{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:09:57Z","timestamp":1790651397123,"version":"4.1.0"},"reference-count":156,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,10,4]],"date-time":"2021-10-04T00:00:00Z","timestamp":1633305600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004923","name":"AFM-T\u00e9l\u00e9thon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008222","name":"Universit\u00e9 de Montpellier","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008222","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"Institut National de La Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004794","name":"Centre National de La Recherche Scientifique","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004794","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de La Recherche","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pharmacol."],"abstract":"<jats:p>The voltage-gated sodium channel Na<jats:sub>v<\/jats:sub>1.4 is a major actor in the excitability of skeletal myofibers, driving the muscle force in response to nerve stimulation. Supporting further this key role, mutations in <jats:italic>SCN4A<\/jats:italic>, the gene encoding the pore-forming \u03b1 subunit of Na<jats:sub>v<\/jats:sub>1.4, are responsible for a clinical spectrum of human diseases ranging from muscle stiffness (sodium channel myotonia, SCM) to muscle weakness. For years, only dominantly-inherited diseases resulting from Na<jats:sub>v<\/jats:sub>1.4 gain of function (GoF) were known, <jats:italic>i.e.<\/jats:italic>, non-dystrophic myotonia (delayed muscle relaxation due to myofiber hyperexcitability), <jats:italic>paramyotonia congenita<\/jats:italic> and hyperkalemic or hypokalemic periodic paralyses (episodic flaccid muscle weakness due to transient myofiber hypoexcitability). These last 5\u00a0years, <jats:italic>SCN4A<\/jats:italic> mutations inducing Na<jats:sub>v<\/jats:sub>1.4 loss of function (LoF) were identified as the cause of dominantly and recessively-inherited disorders with muscle weakness: periodic paralyses with hypokalemic attacks, congenital myasthenic syndromes and congenital myopathies. We propose to name this clinical spectrum sodium channel weakness (SCW) as the mirror of SCM. Na<jats:sub>v<\/jats:sub>1.4 LoF as a cause of permanent muscle weakness was quite unexpected as the Na<jats:sup>+<\/jats:sup> current density in the sarcolemma is large, securing the ability to generate and propagate muscle action potentials. The properties of <jats:italic>SCN4A<\/jats:italic> LoF mutations are well documented at the channel level in cellular electrophysiological studies However, much less is known about the functional consequences of Na<jats:sub>v<\/jats:sub>1.4 LoF in skeletal myofibers with no available pertinent cell or animal models. Regarding the therapeutic issues for Na<jats:sub>v<\/jats:sub>1.4 channelopathies, former efforts were aimed at developing subtype-selective Na<jats:sub>v<\/jats:sub> channel antagonists to block myofiber hyperexcitability. Non-selective, Na<jats:sub>v<\/jats:sub> channel blockers are clinically efficient in SCM and <jats:italic>paramyotonia congenita<\/jats:italic>, whereas patient education and carbonic anhydrase inhibitors are helpful to prevent attacks in periodic paralyses. Developing therapeutic tools able to counteract Na<jats:sub>v<\/jats:sub>1.4 LoF in skeletal muscles is then a new challenge in the field of Na<jats:sub>v<\/jats:sub> channelopathies. Here, we review the current knowledge regarding Na<jats:sub>v<\/jats:sub>1.4 LoF and discuss the possible therapeutic strategies to be developed in order to improve muscle force in SCW.<\/jats:p>","DOI":"10.3389\/fphar.2021.751095","type":"journal-article","created":{"date-parts":[[2021,10,4]],"date-time":"2021-10-04T06:49:17Z","timestamp":1633330157000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":17,"title":["New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases"],"prefix":"10.3389","volume":"12","author":[{"given":"Sophie","family":"Nicole","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Lory","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,10,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1080\/14712598.2018.1479739","article-title":"The Progress of AAV-Mediated Gene Therapy in Neuromuscular Disorders","volume":"18","author":"Aguti","year":"2018","journal-title":"Expert Opin. 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