<HashMap><database>biostudies-literature</database><scores/><additional><omics_type>Unknown</omics_type><volume>13</volume><submitter>Madhavi K</submitter><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, &lt;i>VAC14&lt;/i> can also be added to the phenotype spectrum.</pubmed_abstract><journal>Clinical parkinsonism &amp; related disorders</journal><pagination>100386</pagination><full_dataset_link>https://www.ebi.ac.uk/biostudies/studies/S-EPMC12765103</full_dataset_link><repository>biostudies-literature</repository><pubmed_title>Blepharoclonus - a novel phenotypic association with a VAC14 variant.</pubmed_title><pmcid>PMC12765103</pmcid><pubmed_authors>Prasad V</pubmed_authors><pubmed_authors>Kola S</pubmed_authors><pubmed_authors>Borgohain R</pubmed_authors><pubmed_authors>Madhavi K</pubmed_authors><pubmed_authors>Kandadai RM</pubmed_authors></additional><is_claimable>false</is_claimable><name>Blepharoclonus - a novel phenotypic association with a VAC14 variant.</name><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, &lt;i>VAC14&lt;/i> can also be added to the phenotype spectrum.</description><dates><release>2025-01-01T00:00:00Z</release><publication>2025</publication><modification>2026-06-17T03:13:00.196Z</modification><creation>2026-06-17T03:06:54.571Z</creation></dates><accession>S-EPMC12765103</accession><cross_references><pubmed>41492352</pubmed><doi>10.1016/j.prdoa.2025.100386</doi></cross_references></HashMap>