Blepharoclonus - a novel phenotypic association with a VAC14 variant - PubMed
5 hours ago
- #NBIA disorders
- #Blepharoclonus
- #VAC14
- Blepharoclonus is defined as brief clonic contractions of the bilateral orbicularis oculi muscles upon voluntary eye closure.
- NBIA disorders such as PKAN, PLAN, and Kufor Rakeb disease have been associated with blepharoclonus.
- A VAC14 variant is now identified as a novel phenotypic association with blepharoclonus, expanding the phenotype spectrum.