Articles with "gnao1 related" as a keyword



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Results of the First GNAO1-Related Neurodevelopmental Disorders Caregiver Survey.

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Published in 2021 at "Pediatric neurology"

DOI: 10.1016/j.pediatrneurol.2021.05.005

Abstract: BACKGROUND We sought to expand our knowledge of the clinical spectrum of GNAO1-related neurodevelopmental disorders through a caregiver survey reviewing medical and developmental history and development of epilepsy and movement disorders. METHODS An online survey… read more here.

Keywords: movement; survey; gnao1 related; disorders caregiver ... See more keywords
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Visual Function in Children with GNAO1-Related Encephalopathy

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Published in 2023 at "Genes"

DOI: 10.3390/genes14030544

Abstract: 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… read more here.

Keywords: function children; function; gnao1 related; children gnao1 ... See more keywords