Dopa-responsive Dystonia Associated with Novel SHQ-1 Variants (P10-5.007)
To present a case of treatable dystonia, initially diagnosed as cerebral palsy, related to two novel variants of the SHQ1 gene.
Authors
- V. Armengol
- Taylor Peabody (ORCID: https://orcid.org/0000-0003-1793-630X)
- Matthew Feldman (ORCID: https://orcid.org/0000-0003-2307-0880)
- Jason Margolesky
- Shruti Karnani
Institutions
- University of Miami (US)
- Jackson Memorial Hospital (US)
- Jackson Health System (US)
- Centre for Movement Disorders (CA)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000210561
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00