Whole‐exome sequencing for variant discovery in blepharospasm
Abstract
Blepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset. Although several genetic etiologies for dystonia have been identified through whole‐exome sequencing (WES), none of these are characteristically associated with BSP as a singular or predominant manifestation.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- May 16, 2018
- Source ID
- 10.1002/mgg3.411
Entities
People
- Angelo Fabio Gigante
- Elizabeth J. Trimble
- Enza Maria Valente
- Giovanni Defazio
- Jay A. Van Gerpen
- Jianfeng Xiao
- Jun Tian
- Kathleen D. Kennelly
- Mark S LeDoux
- Monika Rudzińska‐bar
- Peter Hedera
- Ryan J. Uitti
- Satya R Vemula
- Simona Petrucci
- Zbigniew K Wszolek
Organizations
- Benign Essential Blepharospasm Research Foundation
- Mayo Clinic Hospital – Jacksonville
- Medical University of Silesia
- National Institute of Neurological Disorders and Stroke
- National Institute on Aging
- Sapienza University of Rome
- United States Department of Defense
- University of Cagliari
- University of Pavia
- University of Tennessee Health Science Center
- Vanderbilt University
- Zhejiang University