{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14"],"submitter":["Storck A"],"pubmed_abstract":["•<i>VPS11</i> is associated with hypomyelinated leukodystrophy affecting children.•A single case of adult-onset generalized dystonia was reported.•We provide the first replication by describing a second case of complex dystonia related to biallelic variants in <i>VPS11</i>."],"journal":["Clinical parkinsonism & related disorders"],"pagination":["100419"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12808586"],"repository":["biostudies-literature"],"pubmed_title":["Confirmation of biallelic &lt;i&gt;VPS11&lt;/i&gt; variants as a cause of complex dystonic syndrome."],"pmcid":["PMC12808586"],"pubmed_authors":["Antal MC","Abiwarde MT","Lebre AS","Hardy G","Anheim M","Scheidecker S","Storck A","Wirth T"],"additional_accession":[]},"is_claimable":false,"name":"Confirmation of biallelic &lt;i&gt;VPS11&lt;/i&gt; variants as a cause of complex dystonic syndrome.","description":"•<i>VPS11</i> is associated with hypomyelinated leukodystrophy affecting children.•A single case of adult-onset generalized dystonia was reported.•We provide the first replication by describing a second case of complex dystonia related to biallelic variants in <i>VPS11</i>.","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026","modification":"2026-06-06T14:45:04.689Z","creation":"2026-06-01T03:07:15.689Z"},"accession":"S-EPMC12808586","cross_references":{"pubmed":["41551069"],"doi":["10.1016/j.prdoa.2025.100419"]}}