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The etiopathogenesis is complex, both genetic and environmental factors playing a role, but remains elusive. The CACNA1B gene codes for the N-type neuronal voltage-gated calcium channels CaV2.2, which may play a role in the development of some IFD.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We analyzed samples from the GENDYS cohort for mutations in CACNA1B gene, using targeted next-generation sequencing (NGS).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The GENDYS cohort consists of 120 people with adult-onset IFD (cervical dystonia 47.5%, blepharospasm 47.2%, others 8.3%). Of these, 35% had subsequent topographical extension. Average age at onset was 42 and average disease durations 8\u00a0years. Targeted NGS revealed a novel frameshift mutation c.2291AGG\u2009&gt;\u2009A, in exon 19, and a previously reported variant, c.6834T\u2009&gt;\u2009G, in exon 47.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Our findings suggest that disease-causing mutations in CACNA1B gene may be involved in the development of some adult-onset IFD. To our knowledge, this is the first study that identified a disease-causing CACNA1B gene mutation in association with adult-onset IFD.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s10072-020-04778-8","type":"journal-article","created":{"date-parts":[[2020,10,13]],"date-time":"2020-10-13T19:02:57Z","timestamp":1602615777000},"page":"1113-1117","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["CACNA1B gene variants in adult-onset isolated focal dystonia"],"prefix":"10.1007","volume":"42","author":[{"given":"Relu","family":"Coco\u0219","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florina","family":"Raicu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ovidiu Lucian","family":"B\u0103jenaru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iulia","family":"Olaru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Dumitrescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4826-2598","authenticated-orcid":false,"given":"Bogdan Ovidiu","family":"Popescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,10,13]]},"reference":[{"issue":"1","key":"4778_CR1","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1111\/ene.13762","volume":"26","author":"A Albanese","year":"2019","unstructured":"Albanese A, Di Giovanni M, Lalli S (2019) Dystonia: diagnosis and management. 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