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Article

Visual Function in Children with GNAO1-Related Encephalopathy.

Genes - 22 Feb 2023

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

Abstract excerpt

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 combination or as isolated features. OBJECTIVE: This study aimed at describing the profile of neurovisual competences...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36980817
DOI: 10.3390/genes14030544
PMCID: PMC10047968

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