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The two most common forms of adult-onset focal dystonia are cervical dystonia (CD) and benign essential blepharospasm (BSP). A total of 121 patients (CD, 74; BSP, 47) were included in the study. The average age of the patients was 64 years. For the next-generation sequencing (NGS) approach, 30 genes were selected on the basis of a thorough search of the scientific literature. Assessment of 30 CD- and BSP-associated genes from 121 patients revealed a total of 209 different heterozygous variants in 24 genes. Established clinical and genetic validity was determined for nine heterozygous variations (three likely pathogenic and six variants of uncertain significance). Detailed genetic examination is an important part of the work-up for focal dystonia forms. To our knowledge, our investigation is the first such study to be carried out in the Middle-European region.<\/jats:p>","DOI":"10.3390\/ijms241310745","type":"journal-article","created":{"date-parts":[[2023,6,28]],"date-time":"2023-06-28T00:25:21Z","timestamp":1687911921000},"page":"10745","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9946-8230","authenticated-orcid":false,"given":"Andr\u00e1s","family":"Salamon","sequence":"first","affiliation":[{"name":"Department of Neurology, University of Szeged, 6, Semmelweis Str., H-6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6476-1181","authenticated-orcid":false,"given":"Zs\u00f3fia Fl\u00f3ra","family":"Nagy","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Szeged, 4, Somogyi B\u00e9la Str., H-6720 Szeged, Hungary"},{"name":"Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 78\/b, \u00dcll\u0151i Str., H-1083 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3662-0837","authenticated-orcid":false,"given":"Margit","family":"P\u00e1l","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Szeged, 4, Somogyi B\u00e9la Str., H-6720 Szeged, Hungary"},{"name":"ELKH-SZTE Functional Clinical Genetics Research Group, E\u00f6tv\u00f6s Lor\u00e1nd Research Network, 4, Somogyi B\u00e9la Str., H-6720 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1t\u00e9","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Szeged, 6, Semmelweis Str., H-6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1d\u00e1m","family":"Cs\u0151sz","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Szeged, 6, Semmelweis Str., H-6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e1szl\u00f3","family":"Szpisjak","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Szeged, 6, Semmelweis Str., H-6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"G\u00e1rdi\u00e1n","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Szeged, 6, Semmelweis Str., H-6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0749-7980","authenticated-orcid":false,"given":"D\u00e9nes","family":"Z\u00e1dori","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Szeged, 6, Semmelweis Str., H-6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rta","family":"Sz\u00e9ll","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Szeged, 4, Somogyi B\u00e9la Str., H-6720 Szeged, Hungary"},{"name":"ELKH-SZTE Functional Clinical Genetics Research Group, E\u00f6tv\u00f6s Lor\u00e1nd Research Network, 4, Somogyi B\u00e9la Str., H-6720 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5389-3266","authenticated-orcid":false,"given":"P\u00e9ter","family":"Kliv\u00e9nyi","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Szeged, 6, Semmelweis Str., H-6725 Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,28]]},"reference":[{"key":"ref_1","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. 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