Cargando…

Visual Function in Children with GNAO1-Related Encephalopathy

Background: GNAO1-related encephalopathies include a broad spectrum of developmental disorders caused by de novo heterozygous mutations in the GNAO1 gene, encoding the G (o) subunit α of G-proteins. These conditions are characterized by epilepsy, movement disorders and developmental impairment, in c...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gambardella, Maria Luigia, Pede, Elisa, Orazi, Lorenzo, Leone, Simona, Quintiliani, Michela, Amorelli, Giulia Maria, Petrianni, Maria, Galanti, Marta, Amore, Filippo, Musto, Elisa, Perulli, Marco, Contaldo, Ilaria, Veredice, Chiara, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata, Ricci, Daniela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047968/ https://www.ncbi.nlm.nih.gov/pubmed/36980817 http://dx.doi.org/10.3390/genes14030544

Ejemplares similares

Cortical Visual Impairment in CDKL5 Deficiency Disorder
por: Quintiliani, Michela, et al.
Publicado: (2022)

Fighting autoinflammation in FIRES: The role of interleukins and early immunomodulation
por: Perulli, Marco, et al.
Publicado: (2022)

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
por: Sprovieri, Teresa, et al.
Publicado: (2019)

Phenotypes in children with GNAO1 encephalopathy in China
por: Li, Yanmei, et al.
Publicado: (2023)

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome
por: Danti, Federica Rachele, et al.
Publicado: (2017)

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset
por: De Rose, Domenico Umberto, et al.
Publicado: (2021)

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
por: Battaglia, Domenica I., et al.
Publicado: (2021)

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females
por: Marcé-Grau, Anna, et al.
Publicado: (2016)

Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation
por: Onesimo, Roberta, et al.
Publicado: (2021)

Humanization of Drosophila Gαo to Model GNAO1 Paediatric Encephalopathies
por: Savitsky, Mikhail, et al.
Publicado: (2020)

Pediatric GNAO1 encephalopathies: from molecular etiology of the disease to drug discovery
por: Katanaev, Vladimir L., et al.
Publicado: (2023)

Chiari 1 Malformation and Epilepsy in Children: A Missing Relationship
por: Massimi, Luca, et al.
Publicado: (2022)

Gαo (GNAO1) encephalopathies: plasma membrane vs. Golgi functions
por: Solis, Gonzalo P., et al.
Publicado: (2017)

Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis
por: Kim, Soo Yeon, et al.
Publicado: (2020)

Gain-of-function mutation in Gnao1: A murine model of epileptiform encephalopathy (EIEE17)?
por: Kehrl, Jason M., et al.
Publicado: (2014)

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8
por: Pasquetti, Domizia, et al.
Publicado: (2023)

Longitudinal Cognitive Assessment in Low-Risk Very Preterm Infants
por: Romeo, Domenico M., et al.
Publicado: (2022)

Highlighting the Dystonic Phenotype Related to GNAO1
por: Wirth, Thomas, et al.
Publicado: (2022)

Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease
por: Solis, Gonzalo P., et al.
Publicado: (2021)

Restoration of the GTPase activity and cellular interactions of Gα(o) mutants by Zn(2+) in GNAO1 encephalopathy models
por: Larasati, Yonika A., et al.
Publicado: (2022)

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R
por: Larasati, Yonika A., et al.
Publicado: (2023)

Phenotypes of GNAO1 Variants in a Chinese Cohort
por: Yang, Xiaoling, et al.
Publicado: (2021)

Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction
por: Wang, Dandan, et al.
Publicado: (2021)

The down-regulation of GNAO1 and its promoting role in hepatocellular carcinoma
por: Pei, Xiaoyu, et al.
Publicado: (2013)

GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey
por: JoJo Yang, Qian-Zhou, et al.
Publicado: (2022)

Cognitive Assessment in GNAO1 Neurodevelopmental Disorder Using an Eye Tracking System
por: Graziola, Federica, et al.
Publicado: (2021)

GNAO1 as a Novel Predictive Biomarker for Late Relapse in Hepatocellular Carcinoma
por: Du, Meiling, et al.
Publicado: (2021)

Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa
por: Vasconcellos, Luiz Felipe, et al.
Publicado: (2023)

Role of high-density EEG (hdEEG) in pre-surgical epilepsy evaluation in children: case report and review of the literature
por: Quintiliani, Michela, et al.
Publicado: (2021)

Specific Learning Disorders (SLD) and Behavior Impairment: Comorbidity or Specific Profile?
por: Chieffo, Daniela Pia Rosaria, et al.
Publicado: (2023)

Identification of a Novel Gnao-Mediated Alternate Olfactory Signaling Pathway in Murine OSNs
por: Scholz, Paul, et al.
Publicado: (2016)

Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature
por: Talvik, Inga, et al.
Publicado: (2015)

Deep brain stimulation in a young child with GNAO1 mutation – Feasible and helpful
por: Fung, Eva Lai-wah, et al.
Publicado: (2022)

Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes
por: Feng, Huijie, et al.
Publicado: (2019)

Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants
por: Al Masseri, Zainab, et al.
Publicado: (2022)

Treating GNAO1 mutation-related severe movement disorders with oxcarbazepine: a case report
por: Ling, Weihao, et al.
Publicado: (2022)

Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease
por: Di Rocco, Martina, et al.
Publicado: (2023)

GNAO1-related Neurodevelopmental Disorder Presenting as Acute Encephalitis Syndrome: A Phenotypic Expansion
por: Panda, Prateek Kumar, et al.
Publicado: (2023)

Neonatal Brain MRI and Motor Outcome at School Age in Children with Neonatal Encephalopathy: A Review of Personal Experience
por: Mercuri, Eugenio, et al.
Publicado: (2003)

Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation
por: Silachev, Denis, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_qegmb88bhkcp3inpr6adiro3ii