A <scp><i>GNAI1</i></scp> Pathogenic Variant in a Case with <scp><i>GNAO1</i></scp>‐Isolated Dystonia: A Modifier of Disease Severity?-Reference-Cited by-同舟云学术

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A GNAI1 Pathogenic Variant in a Case with GNAO1‐Isolated Dystonia: A Modifier of Disease Severity?

Published:2024-02-28 Issue:5 Volume:39 Page:918-920
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Monje Mariana H.G.¹^ORCID,Blackburn Joanna Sarah²,Kinsley Lisa¹,Krainc Dimitri¹³,Mencacci Niccolò E.¹³^ORCID

Affiliation:

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

Funder

National Institutes of Health

Publisher

Wiley

Reference7 articles.

1. Emerging and converging molecular mechanisms in dystonia

2. Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders

4. Highlighting the Dystonic Phenotype Related to GNAO1

5. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

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