{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T16:38:16Z","timestamp":1791563896375,"version":"4.3.4"},"reference-count":270,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2021,6,16]],"date-time":"2021-06-16T00:00:00Z","timestamp":1623801600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007393","name":"Association Fran\u00e7aise contre les Myopathies","doi-asserted-by":"publisher","award":["16123"],"award-info":[{"award-number":["16123"]}],"id":[{"id":"10.13039\/100007393","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005362","name":"Universita degli Studi di Bari Aldo Moro","doi-asserted-by":"publisher","award":["2017\u20132018"],"award-info":[{"award-number":["2017\u20132018"]}],"id":[{"id":"10.13039\/501100005362","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare genetic disorders caused by mutations in genes encoding ion channel subunits in the skeletal muscle mainly characterized by myotonia or periodic paralysis, potentially resulting in long-term disabilities. However, with the development of new molecular technologies, new genes and new phenotypes, including progressive myopathies, have been recently discovered, markedly increasing the complexity in the field. In this regard, new advances in SMICs show a less conventional role of ion channels in muscle cell division, proliferation, differentiation, and survival. Hence, SMICs represent an expanding and exciting field. Here, we review current knowledge of SMICs, with a description of their clinical phenotypes, cellular and molecular pathomechanisms, and available treatments.<\/jats:p>","DOI":"10.3390\/cells10061521","type":"journal-article","created":{"date-parts":[[2021,6,16]],"date-time":"2021-06-16T21:58:32Z","timestamp":1623880712000},"page":"1521","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":51,"title":["Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0932-5173","authenticated-orcid":false,"given":"Lorenzo","family":"Maggi","sequence":"first","affiliation":[{"name":"Neuroimmunology and Neuromuscular Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8823-6821","authenticated-orcid":false,"given":"Silvia","family":"Bonanno","sequence":"additional","affiliation":[{"name":"Neuroimmunology and Neuromuscular Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7306-9621","authenticated-orcid":false,"given":"Concetta","family":"Altamura","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70124 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8816-9369","authenticated-orcid":false,"given":"Jean-Fran\u00e7ois","family":"Desaphy","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70124 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,16]]},"reference":[{"key":"ref_1","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"},{"key":"ref_2","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"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.nmd.2018.03.006","article-title":"Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands","volume":"28","author":"Stunnenberg","year":"2018","journal-title":"Neuromuscul. 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