{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T03:16:11Z","timestamp":1789269371162,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,5,17]],"date-time":"2018-05-17T00:00:00Z","timestamp":1526515200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2018,5,17]],"date-time":"2018-05-17T00:00:00Z","timestamp":1526515200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 NS34509"],"award-info":[{"award-number":["R01 NS34509"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 NS103090"],"award-info":[{"award-number":["R01 NS103090"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008457","name":"University of Virginia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008457","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002842","name":"Emergency Nurses Association Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002842","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001646","name":"Robert Bosch Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001646","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01 NS103090"],"award-info":[{"award-number":["R01 NS103090"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01 NS34509"],"award-info":[{"award-number":["R01 NS34509"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2018,7]]},"DOI":"10.1002\/humu.23547","type":"journal-article","created":{"date-parts":[[2018,5,4]],"date-time":"2018-05-04T02:54:02Z","timestamp":1525402442000},"page":"965-969","source":"Crossref","is-referenced-by-count":45,"title":["Partial loss-of-function of sodium channel <i>SCN8A<\/i>\n in familial isolated myoclonus"],"prefix":"10.1155","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3678-069X","authenticated-orcid":false,"given":"Jacy L.","family":"Wagnon","sequence":"first","affiliation":[{"name":"Department of Human Genetics; University of Michigan; Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niccol\u00f2 E.","family":"Mencacci","sequence":"additional","affiliation":[{"name":"Department of Neurology; Northwestern University; Chicago Illinois"},{"name":"Department of Molecular Neuroscience; UCL Institute of Neurology; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan S.","family":"Barker","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology; University of Virginia; Charlottesville Virginia"},{"name":"Neuroscience Graduate Program; University of Virginia; Charlottesville Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric R.","family":"Wengert","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology; University of Virginia; Charlottesville Virginia"},{"name":"Neuroscience Graduate Program; University of Virginia; Charlottesville Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kailash P.","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Sobell Department; Institute of Neurology; University College of London; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bettina","family":"Balint","sequence":"additional","affiliation":[{"name":"Sobell Department; Institute of Neurology; University College of London; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miryam","family":"Carecchio","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit; IRCCS Foundation Carlo Besta Neurological Institute; Milan Italy"},{"name":"Department of Pediatric Neurology; IRCCS Foundation Carlo Besta Neurological Institute; Milan Italy"},{"name":"Department of Medicine and Surgery; PhD Programme in Molecular and Translational Medicine; Milan Bicocca University; Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas W.","family":"Wood","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience; UCL Institute of Neurology; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manoj K.","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology; University of Virginia; Charlottesville Virginia"},{"name":"Neuroscience Graduate Program; University of Virginia; Charlottesville Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam H.","family":"Meisler","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; University of Michigan; Ann Arbor Michigan"},{"name":"Department of Neurology; University of Michigan; Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,5,17]]},"reference":[{"issue":"5","key":"10.1002\/humu.23547-BIB0001|humu23547-cit-0001","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/j.ejpn.2016.04.015","article-title":"Autosomal dominant SCN8A mutation with an unusually mild phenotype","volume":"20","author":"Anand","year":"2016","journal-title":"European Journal of Paediatric Neurology"},{"issue":"5","key":"10.1002\/humu.23547-BIB0002|humu23547-cit-0002","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1136\/jmedgenet-2014-102813","article-title":"De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy","volume":"52","author":"Blanchard","year":"2015","journal-title":"Journal of Medical Genetics"},{"issue":"4","key":"10.1002\/humu.23547-BIB0003|humu23547-cit-0003","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1038\/ng0895-461","article-title":"Mutation of a new sodium channel gene, Scn8a, in the mouse mutant \u2018motor endplate disease\u2019","volume":"10","author":"Burgess","year":"1995","journal-title":"Nature Genetics"},{"key":"10.1002\/humu.23547-BIB0004|humu23547-cit-0004","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.eplepsyres.2016.11.002","article-title":"De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis","volume":"129","author":"Butler","year":"2017","journal-title":"Epilepsy Research"},{"issue":"4","key":"10.1002\/humu.23547-BIB0005|humu23547-cit-0005","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1212\/WNL.0b013e31827f0798","article-title":"Metabolic changes in DYT11 myoclonus-dystonia","volume":"80","author":"Carbon","year":"2013","journal-title":"Neurology"},{"issue":"6","key":"10.1002\/humu.23547-BIB0006|humu23547-cit-0006","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1002\/mds.25506","article-title":"Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: A reappraisal of genetic testing criteria","volume":"28","author":"Carecchio","year":"2013","journal-title":"Movement Disorders"},{"issue":"1","key":"10.1002\/humu.23547-BIB0026|humu23547-cit-0026","doi-asserted-by":"crossref","first-page":"2077","DOI":"10.1038\/s41467-017-02262-0","article-title":"Voltage-gated sodium channels assemble and gate as dimers","volume":"8","author":"Clatot","year":"2017","journal-title":"Nature Communications"},{"key":"10.1002\/humu.23547-BIB0007|humu23547-cit-0007","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.nbd.2014.05.017","article-title":"A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy","volume":"69","author":"Estacion","year":"2014","journal-title":"Neurobiology of Disease"},{"issue":"3","key":"10.1002\/humu.23547-BIB0008|humu23547-cit-0008","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1002\/ana.24580","article-title":"Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation","volume":"79","author":"Gardella","year":"2016","journal-title":"Annals of Neurology"},{"issue":"6","key":"10.1002\/humu.23547-BIB0009|humu23547-cit-0009","first-page":"747","article-title":"A novel inherited mutation of SCN8A in a Korean family with benign familial infantile epilepsy using diagnostic exome sequencing","volume":"47","author":"Han","year":"2017","journal-title":"Annals of Clinical and Laboratory Science"},{"issue":"10","key":"10.1002\/humu.23547-BIB0010|humu23547-cit-0010","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1136\/jnnp.2010.232793","article-title":"Impaired saccadic adaptation in DYT11 dystonia","volume":"82","author":"Hubsch","year":"2011","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"10.1002\/humu.23547-BIB0011|humu23547-cit-0011","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.nbd.2016.01.018","article-title":"Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder","volume":"89","author":"Jones","year":"2016","journal-title":"Neurobiology of Disease"},{"issue":"22","key":"10.1002\/humu.23547-BIB0012|humu23547-cit-0012","doi-asserted-by":"crossref","first-page":"2765","DOI":"10.1093\/hmg\/11.22.2765","article-title":"Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6)","volume":"11","author":"Kearney","year":"2002","journal-title":"Human Molecular Genetics"},{"issue":"3","key":"10.1002\/humu.23547-BIB0013|humu23547-cit-0013","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nature Genetics"},{"issue":"2","key":"10.1002\/humu.23547-BIB0014|humu23547-cit-0014","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1152\/jn.01193.2005","article-title":"Impaired motor function in mice with cell-specific knockout of sodium channel Scn8a (NaV1.6) in cerebellar purkinje neurons and granule cells","volume":"96","author":"Levin","year":"2006","journal-title":"Journal of Neurophysiology"},{"issue":"7","key":"10.1002\/humu.23547-BIB0015|humu23547-cit-0015","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1111\/epi.13422","article-title":"SCN8A encephalopathy: Research progress and prospects","volume":"57","author":"Meisler","year":"2016","journal-title":"Epilepsia"},{"issue":"6","key":"10.1002\/humu.23547-BIB0016|humu23547-cit-0016","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1016\/j.ajhg.2015.04.008","article-title":"A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia","volume":"96","author":"Mencacci","year":"2015","journal-title":"American Journal of Human Genetics"},{"issue":"4","key":"10.1002\/humu.23547-BIB0017|humu23547-cit-0017","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1159\/000448369","article-title":"Gene panel testing in epileptic encephalopathies and familial epilepsies","volume":"7","author":"Moller","year":"2016","journal-title":"Molecular Syndromology"},{"key":"10.1002\/humu.23547-BIB0018|humu23547-cit-0018","doi-asserted-by":"crossref","first-page":"213","DOI":"10.3389\/fgene.2013.00213","article-title":"Sodium channel SCN8A (Nav1.6): Properties and de novo mutations in epileptic encephalopathy and intellectual disability","volume":"4","author":"O'Brien","year":"2013","journal-title":"Frontiers in Genetics"},{"issue":"3","key":"10.1002\/humu.23547-BIB0019|humu23547-cit-0019","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1093\/hmg\/8.3.471","article-title":"Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3","volume":"8","author":"Sprunger","year":"1999","journal-title":"Human Molecular Genetics"},{"issue":"6","key":"10.1002\/humu.23547-BIB0020|humu23547-cit-0020","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1136\/jmg.2005.035667","article-title":"Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation","volume":"43","author":"Trudeau","year":"2006","journal-title":"Journal of Medical Genetics"},{"issue":"3","key":"10.1002\/humu.23547-BIB0021|humu23547-cit-0021","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1016\/j.ajhg.2012.01.006","article-title":"De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP","volume":"90","author":"Veeramah","year":"2012","journal-title":"American Journal of Human Genetics"},{"issue":"2","key":"10.1002\/humu.23547-BIB0022|humu23547-cit-0022","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/acn3.276","article-title":"Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy","volume":"3","author":"Wagnon","year":"2016","journal-title":"Annals of Clinical and Translational Neurology"},{"issue":"4","key":"10.1002\/humu.23547-BIB0023|humu23547-cit-0023","doi-asserted-by":"crossref","first-page":"e170","DOI":"10.1212\/NXG.0000000000000170","article-title":"Loss-of-function variants of SCN8A in intellectual disability without seizures","volume":"3","author":"Wagnon","year":"2017","journal-title":"Neurology Genetics"},{"key":"10.1002\/humu.23547-BIB0024|humu23547-cit-0024","doi-asserted-by":"crossref","first-page":"104","DOI":"10.3389\/fneur.2015.00104","article-title":"Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy","volume":"6","author":"Wagnon","year":"2015","journal-title":"Frontiers in Neurology"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23547","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.23547","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:56:37Z","timestamp":1672332997000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23547"}},"subtitle":["WAGNON <scp>et\u00a0al.<\/scp>"],"short-title":[],"issued":{"date-parts":[[2018,5,17]]},"references-count":25,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,7]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23547","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2018,5,17]]}}}