann Neurol"},{"issue":"8","key":"10.1007\/s13311-018-00678-0_bib44","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/j.nmd.2013.05.001","article-title":"Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias","volume":"23","author":"Morrow","year":"2013","journal-title":"Neuromuscul Disord"},{"issue":"Pt 11","key":"10.1007\/s13311-018-00678-0_bib45","doi-asserted-by":"crossref","first-page":"2392","DOI":"10.1093\/brain\/awf246","article-title":"Novel CLCN1 mutations with unique clinical and electrophysiological consequences","volume":"125","author":"Wu","year":"2002","journal-title":"Brain"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib46","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1085\/jgp.113.3.457","article-title":"The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia","volume":"113","author":"Saviane","year":"1999","journal-title":"J Gen Physiol"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib47","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1113\/jphysiol.1971.sp009667","article-title":"Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids","volume":"219","author":"Bryant","year":"1971","journal-title":"J Physiol"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib48","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1113\/jphysiol.1974.sp010620","article-title":"On the repetitive discharge in myotonic muscle fibres","volume":"240","author":"Adrian","year":"1974","journal-title":"J Physiol"},{"issue":"6","key":"10.1007\/s13311-018-00678-0_bib49","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1016\/0896-6273(95)90023-3","article-title":"Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel","volume":"15","author":"Pusch","year":"1995","journal-title":"Neuron"},{"issue":"5071","key":"10.1007\/s13311-018-00678-0_bib50","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1126\/science.1379744","article-title":"The skeletal muscle chloride channel in dominant and recessive human myotonia","volume":"257","author":"Koch","year":"1992","journal-title":"Science"},{"issue":"4","key":"10.1007\/s13311-018-00678-0_bib51","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1038\/ng0493-305","article-title":"Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)","volume":"3","author":"George","year":"1993","journal-title":"Nat Genet"},{"issue":"11","key":"10.1007\/s13311-018-00678-0_bib52","first-page":"2071","article-title":"Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita","volume":"3","author":"George","year":"1994","journal-title":"Hum Mol Genet"},{"issue":"6","key":"10.1007\/s13311-018-00678-0_bib53","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-Kleine","year":"1995","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1007\/s13311-018-00678-0_bib54","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1212\/WNL.47.4.993","article-title":"Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita","volume":"47","author":"Zhang","year":"1996","journal-title":"Neurology"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib55","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1212\/WNL.53.2.297","article-title":"Founder mutations and the high prevalence of myotonia congenita in northern Finland","volume":"53","author":"Papponen","year":"1999","journal-title":"Neurology"},{"issue":"5","key":"10.1007\/s13311-018-00678-0_bib56","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/mus.880040508","article-title":"Membrane defects in paramyotonia congenita with and without myotonia in a warm environment","volume":"4","author":"Lehmann-Horn","year":"1981","journal-title":"Muscle Nerve"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib57","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/mus.880060206","article-title":"Two cases of adynamia episodica hereditaria: in vitro investigation of muscle cell membrane and contraction parameters","volume":"6","author":"Lehmann-Horn","year":"1983","journal-title":"Muscle Nerve"},{"issue":"4983","key":"10.1007\/s13311-018-00678-0_bib58","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1126\/science.2173143","article-title":"Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene","volume":"250","author":"Fontaine","year":"1990","journal-title":"Science"},{"issue":"6","key":"10.1007\/s13311-018-00678-0_bib59","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1002\/ana.410300610","article-title":"Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene","volume":"30","author":"Ebers","year":"1991","journal-title":"Ann Neurol"},{"key":"10.1007\/s13311-018-00678-0_bib60","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/164_2017_52","article-title":"Sodium Channelopathies of Skeletal Muscle","volume":"246","author":"Cannon","year":"2018","journal-title":"Handb Exp Pharmacol"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib61","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/mus.23320","article-title":"Role of disease severity, illness perceptions, and mood on quality of life in muscle disease","volume":"46","author":"Rose","year":"2012","journal-title":"Muscle Nerve"},{"issue":"11","key":"10.1007\/s13311-018-00678-0_bib62","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1111\/j.1468-1331.2012.03751.x","article-title":"Measuring quality of life impairment in skeletal muscle channelopathies","volume":"19","author":"Sansone","year":"2012","journal-title":"Eur J Neurol"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib63","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1002\/cphy.c140062","article-title":"Channelopathies of skeletal muscle excitability","volume":"5","author":"Cannon","year":"2015","journal-title":"Compr Physiol"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib64","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.ncl.2014.04.002","article-title":"Muscle channelopathies","volume":"32","author":"Statland","year":"2014","journal-title":"Neurol Clin"},{"issue":"13","key":"10.1007\/s13311-018-00678-0_bib65","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1001\/jama.2012.12607","article-title":"Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial","volume":"308","author":"Statland","year":"2012","journal-title":"JAMA"},{"issue":"7","key":"10.1007\/s13311-018-00678-0_bib66","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1212\/WNL.0000000000004229","article-title":"Open-label trial of ranolazine for the treatment of myotonia congenita","volume":"89","author":"Arnold","year":"2017","journal-title":"Neurology"},{"key":"10.1007\/s13311-018-00678-0_bib67","series-title":"GeneReviews [Internet]","article-title":"Myotonia Congenita","author":"Dun\u00f8","year":"2005"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib68","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/0014-4886(85)90228-6","article-title":"Efficacy of phenytoin, procainamide, and tocainide in murine genetic myotonia","volume":"87","author":"Aichele","year":"1985","journal-title":"Exp Neurol"},{"issue":"4","key":"10.1007\/s13311-018-00678-0_bib69","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1007\/s00228-012-1414-3","article-title":"Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy","volume":"69","author":"Desaphy","year":"2013","journal-title":"Eur J Clin Pharmacol"},{"issue":"1","key":"10.1007\/s13311-018-00678-0_bib70","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/(SICI)1097-4598(200001)23:1<138::AID-MUS23>3.0.CO;2-4","article-title":"Response to carbamazepine of recessive-type myotonia congenita","volume":"23","author":"Berardinelli","year":"2000","journal-title":"Muscle Nerve"},{"key":"10.1007\/s13311-018-00678-0_bib71","series-title":"Neuromuscular Disorders in Clinical Practice","first-page":"987","article-title":"Disorders of skeletal muscle membrane excitability: myotonia congenita, paramyotonia congenita, periodic paralysis, and related disorders","author":"B Shapiro","year":"2002"},{"issue":"1","key":"10.1007\/s13311-018-00678-0_bib72","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/mus.25452","article-title":"The anti-convulsants lacosamide, lamotrigine, and rufinamide reduce myotonia in isolated human and rat skeletal muscle","volume":"56","author":"Skov","year":"2017","journal-title":"Muscle Nerve"},{"issue":"9","key":"10.1007\/s13311-018-00678-0_bib73","doi-asserted-by":"crossref","first-page":"2295","DOI":"10.1093\/brain\/awx192","article-title":"The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study","volume":"140","author":"Andersen","year":"2017","journal-title":"Brain"},{"issue":"1","key":"10.1007\/s13311-018-00678-0_bib74","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1093\/brain\/82.1.81","article-title":"The treatment of myotonia: a controlled clinical trial","volume":"82","author":"Leyburn","year":"1959","journal-title":"Brain"},{"issue":"1","key":"10.1007\/s13311-018-00678-0_bib75","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/0002-9343(75)90319-8","article-title":"Cardiac conduction in myotonic dystrophy","volume":"59","author":"Griggs","year":"1975","journal-title":"Am J Med"},{"issue":"7","key":"10.1007\/s13311-018-00678-0_bib76","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1002\/mus.880100704","article-title":"AAEE minimonograph #27: differential diagnosis of myotonic syndromes","volume":"10","author":"Streib","year":"1987","journal-title":"Muscle Nerve"},{"issue":"4","key":"10.1007\/s13311-018-00678-0_bib77","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1111\/j.1600-0404.1992.tb05103.x","article-title":"Treatment of myotonia with antiarrhythmic drugs","volume":"86","author":"Kwiecinski","year":"1992","journal-title":"Acta Neurol Scand"},{"key":"10.1007\/s13311-018-00678-0_bib78","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0065-2660(08)01001-8","article-title":"Periodic paralysis","volume":"63","author":"Fontaine","year":"2008","journal-title":"Adv Genet"},{"issue":"9","key":"10.1007\/s13311-018-00678-0_bib79","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1212\/01.WNL.0000143383.91137.00","article-title":"Correlating phenotype and genotype in the periodic paralyses","volume":"63","author":"Miller","year":"2004","journal-title":"Neurology"},{"issue":"Pt 1","key":"10.1007\/s13311-018-00678-0_bib80","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1093\/brain\/awh639","article-title":"The primary periodic paralyses: diagnosis, pathogenesis and treatment","volume":"129","author":"Venance","year":"2006","journal-title":"Brain"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib81","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1002\/mus.880060303","article-title":"Treatment of \u201cpermanent\u201d muscle weakness in familial Hypokalemic Periodic Paralysis","volume":"6","author":"Dalakas","year":"1983","journal-title":"Muscle Nerve"},{"issue":"1","key":"10.1007\/s13311-018-00678-0_bib82","doi-asserted-by":"crossref","first-page":"39","DOI":"10.7326\/0003-4819-73-1-39","article-title":"Acetazolamide treatment of hypokalemic periodic paralysis. Prevention of attacks and improvement of persistent weakness","volume":"73","author":"Griggs","year":"1970","journal-title":"Ann Intern Med"},{"issue":"Pt 6","key":"10.1007\/s13311-018-00678-0_bib83","doi-asserted-by":"crossref","first-page":"1873","DOI":"10.1093\/brain\/113.6.1873","article-title":"Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects","volume":"113","author":"Links","year":"1990","journal-title":"Brain"},{"key":"10.1007\/s13311-018-00678-0_bib84","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/B978-0-444-64076-5.00032-6","article-title":"Periodic paralysis","volume":"148","author":"Fialho","year":"2018","journal-title":"Handb Clin Neurol"},{"key":"10.1007\/s13311-018-00678-0_bib85","doi-asserted-by":"crossref","DOI":"10.1016\/j.nmd.2018.06.008","article-title":"Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients","author":"Jeong","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"10.1007\/s13311-018-00678-0_bib86","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1007\/BF00211025","article-title":"Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP)","volume":"94","author":"Plassart","year":"1994","journal-title":"Hum Genet"},{"issue":"16","key":"10.1007\/s13311-018-00678-0_bib87","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1212\/WNL.0b013e31828cf8d0","article-title":"Prevalence study of genetically defined skeletal muscle channelopathies in England","volume":"80","author":"Horga","year":"2013","journal-title":"Neurology"},{"issue":"4","key":"10.1007\/s13311-018-00678-0_bib88","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/S0092-8674(01)00342-7","article-title":"Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome","volume":"105","author":"Plaster","year":"2001","journal-title":"Cell"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib89","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1172\/JCI15183","article-title":"Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)","volume":"110","author":"Tristani-Firouzi","year":"2002","journal-title":"J Clin Invest"},{"issue":"1","key":"10.1007\/s13311-018-00678-0_bib90","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.cell.2009.12.024","article-title":"Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis","volume":"140","author":"Ryan","year":"2010","journal-title":"Cell"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib91","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/ana.10257","article-title":"Normokalemic periodic paralysis revisited: does it exist?","volume":"52","author":"Chinnery","year":"2002","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib92","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/ana.410350313","article-title":"Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features","volume":"35","author":"Tawil","year":"1994","journal-title":"Ann Neurol"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib93","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/ana.410420306","article-title":"Andersen's syndrome: a distinct periodic paralysis","volume":"42","author":"Sansone","year":"1997","journal-title":"Ann Neurol"},{"issue":"1","key":"10.1007\/s13311-018-00678-0_bib94","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/s11910-002-0055-9","article-title":"Periodic paralysis: understanding channelopathies","volume":"2","author":"Lehmann-Horn","year":"2002","journal-title":"Curr Neurol Neurosci Rep"},{"issue":"Pt 11","key":"10.1007\/s13311-018-00678-0_bib95","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1113\/jphysiol.2010.186874","article-title":"Voltage-sensor mutations in channelopathies of skeletal muscle","volume":"588","author":"Cannon","year":"2010","journal-title":"J Physiol"},{"issue":"10","key":"10.1007\/s13311-018-00678-0_bib96","doi-asserted-by":"crossref","first-page":"4082","DOI":"10.1172\/JCI57398","article-title":"A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis","volume":"121","author":"Wu","year":"2011","journal-title":"J Clin Invest"},{"issue":"12","key":"10.1007\/s13311-018-00678-0_bib97","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","year":"2012","journal-title":"J Clin Invest"},{"issue":"Pt 11","key":"10.1007\/s13311-018-00678-0_bib98","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1113\/jphysiol.2009.186627","article-title":"Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?","volume":"588","author":"Matthews","year":"2010","journal-title":"J Physiol"},{"issue":"1","key":"10.1007\/s13311-018-00678-0_bib99","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.nmd.2005.10.005","article-title":"Carbonic anhydrase inhibitors ameliorate the symptoms of hypokalaemic periodic paralysis in rats by opening the muscular Ca2+-activated-K+ channels","volume":"16","author":"Tricarico","year":"2006","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"10.1007\/s13311-018-00678-0_bib100","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1212\/CON.0000000000000414","article-title":"The Dystrophic and Nondystrophic Myotonias","volume":"22","author":"Sansone","year":"2016","journal-title":"Continuum (Minneap Minn)"},{"issue":"4","key":"10.1007\/s13311-018-00678-0_bib101","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/S0002-9394(14)75247-X","article-title":"Patient tolerance to carbonic anhydrase inhibitors","volume":"85","author":"Lichter","year":"1978","journal-title":"Am J Ophthalmol"},{"issue":"6","key":"10.1007\/s13311-018-00678-0_bib102","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1212\/WNL.43.6.1105","article-title":"Acetazolamide-induced nephrolithiasis: implications for treatment of neuromuscular disorders","volume":"43","author":"Tawil","year":"1993","journal-title":"Neurology"},{"issue":"9","key":"10.1007\/s13311-018-00678-0_bib103","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1001\/archneur.1983.04050080039005","article-title":"Intravenous treatment of hypokalemic periodic paralysis","volume":"40","author":"Griggs","year":"1983","journal-title":"Arch Neurol"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib104","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/mus.24225","article-title":"Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?","volume":"50","author":"Stunnenberg","year":"2014","journal-title":"Muscle Nerve"},{"issue":"22","key":"10.1007\/s13311-018-00678-0_bib105","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1212\/WNL.0b013e31823a0cb6","article-title":"Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype","volume":"77","author":"Matthews","year":"2011","journal-title":"Neurology"},{"issue":"11","key":"10.1007\/s13311-018-00678-0_bib106","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1212\/WNL.31.11.1423","article-title":"Hypokalemic periodic paralysis exacerbated by acetazolamide","volume":"31","author":"Torres","year":"1981","journal-title":"Neurology"},{"issue":"Pt 6","key":"10.1007\/s13311-018-00678-0_bib107","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1093\/brain\/124.6.1091","article-title":"Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A","volume":"124","author":"Sternberg","year":"2001","journal-title":"Brain"},{"issue":"3","key":"10.1007\/s13311-018-00678-0_bib108","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/ana.1144","article-title":"Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis","volume":"50","author":"Bendahhou","year":"2001","journal-title":"Ann Neurol"},{"issue":"18","key":"10.1007\/s13311-018-00678-0_bib109","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1212\/01.wnl.0000342387.65477.46","article-title":"Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis","volume":"72","author":"Matthews","year":"2009","journal-title":"Neurology"},{"key":"10.1007\/s13311-018-00678-0_bib110","article-title":"Treatment for periodic paralysis","volume":"1","author":"Sansone","year":"2008","journal-title":"Cochrane Database Syst Rev"},{"issue":"10","key":"10.1007\/s13311-018-00678-0_bib111","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/s11940-014-0313-6","article-title":"Treatment and management of neuromuscular channelopathies","volume":"16","author":"Sharp","year":"2014","journal-title":"Curr Treat Options Neurol"},{"issue":"2","key":"10.1007\/s13311-018-00678-0_bib112","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1136\/jnnp.65.2.248","article-title":"Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A)","volume":"65","author":"Hanna","year":"1998","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1007\/s13311-018-00678-0_bib113","doi-asserted-by":"crossref","first-page":"121","DOI":"10.3389\/fphar.2016.00121","article-title":"Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery","volume":"7","author":"Imbrici","year":"2016","journal-title":"Front Pharmacol"}],"container-title":["Neurotherapeutics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s13311-018-00678-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13311-018-00678-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1878747923010243?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1878747923010243?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13311-018-00678-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T20:49:29Z","timestamp":1775249369000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1878747923010243"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10]]},"references-count":113,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["S1878747923010243"],"URL":"https:\/\/doi.org\/10.1007\/s13311-018-00678-0","relation":{},"ISSN":["1878-7479"],"issn-type":[{"value":"1878-7479","type":"print"}],"subject":[],"published":{"date-parts":[[2018,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Skeletal Muscle Channelopathies","name":"articletitle","label":"Article Title"},{"value":"Neurotherapeutics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1007\/s13311-018-00678-0","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2018 The American Society for Experimental NeuroTherapeutics, Inc. Published by Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}