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There are case reports of nondystrophic myotonia due to mutations in the C\u2010terminal tail (CTerm) of Nav1.4, but the functional analysis is scarce.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present two families with nondystrophic myotonia harboring a novel heterozygous mutation (E1702del) and a known heterozygous mutation (E1702K).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband with E1702K exhibited repeated rhabdomyolysis, and the daughter showed laryngospasm and cyanosis. Functional analysis of the two mutations as well as another known heterozygous mutation (T1700_E1703del), all located on EF hand\u2010like motif in CTerm, was conducted with whole\u2010cell recording of heterologously expressed channel. All mutations displayed impaired fast inactivation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>The CTerm of Nav1.4 is vital for regulating fast inactivation. The study highlights the importance of accumulating pathological mutations of Nav1.4 and their functional analysis data.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.26849","type":"journal-article","created":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T11:15:02Z","timestamp":1583320502000},"page":"808-814","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["EF hand\u2010like motif mutations of Nav1.4 C\u2010terminus cause myotonic syndrome by impairing fast inactivation"],"prefix":"10.1002","volume":"61","author":[{"given":"Riho","family":"Horie","sequence":"first","affiliation":[{"name":"Department of Functional Diagnostic Science Osaka University Graduate School of Medicine  Yamadaoka, Suita, Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoya","family":"Kubota","sequence":"additional","affiliation":[{"name":"Department of Functional Diagnostic Science Osaka University Graduate School of Medicine  Yamadaoka, Suita, Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinsoo","family":"Koh","sequence":"additional","affiliation":[{"name":"Department of Neurology Wakayama Medical University  Kimiidera, Wakayama, Wakayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rieko","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Nanairo Kodomo Clinic  Fukiage, Wakayama, Wakayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuichiro","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Functional Diagnostic Science Osaka University Graduate School of Medicine  Yamadaoka, Suita, Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryogen","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kuwana City Medical Center  Kotobukicho, Kuwana Mie Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidefumi","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Neurology Wakayama Medical University  Kimiidera, Wakayama, Wakayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori P.","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Functional Diagnostic Science Osaka University Graduate School of Medicine  Yamadaoka, Suita, Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,3,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nurt.2007.01.012"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-005-0461-x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(96)00418-X"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000335269.21550.0e"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-3289"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)30021-7"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10238"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.15252\/embj.201593285"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2012.05.023"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.1998.685bj.x"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1995.sp020864"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.22.10905"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.22.10910"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-22713-y"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-09570-7"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(01)03239-2"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aau2486"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.29.051605.112815"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2005.082909"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21155"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(99)77249-8"},{"key":"e_1_2_8_23_1","first-page":"876","article-title":"Visual identification of individual transfected cells for electrophysiology using antibody\u2010coated beads","volume":"17","author":"Jurman ME","year":"1994","journal-title":"BioTechniques."},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20241"},{"key":"e_1_2_8_25_1","unstructured":"ExAC Browser.http:\/\/exac.broadinstitute.org\/. 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