ArticleOrphanet journal of rare diseases2016
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.International journal of molecular sciences · 2021Pooled it
- Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.Annals of neurology · 2026Article
- Case Report: Early infantile drug-resistant epilepsy and gastrointestinal dysmotility associated with aFrontiers in pediatrics · 2026Article
- Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights.Molecular autism · 2025Article
- Scn2a-linked myelination deficits and synaptic plasticity alterations drive auditory processing disorders in an ASD mouse model.Nature communications · 2025Article
- Trajectory maps: molecular dynamics visualization and analysis.NAR genomics and bioinformatics · 2024Article
- Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.Annals of neurology · 2023Observational
- Article
- GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.Epilepsy & behavior reports · 2023Article
- Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes.Human mutation · 2023Review
- Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction.Human molecular genetics · 2022Article
- Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation.Acta neuropathologica communications · 2022Article
- Case Report: A NovelFrontiers in neurology · 2021Article
- Phenotypes ofFrontiers in neurology · 2021Article
- Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.Epilepsia · 2019Article
- Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes.PloS one · 2019Article
- Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.Journal of inherited metabolic disease · 2018Review
- Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Movement disorder inNeurology · 2017Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundDe novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, movement disorder (early infantile epileptic encephalopathy-17).
methodsWe report a further case of this association in a 20 month-old Spanish girl with neonatal-onset refractory seizures, progressive microcephaly, oral-lingual dyskinesia and nearly absent psychomotor development. We performed whole-exome sequencing, a computational structural analysis of the novel gene variant identified and reviewed the previously reported cases.
resultsTrio whole-exome-sequencing uncovered a de novo p.Leu199Pro GNAO1 mutation. Computational structural analysis indicates this novel variant adversely affects the stability of the G-protein heterotrimeric complex as a whole. Of note, our patient showed a sustained seizure reduction while on a ketogenic diet.
conclusionsWith this observation, a total of twelve patients with GNAO1 encephalopathy have been reported. Oral-lingual dyskinesia and responsiveness of seizures to ketogenic diet are novel features. The distorted sex ratio (12/12 females) of the condition remains unexplained; a differential gender effect of the disruption of G-protein- mediated signal transduction on the developing brain can be hypothesized.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.