{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T11:40:52Z","timestamp":1792410052783,"version":"4.4.0"},"reference-count":12,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T00:00:00Z","timestamp":1619049600000},"content-version":"am","delay-in-days":356,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100008211","name":"Association France Parkinson","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008211","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","prd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism &amp; Related Disorders"],"published-print":{"date-parts":[[2020,5]]},"DOI":"10.1016\/j.parkreldis.2020.04.003","type":"journal-article","created":{"date-parts":[[2020,4,20]],"date-time":"2020-04-20T02:18:50Z","timestamp":1587349130000},"page":"50-56","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":56,"special_numbering":"C","title":["Increased diagnostic yield in complex dystonia through exome sequencing"],"prefix":"10.1016","volume":"74","author":[{"given":"Thomas","family":"Wirth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Tranchant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Drouot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Cif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romain","family":"Lefaucheur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Lion-Fran\u00e7ois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"M\u00e9neret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domitille","family":"Gras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Laroche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Burbaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Bannier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ouhaid","family":"Lagha-Boukbiza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Aude","family":"Spitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Laugel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu","family":"Bereau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Ollivier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nitschke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Doummar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Rudolf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Anheim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamel","family":"Chelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.parkreldis.2020.04.003_bib1","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/mds.26527","article-title":"Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force","volume":"31","author":"Marras","year":"2016","journal-title":"Mov. Disord."},{"key":"10.1016\/j.parkreldis.2020.04.003_bib2","doi-asserted-by":"crossref","DOI":"10.1001\/jamaneurol.2018.1478","article-title":"French Parkinson's and movement disorders consortium, assessment of a targeted gene panel for identification of genes associated with movement disorders","author":"Montaut","year":"2018","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.parkreldis.2020.04.003_bib3","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1111\/cge.12636","article-title":"Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome","volume":"89","author":"Dimassi","year":"2016","journal-title":"Clin. Genet."},{"key":"10.1016\/j.parkreldis.2020.04.003_bib4","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1002\/mds.25475","article-title":"Phenomenology and classification of dystonia: a consensus update","volume":"28","author":"Albanese","year":"2013","journal-title":"Mov. Disord."},{"key":"10.1016\/j.parkreldis.2020.04.003_bib5","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1038\/ng.2613","article-title":"Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly","volume":"45","author":"Poirier","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.parkreldis.2020.04.003_bib6","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and Genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.parkreldis.2020.04.003_bib7","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1002\/humu.22901","article-title":"Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability","volume":"36","author":"Grozeva","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.parkreldis.2020.04.003_bib8","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1002\/mds.26704","article-title":"A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene","volume":"31","author":"Schottmann","year":"2016","journal-title":"Mov. Disord."},{"key":"10.1016\/j.parkreldis.2020.04.003_bib9","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1001\/jamaneurol.2017.1714","article-title":"Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes","volume":"74","author":"de Kovel","year":"2017","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.parkreldis.2020.04.003_bib10","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1038\/ejhg.2015.92","article-title":"Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay","volume":"24","author":"Saitsu","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.parkreldis.2020.04.003_bib11","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/mds.26070","article-title":"RELN rare variants in myoclonus-dystonia","volume":"30","author":"Groen","year":"2015","journal-title":"Mov. Disord."},{"key":"10.1016\/j.parkreldis.2020.04.003_bib12","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.ajhg.2017.09.008","article-title":"High rate of recurrent de novo mutations in developmental and epileptic encephalopathies","volume":"101","author":"Hamdan","year":"2017","journal-title":"Am. J. Hum. Genet."}],"container-title":["Parkinsonism &amp; Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802020300985?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802020300985?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:18:21Z","timestamp":1761178701000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802020300985"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5]]},"references-count":12,"alternative-id":["S1353802020300985"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2020.04.003","relation":{},"ISSN":["1353-8020"],"issn-type":[{"value":"1353-8020","type":"print"}],"subject":[],"published":{"date-parts":[[2020,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Increased diagnostic yield in complex dystonia through exome sequencing","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2020.04.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}