{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:19:27Z","timestamp":1791317967866,"version":"4.3.1"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,11,13]],"date-time":"2013-11-13T00:00:00Z","timestamp":1384300800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Dystonia is a common movement disorder. A number of monogenic causes have been identified. However, the majority of dystonia cases are not explained by single gene defects. Cervical dystonia is one of the commonest forms without genetic causes identified. This pilot study aimed to identify large effect\u2010size risk loci in cervical dystonia. A genomewide association study (GWAS) was performed. British resident cervical dystonia patients of European descent were genotyped using the Illumina\u2010610\u2010Quad. Comparison was made with controls of European descent from the Wellcome Trust Case Control Consortium using logistic regression algorithm from PLINK. SNPs not genotyped by the array were imputed with 1000 Genomes Project data using the MaCH algorithm and minimac. Postimputation analysis was done with the mach2dat algorithm using a logistic regression model. After quality control measures, 212 cases were compared with 5173 controls. No single SNP passed the genomewide significant level of 5 \u00d7 10\n                    <jats:sup>\u22128<\/jats:sup>\n                    in the analysis of genotyped SNP in PLINK. Postimputation, there were 5 clusters of SNPs that had\n                    <jats:italic>P<\/jats:italic>\n                    value &lt;5 \u00d7 10\n                    <jats:sup>\u22126<\/jats:sup>\n                    , and the best cluster of SNPs was found near exon 1 of\n                    <jats:italic>NALCN<\/jats:italic>\n                    , (sodium leak channel) with\n                    <jats:italic>P<\/jats:italic>\n                    = 9.76 \u00d7 10\n                    <jats:sup>\u22127<\/jats:sup>\n                    . Several potential regions were found in the GWAS and imputation analysis. The lowest\n                    <jats:italic>P<\/jats:italic>\n                    value was found in\n                    <jats:italic>NALCN<\/jats:italic>\n                    . Dysfunction of this ion channel is a plausible cause for dystonia. Further replication in another cohort is needed to confirm this finding. We make this data publicly available to encourage further analyses of this disorder. \u00a9 2013 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.\n                  <\/jats:p>","DOI":"10.1002\/mds.25732","type":"journal-article","created":{"date-parts":[[2013,11,13]],"date-time":"2013-11-13T18:02:26Z","timestamp":1384365746000},"page":"245-251","source":"Crossref","is-referenced-by-count":45,"title":["Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel"],"prefix":"10.1002","volume":"29","author":[{"given":"Kin Y.","family":"Mok","sequence":"first","affiliation":[{"name":"Department of Molecular Neuroscience University College London (UCL) Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne A.","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Kiel Kiel Germany"},{"name":"Sobell Department of Motor Neuroscience and Movement Disorders University College London (UCL) Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniah","family":"Trabzuni","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience University College London (UCL) Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Stamelou","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders University College London (UCL) Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Edwards","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders University College London (UCL) Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalia","family":"Kasperaviciute","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy University College London (UCL) Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart","family":"Pickering\u2010Brown","sequence":"additional","affiliation":[{"name":"University of Manchester Institute of Brain Behaviour and Mental Health Manchester United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monty","family":"Silverdale","sequence":"additional","affiliation":[{"name":"University of Manchester Institute of Brain Behaviour and Mental Health Manchester United Kingdom"},{"name":"Greater Manchester Neuroscience Centre Salford Royal Foundation Trust Greater Manchester United 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