A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?
Mov Disord
.
2024 May;39(5):918-920.
doi: 10.1002/mds.29765.
Epub 2024 Feb 28.
Authors
Mariana H G Monje
1
,
Joanna Sarah Blackburn
2
,
Lisa Kinsley
1
,
Dimitri Krainc
1
3
,
Niccolò E Mencacci
1
3
Affiliations
1
Ken and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
2
Division of Child Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, Chicago, Illinois, USA.
3
Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
PMID:
38419191
PMCID:
PMC11102706
(available on
2025-05-01
)
DOI:
10.1002/mds.29765
No abstract available
Keywords:
GNAI1; GNAO1; dystonia; genetic modifier.
Publication types
Case Reports
Letter
MeSH terms
Dystonia* / genetics
Female
GTP-Binding Protein alpha Subunits, Gi-Go* / genetics
Humans
Male
Severity of Illness Index
Substances
GNAO1 protein, human
Grants and funding
K08 NS131581/NS/NINDS NIH HHS/United States
1K08NS131581-01A1/NH/NIH HHS/United States