An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

(2021) Stephen Tisch et al.   Frontiers in Neurology

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

(2021) Brian S. Muntean et al.   Cell Reports

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review

(2021) Kazuki Watanabe et al.   JOURNAL OF HUMAN GENETICS

Phenotypes of GNAO1 Variants in a Chinese Cohort

(2021) Xiaoling Yang et al.   Frontiers in Neurology

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia

(2021) Martina Di Rocco et al.   HUMAN MOLECULAR GENETICS

Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1-associated movement disorder: A case report

(2020) Yuri Yamashita et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

(2019) McKenna Kelly et al.   EPILEPSIA

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

(2019) Dorota Monies et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Parental mosaicism in epilepsies due to alleged de novo variants

(2019) Rikke S. Møller et al.   EPILEPSIA

Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms

(2018) Lucia Abela et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia

(2018) Anne Koy et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A mechanistic review on GNAO1 -associated movement disorder

(2018) Huijie Feng et al.   NEUROBIOLOGY OF DISEASE

Parental Mosaicism in “De Novo” Epileptic Encephalopathies

(2018) Candace T. Myers et al.   NEW ENGLAND JOURNAL OF MEDICINE

Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review

(2018) Tommaso Schirinzi et al.   PARKINSONISM & RELATED DISORDERS

Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations

(2017) Huijie Feng et al.   NEUROLOGY

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

(2013) Kazuyuki Nakamura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular basis of a novel oncogenic mutation in GNAO1

(2011) M Garcia-Marcos et al.   ONCOGENE