Cargando…

Treating GNAO1 mutation-related severe movement disorders with oxcarbazepine: a case report

BACKGROUND: GNAO1 variants have been found to be associated with epileptic encephalopathies, developmental delays (DDs), and movement disorders (MDs). Therapies for patients with GNAO1 variants vary. However, treatments for GNAO1-related diseases are still in their infancy. Previous reports suggest...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ling, Weihao, Huang, Danping, Yang, Fan, Yang, Zuozhen, Liu, Min, Zhu, Qiujiao, Huang, Jing, Zhou, Rui, Chen, Xuqin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	AME Publishing Company 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561508/ https://www.ncbi.nlm.nih.gov/pubmed/36247896 http://dx.doi.org/10.21037/tp-22-297

Ejemplares similares

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

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)

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

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

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

Oxcarbazepine and Hyponatremia
por: Čiauškaitė, Julija, et al.
Publicado: (2022)

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

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

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

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)

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

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

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)

Evaluation of hematologic profile may be needed for patients treated with oxcarbazepine
por: Jung, Gu Hyun, et al.
Publicado: (2019)

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

Uncontrolled headache induced by oxcarbazepine
por: Piovesan, Elcio Juliato, et al.
Publicado: (2007)

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

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

Oxcarbazepine May Be Useful in Sydenham Chorea
por: Işıkay, Sedat, et al.
Publicado: (2021)

Oxcarbazepine – induced hyponatremia in bipolar disorder: A report of two cases
por: Kumar, Pattath Narayanan Suresh, et al.
Publicado: (2016)

Oxcarbazepine for Behavioral Disorders after Brain Injury: Factors Influencing Efficacy
por: Pozzi, Marco, et al.
Publicado: (2021)

Crystal Structure and Twisted Aggregates of Oxcarbazepine Form III
por: Polyzois, Hector, et al.
Publicado: (2022)

Comparison of Cognitive Effects of Lamotrigine and Oxcarbazepine in Epilepsy Patients
por: Seo, Jong-Geun, et al.
Publicado: (2007)

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)

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

Cutaneous adverse drug reactions induced by Oxcarbazepine
por: Hsiao, Yi-Hsin, et al.
Publicado: (2014)

606 Case Report: Hypogammaglobulinemia Induced by Oxcarbazepine
por: Marinovic, Maria Angelica, et al.
Publicado: (2012)

Desensitization to Oxcarbazepine: Long-Term Efficacy and Tolerability
por: Lee, Jiwon, et al.
Publicado: (2017)

Oxcarbazepine Therapy for Complete Central Diabetes Insipidus
por: Abdallah, Basmah, et al.
Publicado: (2018)

Oxcarbazepine-induced hyponatremia: A case report
por: Pinto, M. Barbosa, et al.
Publicado: (2021)

Hyponatremia from oxcarbazepine: A case report
por: Coucheiro Limeres, P., et al.
Publicado: (2022)

Randomized trial of betahistine mesilate tablets as augmentation for oxcarbazepine and carbamazepine in treating vestibular paroxysmia
por: Xue, Hui, et al.
Publicado: (2018)

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)

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

Cannot write session to /tmp/vufind_sessions/sess_m0vpeufr9j8gjsg4qqqptpanb8