{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:28:39Z","timestamp":1761006519460,"version":"build-2065373602"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,11]],"date-time":"2016-03-11T00:00:00Z","timestamp":1457654400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/onlinelibrary.wiley.com\/journal\/10.1002\/(ISSN)2330-1619\/homepage\/mdc312328-sup-v001.htm\">View Supplementary Video 1<\/jats:ext-link><\/jats:p><jats:p>A 25\u2010year\u2010old right\u2010handed male presented with head and bilateral arm and leg tremor. His\u00a0symptoms began at age 10\u00a0years with action tremor of both hands and progressed in severity with time. He had difficulty with social interactions but did not have intellectual disabilities. His past medical history\u00a0was significant for obsessive compulsive disorder and anxiety, asthma, gastroesophageal reflux\u00a0disease, and scoliosis; and his family history was significant for tremor in his father and paternal\u00a0grandfather. Genetic testing was performed and identified a deleterious sequence variation in exon 19 of the calmodulin\u2010binding transcription activator 1 (<jats:italic><jats:styled-content style=\"fixed-case\">CAMTA<\/jats:styled-content>1<\/jats:italic>) gene. The presence of this sequence\u00a0variation was confirmed in the patient and in his affected father. The case is novel because of tremor predominance and because the mutation is a sequence variation rather than a deletion or duplication.<\/jats:p>","DOI":"10.1002\/mdc3.12328","type":"journal-article","created":{"date-parts":[[2016,3,12]],"date-time":"2016-03-12T16:45:43Z","timestamp":1457801143000},"page":"611-614","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel Nonsense Calmodulin\u2010Binding Transcription Activator 1 Mutation Presenting as a Tremor\u2010Predominant Phenotype"],"prefix":"10.1002","volume":"3","author":[{"given":"Shashank","family":"Agarwal","sequence":"first","affiliation":[{"name":"The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders Department of Neurology New York University School of Medicine New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Gilbert","sequence":"additional","affiliation":[{"name":"The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders Department of Neurology New York University School of Medicine New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather A.","family":"Lau","sequence":"additional","affiliation":[{"name":"Division of Neurogenetics Department of Neurology New York University School of Medicine New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,3,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100856"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12407"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2013.09.008"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34177"},{"key":"e_1_2_6_6_1","unstructured":"National Center for Biotechnology Information (NCBI).CAMTA1 calmodulin binding transcription activator 1 (Homo sapiens [human]). Gene ID: 23261. Available at:http:\/\/www.ncbi.nlm.nih.gov\/gene\/23261."}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12328","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12328","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.12328","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:14:57Z","timestamp":1760951697000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.12328"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,11]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1002\/mdc3.12328"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.12328","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"type":"print","value":"2330-1619"},{"type":"electronic","value":"2330-1619"}],"subject":[],"published":{"date-parts":[[2016,3,11]]},"assertion":[{"value":"2015-09-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-12-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-03-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}