Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features.

Brain & development - 1 Nov 2018

Okumura Akihisa, Maruyama Koichi, Shibata Mami, Kurahashi Hirokazu, Ishii Atsushi, Numoto Shingo, Hirose Shinichi, Kawai Tomoko, Iso Manami, Kataoka Shinsuke, Okuno Yusuke, Muramatsu Hideki, Kojima Seiji

Abstract excerpt

We report on a 4-year-old girl with a de novo GNAO1 mutation who had neurological findings, including decreased spontaneous movements, hypotonia, and dystonic features. She was referred to our hospital because of delayed psychomotor development. She showed hypotonia and decreased spontaneous movements. Voluntary movements of the limbs were more frequent in the lower extremities than in the upper extremities....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonia

Share to GTP-Binding Protein alpha Subunits, Gi-Go

Share to Movement Disorders

Share to Muscle Hypotonia

Share to Mutation

Source

Identifiers

PMID: 29935962
DOI: 10.1016/j.braindev.2018.06.005

Genes

GNAO1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features.PMID 29935962Read ↗

Spectrum of Movement Disorders in GNAO1 Encephalopathy: In-Depth Phenotyping and Case-by-Case AnalysisSemantic proximity Read ↗

Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.Semantic proximity Read ↗

GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism.Semantic proximity Read ↗

Highlighting the Dystonic Phenotype Related to GNAO1.Semantic proximity Read ↗

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.Semantic proximity Read ↗

Genotype–phenotype correlation and treatment effects in young patients withGNAO1-associated disordersSemantic proximity Read ↗

GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype.Semantic proximity Read ↗

GNAO1 mutation-related severe involuntary movements treated with gabapentin.Semantic proximity Read ↗

[Neurodevelopmental and Movement Disorder Due to a Mutation in the GNAO1 Gene: A Case Report].Semantic proximity Read ↗

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.Semantic proximity Read ↗

Mice with GNAO1 R209H Movement Disorder Variant Display Hyperlocomotion Alleviated by Risperidone.Semantic proximity Read ↗

Griscelli syndrome type 1: a novel pathogenic variant, and review of literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.