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

[Encephalopathy GNAO1].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2023

Bobylova M Yu, Volkov I V, Gumennik E V, Rachmanina O A, Abramov M O, Volkova O K, Bayborina T S, Petrukhin A S

Abstract excerpt

OBJECTIVE: To study the clinical picture of all patients with GNAO1 encephalopathy detected in the Russian Federation. This publication is a multicenter study combining data from epileptological centers in Moscow, Novosibirsk, St. Petersburg, Nizhny Novgorod, Tyumen. MATERIAL AND METHODS: Nine patients were included, aged 2 to 19 years, with 4 mutations. Male to female sex ratio = 5:4. RESULTS: 8 patients (5 with...

Read the complete abstract on PubMed

Topics

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

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperkinesis

Share to Seizures

Share to Brain Diseases

Share to Child, Preschool

Share to Dyskinesias

Share to Epilepsy

Source

Identifiers

PMID: 36719128
DOI: 10.17116/jnevro2023123011122

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

[Encephalopathy GNAO1].PMID 36719128Read ↗

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

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.Semantic proximity Read ↗

Highlighting the Dystonic Phenotype Related to GNAO1.Semantic 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 ↗

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

Mouse Models Characterize GNAO1 Encephalopathy as a Neurodevelopmental Disorder Leading to Motor Anomalies: from a Severe G203R to a Milder C215Y MutationSemantic proximity Read ↗

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

A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies.Semantic proximity Read ↗

Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation.Semantic proximity Read ↗

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.Semantic proximity Read ↗

[Dynamin-1-related infantile spasms: a case report and review of literature].Semantic proximity Read ↗

[Recurrent convulsion and pulmonary infection complicated by psychomotor retardation in an infant].Semantic proximity Read ↗

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