{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T02:29:12Z","timestamp":1776824952565,"version":"3.51.2"},"reference-count":30,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T00:00:00Z","timestamp":1664582400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T00:00:00Z","timestamp":1664582400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T00:00:00Z","timestamp":1664582400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T00:00:00Z","timestamp":1664582400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T00:00:00Z","timestamp":1664582400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T00:00:00Z","timestamp":1664582400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T00:00:00Z","timestamp":1664582400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31671051"],"award-info":[{"award-number":["31671051"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31871060"],"award-info":[{"award-number":["31871060"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People's Republic of China","doi-asserted-by":"publisher","award":["2018YFE0112900"],"award-info":[{"award-number":["2018YFE0112900"]}],"id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["LY21H090010"],"award-info":[{"award-number":["LY21H090010"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004835","name":"Zhejiang University","doi-asserted-by":"publisher","award":["zdjg21099"],"award-info":[{"award-number":["zdjg21099"]}],"id":[{"id":"10.13039\/501100004835","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2020YFB1313501"],"award-info":[{"award-number":["2020YFB1313501"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2022,10]]},"DOI":"10.1016\/j.nmd.2022.08.004","type":"journal-article","created":{"date-parts":[[2022,8,17]],"date-time":"2022-08-17T15:16:52Z","timestamp":1660749412000},"page":"811-819","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia"],"prefix":"10.1016","volume":"32","author":[{"given":"Qing","family":"Ke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Youcheng","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuezhou","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia","family":"Ye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siyang","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fangping","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Ji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuejiao","family":"Dai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Ni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert C.","family":"Griggs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyang","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.nmd.2022.08.004_bib0001","first-page":"357","article-title":"Targeted therapies for skeletal muscle ion channelopathies: systematic review and steps towards precision medicine","volume":"8","author":"Desaphy","year":"2021","journal-title":"J Neuromuscul"},{"key":"10.1016\/j.nmd.2022.08.004_bib0002","doi-asserted-by":"crossref","first-page":"1404","DOI":"10.3389\/fneur.2019.01404","article-title":"An up-to-date overview of the complexity of genotype-phenotype relationships in myotonic channelopathies","volume":"10","author":"Morales","year":"2020","journal-title":"Front Neurol"},{"issue":"16","key":"10.1016\/j.nmd.2022.08.004_bib0003","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":"3","key":"10.1016\/j.nmd.2022.08.004_bib0004","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1136\/practneurol-2020-002576","article-title":"Skeletal muscle channelopathies: a guide to diagnosis and management","volume":"21","author":"Matthews","year":"2021","journal-title":"Pract Neurol"},{"key":"10.1016\/j.nmd.2022.08.004_bib0005","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":"12","key":"10.1016\/j.nmd.2022.08.004_bib0006","doi-asserted-by":"crossref","first-page":"2547","DOI":"10.1113\/JP270818","article-title":"Principles and standards for reporting animal experiments in the Journal of Physiology and Experimental Physiology","volume":"593","author":"Grundy","year":"2015","journal-title":"J. Physiol. (Lond.)"},{"issue":"5","key":"10.1016\/j.nmd.2022.08.004_bib0007","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":"10.1016\/j.nmd.2022.08.004_bib0008","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":"5","key":"10.1016\/j.nmd.2022.08.004_bib0009","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"22","key":"10.1016\/j.nmd.2022.08.004_bib0010","doi-asserted-by":"crossref","first-page":"6837","DOI":"10.1113\/JP274877","article-title":"N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita","volume":"595","author":"Ke","year":"2017","journal-title":"J. Physiol. (Lond.)"},{"key":"10.1016\/j.nmd.2022.08.004_bib0011","doi-asserted-by":"crossref","DOI":"10.1177\/1744806918782229","article-title":"Nav1.7 is phosphorylated by Fyn tyrosine kinase which modulates channel expression and gating in a cell type-dependent manner","volume":"14","author":"Li","year":"2018","journal-title":"Mol Pain"},{"issue":"4","key":"10.1016\/j.nmd.2022.08.004_bib0012","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/j.pediatrneurol.2014.05.027","article-title":"Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias: a three-case report","volume":"51","author":"Markhorst","year":"2014","journal-title":"Pediatr Neurol"},{"issue":"2","key":"10.1016\/j.nmd.2022.08.004_bib0013","doi-asserted-by":"crossref","first-page":"181","DOI":"10.3233\/JND-150069","article-title":"A de novo mutation in the SCN4A gene causing sodium channel myotonia","volume":"2","author":"Orstavik","year":"2015","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2022.08.004_bib0014","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.phrs.2019.01.004","article-title":"Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate","volume":"141","author":"Farinato","year":"2019","journal-title":"Pharmacol Res"},{"key":"10.1016\/j.nmd.2022.08.004_bib0015","doi-asserted-by":"crossref","first-page":"104","DOI":"10.3389\/fneur.2015.00104","article-title":"Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy","volume":"6","author":"Wagnon","year":"2015","journal-title":"Front Neurol"},{"issue":"4","key":"10.1016\/j.nmd.2022.08.004_bib0016","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1124\/pr.57.4.4","article-title":"International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels","volume":"57","author":"Catterall","year":"2005","journal-title":"Pharmacol Rev"},{"issue":"6412","key":"10.1016\/j.nmd.2022.08.004_bib0017","doi-asserted-by":"crossref","first-page":"eaau2486","DOI":"10.1126\/science.aau2486","article-title":"Structure of the human voltage-gated sodium channel Nav1.4 in complex with beta1","volume":"362","author":"Pan","year":"2018","journal-title":"Science"},{"issue":"6003","key":"10.1016\/j.nmd.2022.08.004_bib0018","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1038\/313588a0","article-title":"Na channels in skeletal muscle concentrated near the neuromuscular junction","volume":"313","author":"Beam","year":"1985","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.nmd.2022.08.004_bib0019","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1080\/01658107.2020.1779316","article-title":"Sodium channel myotonia and a novel Gly701Asp mutation in the SCN4A gene: from an ophthalmological symptom to a familial disease","volume":"45","author":"Sampaio","year":"2020","journal-title":"Neuroophthalmology"},{"issue":"9","key":"10.1016\/j.nmd.2022.08.004_bib0020","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1136\/jnnp.74.9.1339","article-title":"Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A","volume":"74","author":"Brancati","year":"2003","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"5","key":"10.1016\/j.nmd.2022.08.004_bib0021","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1136\/jnnp.70.5.618","article-title":"Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica","volume":"70","author":"Kim","year":"2001","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"12","key":"10.1016\/j.nmd.2022.08.004_bib0022","doi-asserted-by":"crossref","first-page":"4762","DOI":"10.1523\/JNEUROSCI.19-12-04762.1999","article-title":"Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation","volume":"19","author":"Bendahhou","year":"1999","journal-title":"J Neurosci"},{"key":"10.1016\/j.nmd.2022.08.004_bib0023","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1093\/brain\/awv352","article-title":"Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy","volume":"139","author":"Zaharieva","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2022.08.004_bib0024","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1002\/ana.24389","article-title":"Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome","volume":"77","author":"Arnold","year":"2015","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2022.08.004_bib0025","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1212\/WNL.0000000000002264","article-title":"A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis","volume":"86","author":"Habbout","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2022.08.004_bib0026","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1093\/brain\/awv400","article-title":"When all is lost...a severe myopathy with hypotonia from sodium channel mutations","volume":"139","author":"Cannon","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2022.08.004_bib0027","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1002\/ana.24331","article-title":"Sodium channel slow inactivation as a therapeutic target for myotonia congenita","volume":"77","author":"Novak","year":"2015","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2022.08.004_bib0028","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/S0006-3495(99)77249-8","article-title":"Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia","volume":"76","author":"Takahashi","year":"1999","journal-title":"Biophys J"},{"key":"10.1016\/j.nmd.2022.08.004_bib0029","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1007\/s00424-008-0600-8","article-title":"Slow inactivation of the NaV1.4 sodium channel in mammalian cells is impeded by co-expression of the beta1 subunit","volume":"457","author":"Webb","year":"2009","journal-title":"Pflugers Arch"},{"issue":"4","key":"10.1016\/j.nmd.2022.08.004_bib0030","doi-asserted-by":"crossref","first-page":"186","DOI":"10.3988\/jcn.2009.5.4.186","article-title":"Clinical diversity of SCN4A-mutation-associated skeletal muscle sodium channelopathy","volume":"5","author":"Lee","year":"2009","journal-title":"J Clin Neurol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896622006332?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896622006332?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:12:32Z","timestamp":1760775152000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896622006332"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10]]},"references-count":30,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["S0960896622006332"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2022.08.004","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2022,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2022.08.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}