{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T14:04:58Z","timestamp":1788962698387,"version":"build-2803163510"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,12,1]]},"DOI":"10.1093\/brain\/awm248","type":"journal-article","created":{"date-parts":[[2007,10,11]],"date-time":"2007-10-11T20:33:44Z","timestamp":1192134824000},"page":"3265-3274","source":"Crossref","is-referenced-by-count":105,"title":["Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions"],"prefix":"10.1093","volume":"130","author":[{"given":"D.","family":"Fialho","sequence":"first","affiliation":[{"name":"Department of Molecular Neuroscience and Department of Clinical and Experimental Epilepsy, MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL and National Hospital for Neurology, Queen Square, London and 2Department of Neurology, Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Schorge","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience and Department of Clinical and Experimental Epilepsy, MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL and National Hospital for Neurology, Queen Square, London and 2Department of Neurology, Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Pucovska","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience and Department of Clinical and Experimental Epilepsy, MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL and National Hospital for Neurology, Queen Square, London and 2Department of Neurology, Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. P.","family":"Davies","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience and Department of Clinical and Experimental Epilepsy, MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL and National Hospital for Neurology, Queen Square, London and 2Department of Neurology, Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Labrum","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience and Department of Clinical and Experimental Epilepsy, MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL and National Hospital for Neurology, Queen Square, London and 2Department of Neurology, Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Haworth","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience and Department of Clinical and Experimental Epilepsy, MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL and National Hospital for Neurology, Queen Square, London and 2Department of Neurology, Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Stanley","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience and Department of Clinical and Experimental Epilepsy, MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL and National Hospital for Neurology, Queen Square, London and 2Department of Neurology, Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Sud","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience and Department of Clinical and Experimental Epilepsy, MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL and National Hospital for Neurology, Queen Square, London and 2Department of Neurology, Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Wakeling","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience and Department of Clinical and Experimental Epilepsy, MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL and National Hospital for Neurology, Queen Square, London and 2Department of Neurology, Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. B.","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience and Department of Clinical and Experimental Epilepsy, MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL and National Hospital for Neurology, Queen Square, London and 2Department of Neurology, Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. M.","family":"Kullmann","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience and Department of Clinical and Experimental Epilepsy, MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL and National Hospital for Neurology, Queen Square, London and 2Department of Neurology, Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. G.","family":"Hanna","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience and Department of Clinical and Experimental Epilepsy, MRC Centre for Neuromuscular Disease, Institute of Neurology, UCL and National Hospital for Neurology, Queen Square, London and 2Department of Neurology, Muscle and Nerve Centre, Queen Elizabeth Hospital, University of Birmingham NHS Trust, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2007,10,11]]},"reference":[{"key":"key\n\t\t\t\t20180324095304_B1","volume-title":"Myotonia congenita and syndromes associated with myotonia.","author":"Becker","year":"1977"},{"key":"key\n\t\t\t\t20180324095304_B2","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/mus.20295","article-title":"Phenotypic variability in myotonia congenita","volume":"32","author":"Colding-Jorgensen","year":"2005","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20180324095304_B3","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1002\/mus.10347","article-title":"Decrement of compound muscle action potential is related to mutation type in myotonia congenita","volume":"27","author":"Colding-Jorgensen","year":"2003","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20180324095304_B4","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1097\/00019052-200110000-00001","article-title":"The skeletal muscle channelopathies: basic science, clinical genetics and treatment","volume":"14","author":"Davies","year":"2001","journal-title":"Curr Opin Neurol"},{"key":"key\n\t\t\t\t20180324095304_B5","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1085\/jgp.20028741","article-title":"Involvement of helices at the dimer interface in ClC-1 common gating","volume":"121","author":"Duffield","year":"2003","journal-title":"J Gen Physiol"},{"key":"key\n\t\t\t\t20180324095304_B6","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/415287a","article-title":"X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity","volume":"415","author":"Dutzler","year":"2002","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180324095304_B7","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1038\/ng0493-305","article-title":"Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)","volume":"3","author":"George","year":"1993","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180324095304_B8","first-page":"2071","article-title":"Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita","volume":"3","author":"George","year":"1994","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180324095304_B9","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1126\/science.1379744","article-title":"The skeletal muscle chloride channel in dominant and recessive human myotonia","volume":"257","author":"Koch","year":"1992","journal-title":"Science"},{"key":"key\n\t\t\t\t20180324095304_B10","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1093\/hmg\/7.11.1753","article-title":"ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence","volume":"7","author":"Kubisch","year":"1998","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180324095304_B11","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1152\/physrev.1999.79.4.1317","article-title":"Voltage-gated ion channels and hereditary disease","volume":"79","author":"Lehmann-Horn","year":"1999","journal-title":"Physiol Rev"},{"key":"key\n\t\t\t\t20180324095304_B12","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1085\/jgp.50.1.89","article-title":"Sodium, potassium, and chloride fluxes in intercostal muscle from normal goats and goats with hereditary myotonia","volume":"50","author":"Lipicky","year":"1966","journal-title":"J Gen Physiol"},{"key":"key\n\t\t\t\t20180324095304_B13","first-page":"1325","article-title":"Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia","volume":"57","author":"Meyer-Kleine","year":"1995","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180324095304_B14","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1038\/nature04713","article-title":"ClC chloride channels viewed through a transporter lens","volume":"440","author":"Miller","year":"2006","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180324095304_B15","doi-asserted-by":"crossref","first-page":"1697","DOI":"10.1212\/WNL.55.11.1697","article-title":"A \u2018dystrophic\u2019 variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene","volume":"55","author":"Nagamitsu","year":"2000","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180324095304_B16","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1212\/WNL.53.2.297","article-title":"Founder mutations and the high prevalence of myotonia congenita in northern Finland","volume":"53","author":"Papponen","year":"1999","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180324095304_B17","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1212\/WNL.50.4.1176","article-title":"Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance","volume":"50","author":"Plassart-Schiess","year":"1998","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180324095304_B18","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1016\/0896-6273(95)90023-3","article-title":"Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel","volume":"15","author":"Pusch","year":"1995","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180324095304_B19","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1085\/jgp.113.3.457","article-title":"The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia","volume":"113","author":"Saviane","year":"1999","journal-title":"J Gen Physiol"},{"key":"key\n\t\t\t\t20180324095304_B20","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1038\/sj.ejhg.5200736","article-title":"Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia","volume":"9","author":"Sun","year":"2001","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20180324095304_B21","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1212\/WNL.54.4.937","article-title":"Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita","volume":"54","author":"Zhang","year":"2000","journal-title":"Neurology"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/130\/12\/3265\/24475836\/awm248.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,3,24]],"date-time":"2018-03-24T09:53:15Z","timestamp":1521885195000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/130\/12\/3265\/285201"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10,11]]},"references-count":21,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2007,10,11]]},"published-print":{"date-parts":[[2007,12,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awm248","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published-other":{"date-parts":[[2007,12]]},"published":{"date-parts":[[2007,10,11]]}}}