Phenotypic diversity in GNAO1 patients: a comprehensive overview of variants and phenotypes

M Sáez González, K Kloosterhuis, L van de Pol… - Human …, 2023 - Wiley Online Library
GNAO1 disorder is a rare autosomal dominant neurodevelopmental syndrome that is
clinically manifested by developmental delay,(early onset) epilepsy, and movement …

Potential clinical applications of advanced genomic analysis in cerebral palsy

SA Lewis, A Ruttenberg, T Iyiyol, N Kong, SC Jin… - …, 2024 - thelancet.com
Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging
research suggests that genetic variations are also important causes of CP. While microarray …

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R

YA Larasati, GP Solis, A Koval, ST Griffiths… - Cells, 2023 - mdpi.com
De novo mutations in GNAO1, the gene encoding the major neuronal G protein Gαo, cause
a spectrum of pediatric encephalopathies with seizures, motor dysfunction, and …

Phenotypes in children with GNAO1 encephalopathy in China

Y Li, H Chen, L Li, X Cao, X Ding, L Chen… - Frontiers in …, 2023 - frontiersin.org
Background The GNAO1 gene encodes the α-subunit (Gαo) of the heterotrimeric guanine
nucleotide-binding protein (G protein). The aim of this study was to explore the clinical …

GNAO1 Mutations Affecting the N‐Terminal α‐Helix of Gαo Lead to Parkinsonism

GP Solis, YA Larasati, M Thiel, A Koval… - Movement …, 2024 - Wiley Online Library
Background Patients carrying pathogenic variants in GNAO1 present a phenotypic spectrum
ranging from severe early‐onset epileptic encephalopathy and developmental delay to mild …

Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation

A Lasa‐Aranzasti, YA Larasati… - Movement …, 2024 - Wiley Online Library
Background Defects in GNAO1, the gene encoding the major neuronal G‐protein Gαo, are
related to neurodevelopmental disorders, epilepsy, and movement disorders. Nevertheless …

Evolving understanding of CP phenotypes: the importance of dystonia

SA Lewis, B Aravamuthan, D Fehlings, MC Kruer - Pediatric research, 2024 - nature.com
Cerebral palsy (CP) is the core neurodevelopmental disorder affecting movement. Several
distinct movement disorders can occur in people with cerebral palsy. Dystonia is a …

[HTML][HTML] GNAO1-related disorder

L Briere, M Thiel, DA Sweetser, A Koy, E Axeen - 2023 - europepmc.org
GNAO1-related disorder encompasses a broad phenotypic continuum that includes
hyperkinetic movement disorders and/or epilepsy and is typically associated with …

Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies

J Domínguez Carral, C Reinhard… - Frontiers in …, 2024 - frontiersin.org
Background GNAO1-related disorders (GNAO1-RD) encompass a diverse spectrum of
neurodevelopmental and movement disorders arising from variants in the GNAO1 gene …

AAV9-Mediated Intrastriatal Delivery of GNAO1 Reduces Hyperlocomotion in Gnao1 Heterozygous R209H Mutant Mice

AJ Roy, JR Leipprandt, JR Patterson, AC Stoll… - The Journal of …, 2024 - Elsevier
Mutations in the GNAO1 gene, which encodes the abundant brain G-protein Gα o, result in
neurologic disorders characterized by developmental delay, epilepsy, and movement …