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Article

[Neurodevelopmental and Movement Disorder Due to a Mutation in the GNAO1 Gene: A Case Report].

Revista de neurologia - 22 Sept 2025

Hernández Yeneris Sandra Milena, González-Solano María Alejandra, Lince-Rivera Isabella, Rojas-Martínez Jorge A, Ramón-Gómez Jorge L

Abstract excerpt

INTRODUCTION: We present the case of a patient with a de novo heterozygous probably pathogenic variant c.545C>T (p.Thr182Ile) in the GNAO1 gene that is probably pathogenic in relation to a neurodevelopmental disorder and movement disorder. CASE REPORT: A female patient who started at 3 months with severe neurodevelopmental delay, and subsequently myoclonus, orofacial dyskinesia, and choreoathetosis, without...

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Identifiers

PMID: 41074486
DOI: 10.31083/RN46799
PMCID: PMC12516824

Genes

GNAO1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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