{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T12:15:36Z","timestamp":1768997736984,"version":"3.49.0"},"reference-count":31,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2009,4,3]],"date-time":"2009-04-03T00:00:00Z","timestamp":1238716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Nervous and Mental Disorders from the Ministry of Health, Labour and Welfare, Japan","award":["20B-13"],"award-info":[{"award-number":["20B-13"]}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2009,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Myotonia manifests in several hereditary diseases, including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PMC), and potassium\u2010aggravated myotonia (PAM). These are allelic disorders originating from missense mutations in the gene that codes the skeletal muscle sodium channel, Nav1.4. Moreover, a severe form of PAM has been designated as myotonia permanens. A new mutation of Nav1.4, Q1633E, was identified in a Japanese family presenting with the PAM phenotype. The proband suffered from cyanotic attacks during infancy. The mutated amino acid residue is located on the EF\u2010hand calcium\u2010binding motif in the intracellular C\u2010terminus. A functional analysis of the mutant channel using the voltage\u2010clamp method revealed disruption of fast inactivation, a slower rate of current decay, and a depolarized shift in the voltage dependence of availability. This study has identified a new mutation of PAM with a severe phenotype and emphasizes the importance of the C\u2010terminus for fast inactivation of the sodium channel. Muscle Nerve 39: 666\u2013673, 2009<\/jats:p>","DOI":"10.1002\/mus.21155","type":"journal-article","created":{"date-parts":[[2009,4,3]],"date-time":"2009-04-03T14:17:29Z","timestamp":1238768249000},"page":"666-673","source":"Crossref","is-referenced-by-count":37,"title":["New mutation of the Na channel in the severe form of potassium\u2010aggravated myotonia"],"prefix":"10.1002","volume":"39","author":[{"given":"Tomoya","family":"Kubota","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanobu","family":"Kinoshita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryogen","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Futoshi","family":"Aoike","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori P.","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saburo","family":"Sakoda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiko","family":"Hirose","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,4,3]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.8.921"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.8.1266"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.29.051605.112815"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)81133-2"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000223838.88872.da"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20070255"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M605473200"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.1998.685bj.x"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.7.1447"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nurt.2007.01.012"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.9.1349"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880130609"},{"key":"e_1_2_7_14_2","first-page":"1257","volume-title":"Myology","author":"Lehmann\u2010Horn F","year":"2004"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1993.sp019843"},{"key":"e_1_2_7_16_2","first-page":"1227","article-title":"Myotonia congenita\u2010ho ichi\u2010kekei (one family of amyotonin congenita)","volume":"33","author":"Maekawa K","year":"1970","journal-title":"Shonika Shinryo"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1994.sp020260"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1995.sp020864"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20178"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1990.00530030034012"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1994.00540230033009"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M104471200"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(96)00418-X"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.56.6.692"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880130608"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.7.1122"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(99)77249-8"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-005-0461-x"},{"key":"e_1_2_7_29_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.99.24.3165"},{"key":"e_1_2_7_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb737"},{"key":"e_1_2_7_31_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2005.082909"},{"key":"e_1_2_7_32_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.7.878"}],"container-title":["Muscle &amp; 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