Cargando…

Cognitive Assessment in GNAO1 Neurodevelopmental Disorder Using an Eye Tracking System

GNAO1 gene mutations are associated with a neurodevelopmental disorder characterized by developmental delay, epilepsy, and movement disorder. Eye tracking and eye movement analysis are an intriguing method to assess cognitive and language function and, to the best of our knowledge, it has never been...

Descripción completa

Detalles Bibliográficos
Autores principales:	Graziola, Federica, Garone, Giacomo, Grasso, Melissa, Capuano, Alessandro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8397136/ https://www.ncbi.nlm.nih.gov/pubmed/34441836 http://dx.doi.org/10.3390/jcm10163541

Ejemplares similares

Acute Movement Disorders in Childhood
por: Garone, Giacomo, et al.
Publicado: (2021)

Alternating Hemiplegia of Childhood: Understanding the Genotype–Phenotype Relationship of ATP1A3 Variations
por: Capuano, Alessandro, et al.
Publicado: (2020)

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

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

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias
por: Garone, Giacomo, et al.
Publicado: (2020)

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

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

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study
por: Graziola, Federica, et al.
Publicado: (2019)

“Spazio Huntington”: Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats
por: Graziola, Federica, et al.
Publicado: (2022)

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

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)

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

Visual Function in Children with GNAO1-Related Encephalopathy
por: Gambardella, Maria Luigia, et al.
Publicado: (2023)

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

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

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

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)

Visual preference for social stimuli in individuals with autism or neurodevelopmental disorders: an eye-tracking study
por: Crawford, Hayley, et al.
Publicado: (2016)

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

Retraction: Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes
por: Feng, Huijie, et al.
Publicado: (2021)

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)

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

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)

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

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia
por: Di Rocco, Martina, et al.
Publicado: (2021)

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

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)

Impaired Motor Timing in Tourette Syndrome: Results From a Case–Control Study in Children
por: Graziola, Federica, et al.
Publicado: (2020)

Social Cognition in Neurodevelopmental Disorders and Epilepsy
por: Pastorino, Grazia Maria Giovanna, et al.
Publicado: (2021)

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

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

DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1
por: Chaib, Hind, et al.
Publicado: (2022)

Assessment of cognitive biases in Augmented Reality: Beyond eye tracking
por: Słowiński, Piotr, et al.
Publicado: (2022)

Adult reversal of cognitive phenotypes in neurodevelopmental disorders
por: Silva, Alcino J., et al.
Publicado: (2009)

Cognitive Food Processing in Binge-Eating Disorder: An Eye-Tracking Study
por: Sperling, Ingmar, et al.
Publicado: (2017)

An assessment of sex bias in neurodevelopmental disorders
por: Polyak, Andrew, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_58o82n2npgltgm09utduh520lk