{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13"],"submitter":["Madhavi K"],"pubmed_abstract":["•Blepharoclonus is defined as a brief clonic contraction of bilateral orbicularis oculi muscles on voluntary eye closure.•NBIA disorders like PKAN, PLAN and Kufor Rakeb disease have shown its association with blepharoclonus.•With this report, <i>VAC14</i> can also be added to the phenotype spectrum."],"journal":["Clinical parkinsonism & related disorders"],"pagination":["100386"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12765103"],"repository":["biostudies-literature"],"pubmed_title":["Blepharoclonus - a novel phenotypic association with a VAC14 variant."],"pmcid":["PMC12765103"],"pubmed_authors":["Prasad V","Kola S","Borgohain R","Madhavi K","Kandadai RM"],"additional_accession":[]},"is_claimable":false,"name":"Blepharoclonus - a novel phenotypic association with a VAC14 variant.","description":"•Blepharoclonus is defined as a brief clonic contraction of bilateral orbicularis oculi muscles on voluntary eye closure.•NBIA disorders like PKAN, PLAN and Kufor Rakeb disease have shown its association with blepharoclonus.•With this report, <i>VAC14</i> can also be added to the phenotype spectrum.","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2026-06-17T03:13:00.196Z","creation":"2026-06-17T03:06:54.571Z"},"accession":"S-EPMC12765103","cross_references":{"pubmed":["41492352"],"doi":["10.1016/j.prdoa.2025.100386"]}}