Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
paper
Cited
Public
Unavailable
- Authors
- Saitsu, Hirotomo; Fukai, Ryoko; Ben-Zeev, Bruria; Sakai, Yasunari; Mimaki, Masakazu; Okamoto, Nobuhiko; Suzuki, Yasuhiro; Monden, Yukifumi; Saito, Hiroshi; Tziperman, Barak; Torio, Michiko; Akamine, Satoshi; Takahashi, Nagahisa; Osaka, Hitoshi; Yamagata, Takanori; Nakamura, Kazuyuki; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Shiina, Masaaki; Ogata, Kazuhiro; Matsumoto, Naomichi
- Year
- 2016
- Journal
- European journal of human genetics : EJHG
- PMID
- 25966631
- DOI
- 10.1038/ejhg.2015.92
- PMCID
- PMC4795232
De novo GNAO1 variants have been found in four patients including three patients with Ohtahara syndrome and one patient with childhood epilepsy. In addition, two patients showed involuntary movements, suggesting that GNAO1 variants can cause various neurological phenotypes. Here we report an additional four patients with de novo missense GNAO1 variants, one of which was identical to that of the previously reported. All the three novel variants were predicted to impair GΞ±o function by structural evaluation. Two patients showed early-onset epileptic encephalopathy, presenting with migrating or multifocal partial seizures in their clinical course, but the remaining two patients showed no or a few seizures. All the four patients showed severe intellectual disability, motor developmental delay, and involuntary movements. Progressive cerebral atrophy and thin corpus callosum were common features in brain images. Our study demonstrated that GNAO1 variants can cause involuntary movements and severe developmental delay with/without seizures, including various types of early-onset epileptic encephalopathy.
No figures extracted from this document.
No chunks β full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
No citations found.
In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Genome-wide association study of stimulant dependence. | 2021 | 34226506 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Deciphering a mechanistic basis for the pathological effect of the GNAO1 E246K variant in neurodevelopmental disorder. | Sadiya I et al. | β | 2026 | β |
| Urine-Derived iPSC Neurospheres Uncover Proteomic Correlates of Clinical Severity in Dravet Syndrome. | Martins M et al. | β | 2026 | β |
| A possible genetic predisposition to suspected hypoxic-ischaemic encephalopathy. | Holborn MA et al. | β | 2025 | β |
| Decoding GNAO1 mutations using <i>Caenorhabditis elegans</i> model system: past approaches and future prospectives. | Yadav S et al. | β | 2025 | β |
| Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies. | Medyanik AD et al. | β | 2025 | β |
| GNAO1 overexpression promotes neural differentiation of glioma stem-like cells and reduces tumorigenicity through TRIM21/CREB/HES1 axis. | Sun B et al. | β | 2025 | β |
| Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum. | Mei D et al. | β | 2025 | β |
| Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder. | Shomer I et al. | β | 2025 | β |
| Update on Genetic Chorea. | PΓ©rez-PΓ©rez J et al. | β | 2025 | β |
| A neurodevelopmental disorder mutation locks G proteins in the transitory pre-activated state. | Knight KM et al. | β | 2024 | β |
| Associations of Heavy Metals with Cognitive Function: An Epigenome-Wide View of DNA Methylation and Mediation Analysis. | Wei Y et al. | β | 2024 | β |
| CB1R activates the epilepsy-associated protein Go to regulate neurotransmitter release and synaptic plasticity in the cerebellum. | Choi JM et al. | β | 2024 | β |
| Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation. | Lasa-Aranzasti A et al. | β | 2024 | β |
| Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties. | Benedetti MC et al. | β | 2024 | β |
| Deep Brain Stimulation for GNAO1-Associated Dystonia: A Systematic Review and Meta-Analysis. | Decraene B et al. | β | 2024 | β |
| Dyskinetic crisis in <i>GNAO1</i>-related disorders: clinical perspectives and management strategies. | DomΓnguez Carral J et al. | β | 2024 | β |
| Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene. | Plachy L et al. | β | 2024 | β |
| Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment. | Spoto G et al. | β | 2024 | β |
| Gnao1 is a molecular switch that regulates the Rho signaling pathway in differentiating neurons. | Taira R et al. | β | 2024 | β |
| CRISPR/Cas9-generated mouse model with humanizing single-base substitution in the <i>Gnao1</i> for safety studies of RNA therapeutics. | Polikarpova AV et al. | β | 2023 | β |
| [Encephalopathy GNAO1]. | Bobylova MY et al. | β | 2023 | β |
| GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments. | Novelli M et al. | β | 2023 | β |
| GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey. | JoJo Yang QZ et al. | β | 2023 | β |
| Phenotypic Assessment of Pathogenic Variants in <i>GNAO1</i> and Response to Caffeine in <i>C. elegans</i> Models of the Disease. | Di Rocco M et al. | β | 2023 | β |
| Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes. | SΓ‘ez GonzΓ‘lez M et al. | β | 2023 | β |
| Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function. | DomΓnguez-Carral J et al. | β | 2023 | β |
| Visual Function in Children with GNAO1-Related Encephalopathy. | Gambardella ML et al. | β | 2023 | β |
| Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia. | Di Rocco M et al. | β | 2022 | β |
| Genetic modeling of GNAO1 disorder delineates mechanisms of GΞ±o dysfunction. | Wang D et al. | β | 2022 | β |
| Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants. | Al Masseri Z et al. | β | 2022 | β |
| Members of the KCTD family are major regulators of cAMP signaling. | Muntean BS et al. | β | 2022 | β |
| Mice with monoallelic <i>GNAO1</i> loss exhibit reduced inhibitory synaptic input to cerebellar Purkinje cells. | Feng H et al. | β | 2022 | β |
| Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling. | Galosi S et al. | β | 2022 | β |
| Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation. | Silachev D et al. | β | 2022 | β |
| Restoration of the GTPase activity and cellular interactions of GΞ±<sub>o</sub> mutants by Zn<sup>2+</sup> in <i>GNAO1</i> encephalopathy models. | Larasati YA et al. | β | 2022 | β |
| The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders. | PΓ©rez-DueΓ±as B et al. | β | 2022 | β |
| Treating <i>GNAO1</i> mutation-related severe movement disorders with oxcarbazepine: a case report. | Ling W et al. | β | 2022 | β |
| Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review. | Arisaka A et al. | β | 2021 | β |
| Current challenges in the pathophysiology, diagnosis, and treatment of paroxysmal movement disorders. | Delorme C et al. | β | 2021 | β |
| Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review. | Spagnoli C et al. | β | 2021 | β |
| Genome-wide association study of stimulant dependence. | Cox J et al. | β | 2021 | β |
| GNAO1 mutation-related severe involuntary movements treated with gabapentin. | Akasaka M et al. | β | 2021 | β |
| Identification of functional cooperative mutations of GNAO1 in human acute lymphoblastic leukemia. | Song L et al. | β | 2021 | β |
| Phenotypes of <i>GNAO1</i> Variants in a Chinese Cohort. | Yang X et al. | β | 2021 | β |
| Results of the First GNAO1-Related Neurodevelopmental Disorders Caregiver Survey. | Axeen E et al. | β | 2021 | β |
| Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern. | Lee S et al. | β | 2020 | β |
| GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons. | Akamine S et al. | β | 2020 | β |
| Increased diagnostic yield in complex dystonia through exome sequencing. | Wirth T et al. | β | 2020 | β |
| Mice with <i>GNAO1</i> R209H Movement Disorder Variant Display Hyperlocomotion Alleviated by Risperidone. | Larrivee CL et al. | β | 2020 | β |
| Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis. | Kim SY et al. | β | 2020 | β |
| The expanding spectrum of movement disorders in genetic epilepsies. | Papandreou A et al. | β | 2020 | β |
| Two cases of 16q12.1q21 deletions and refinement of the critical region. | Apuzzo D et al. | β | 2020 | β |
| A meta-analysis of two high-risk prospective cohort studies reveals autism-specific transcriptional changes to chromatin, autoimmune, and environmental response genes in umbilical cord blood. | Mordaunt CE et al. | β | 2019 | β |
| Chorea. | Termsarasab P | β | 2019 | β |
| Genetic mimics of cerebral palsy. | Pearson TS et al. | β | 2019 | β |
| GNAO1 mutation presenting as dyskinetic cerebral palsy. | Malaquias MJ et al. | β | 2019 | β |
| Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes. | Feng H et al. | β | 2019 | β |
| Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews. | Weisz-Hubshman M et al. | β | 2019 | β |
| Paroxysmal movement disorders - practical update on diagnosis and management. | De Gusmao CM et al. | β | 2019 | β |
| PDE10A mutations help to unwrap the neurobiology of hyperkinetic disorders. | Whiteley EL et al. | β | 2019 | β |
| Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review. | Schirinzi T et al. | β | 2019 | β |
| Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. | Kelly M et al. | β | 2019 | β |
| A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. | Akamine S et al. | β | 2018 | β |
| A mechanistic review on GNAO1-associated movement disorder. | Feng H et al. | β | 2018 | β |
| A meta-analysis of two high-risk prospective cohort studies reveals autism-specific transcriptional changes to chromatin, autoimmune, and environmental response genes in umbilical cord blood | Mordaunt CE et al. | β | 2018 | β |
| Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia. | Koy A et al. | β | 2018 | β |
| Genomic analysis identifies masqueraders of full-term cerebral palsy. | Takezawa Y et al. | β | 2018 | β |
| GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS. | Waak M et al. | β | 2018 | β |
| Identify Cross Talk Between Circadian Rhythm and Coronary Heart Disease by Multiple Correlation Analysis. | Yan X et al. | β | 2018 | β |
| Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results. | Gerald B et al. | β | 2018 | β |
| Placental CpG methylation of infants born extremely preterm predicts cognitive impairment later in life. | Tilley SK et al. | β | 2018 | β |
| Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms. | Abela L et al. | β | 2018 | β |
| Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing. | Bruun TUJ et al. | β | 2018 | β |
| [Recurrent convulsion and pulmonary infection complicated by psychomotor retardation in an infant]. | Xiong J et al. | β | 2018 | β |
| A case of severe movement disorder with GNAO1 mutation responsive to topiramate. | Sakamoto S et al. | β | 2017 | β |
| Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment. | Symonds JD et al. | β | 2017 | β |
| Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. | Parrini E et al. | β | 2017 | β |
| Emerging Monogenic Complex Hyperkinetic Disorders. | Carecchio M et al. | β | 2017 | β |
| GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype. | Arya R et al. | β | 2017 | β |
| Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. | Evers C et al. | β | 2017 | β |
| <i>GNAO1</i> encephalopathy: Broadening the phenotype and evaluating treatment and outcome. | Danti FR et al. | β | 2017 | β |
| Movement disorder in <i>GNAO1</i> encephalopathy associated with gain-of-function mutations. | Feng H et al. | β | 2017 | β |
| Obsessive-compulsive disorder, which genes? Which functions? Which pathways? An integrated holistic view regarding OCD and its complex genetic etiology. | Bozorgmehr A et al. | β | 2017 | β |
| Clinical Course of Six Children With GNAO1 Mutations Causing aΒ Severe and Distinctive Movement Disorder. | Ananth AL et al. | β | 2016 | β |
| Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes. | Patel J et al. | β | 2016 | β |
| Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis. | Yilmaz S et al. | β | 2016 | β |
| Global inference of disease-causing single nucleotide variants from exome sequencing data. | Wu M et al. | β | 2016 | β |
| GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females. | MarcΓ©-Grau A et al. | β | 2016 | β |
| <i>GNAO1</i>-Associated Movement Disorder. | Dhamija R et al. | β | 2016 | β |
| PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant. | Thiffault I et al. | β | 2016 | β |
| Recent advances in genetics of chorea. | Mencacci NE et al. | β | 2016 | β |
| Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder. | Menke LA et al. | β | 2016 | β |