A case report of a novel GNB1 pathogenic variant and the response to deep brain stimulation

Acta Neurol Belg. 2023 Apr;123(2):603-605. doi: 10.1007/s13760-022-01883-7. Epub 2022 Feb 5.

Authors

Gloria Rožmarić¹, Mario Hero², Valentino Rački^{2

3}, Vladimira Vuletić^{2

3}, Darko Chudy⁴, Borut Peterlin⁵

Affiliations

¹ Faculty of Medicine, University of Rijeka, Rijeka, Croatia. gloria.rozmaric@gmail.com.
² Clinic of Neurology, Clinical Hospital Center Rijeka, Rijeka, Croatia.
³ Department of Neurology, Faculty of Medicine, University of Rijeka, Rijeka, Croatia.
⁴ Department of Neurosurgery, University Hospital Dubrava, Zagreb, Croatia.
⁵ Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

PMID: 35122616
DOI: 10.1007/s13760-022-01883-7

No abstract available

Keywords: Case report; Deep brain stimulation; Dystonia; GNB1 mutation.

Publication types

Case Reports
Letter

MeSH terms

Deep Brain Stimulation*
GTP-Binding Protein beta Subunits* / metabolism
Globus Pallidus / metabolism
Humans
Treatment Outcome

Substances

GNB1 protein, human
GTP-Binding Protein beta Subunits