Blepharoclonus - a novel phenotypic association with a VAC14 variant.

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, VAC14 can also be added to the phenotype spectrum.

SUBMITTER: Madhavi K 

PROVIDER: S-EPMC12765103 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature