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...
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: | |
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)