{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T11:18:43Z","timestamp":1743160723275},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,10,8]],"date-time":"2014-10-08T00:00:00Z","timestamp":1412726400000},"content-version":"vor","delay-in-days":37,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:p>The association between hereditary myotonic disorders and epilepsy is seldom described in the literature. To date, few reports have dealt with dystrophic myotonias, whereas a single case demonstrating an association between sporadic congenital myotonia and epilepsy was recently reported in a patient carrying a <jats:italic>de novo<\/jats:italic> mutation of the <jats:italic>CLCN1<\/jats:italic> gene. Additional evidence for a role of <jats:italic>CLCN1<\/jats:italic> in the pathogenesis of epilepsy is derived from large\u2010scale exome analysis of ion channel variants and expression studies. Here, we describe the first case of association between familial Thomsen myotonia and epilepsy. All the affected members of a two\u2010generation family presented myotonia and disclosed a pathogenic mutation in <jats:italic>CLCN1<\/jats:italic>. In addition, one individual experienced epileptic seizures due to limbic encephalitis (LE) with anti\u2010GAD antibodies. The occurrence of the two diseases in this patient could be a chance association, however, <jats:italic>CLCN1<\/jats:italic> mutation, as a susceptibility factor for epilepsy through dysfunction of GABA<jats:sub><jats:sc>a<\/jats:sc><\/jats:sub> inhibitory signalling, cannot be ruled out as a possible influence.<\/jats:p>","DOI":"10.1684\/epd.2014.0668","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:44Z","timestamp":1564752284000},"page":"362-365","source":"Crossref","is-referenced-by-count":3,"title":["Limbic encephalitis with anti\u2010GAD antibodies and Thomsen myotonia: a casual or causal association?"],"prefix":"10.1002","volume":"16","author":[{"given":"Laura","family":"Licchetta","sequence":"first","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Bisulli","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Naldi","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greta","family":"Mainieri","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Tinuper","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna"},{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,10,8]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182886a2c"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03031.x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31828868e7"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000142093.94998.1A"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-010-0816-2"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.1.33"},{"key":"e_1_2_4_8_1","first-page":"343","article-title":"Myotonic dystrophy and epilepsy","volume":"4","author":"Kajal HL","year":"2003","journal-title":"JIACM"},{"key":"e_1_2_4_9_1","first-page":"98","article-title":"Diagnostics and therapy of muscle channelopathies\u2010Guidelines of the Ulm Muscle Centre","volume":"27","author":"Lehmann\u2010Horn F","year":"2008","journal-title":"Acta Myol"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1397"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21123"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneuroim.2008.05.015"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp294"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002340050385"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0110-3"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.57.8.1199"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02644.x"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/08916930701619565"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2014.0668","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:05:43Z","timestamp":1710777943000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2014.0668"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1684\/epd.2014.0668"],"URL":"https:\/\/doi.org\/10.1684\/epd.2014.0668","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9]]}}}