Neurodevelopmental and Movement Disorder Due to a Mutation in the GNAO1 Gene: A Case Report
Early recognition of neurodevelopmental delay and abnormal movements are determinants of an etiological approach to a neurological disorder. The use of whole exome sequencing should be promoted if a structural and metabolic diagnosis has been ruled out as the identification of a specific condition affects its management and prognosis, and guides genetic counseling.
Authors
- Isabella Lince‐Rivera (ORCID: https://orcid.org/0000-0002-1416-3201)
- María Alejandra González-Solano (ORCID: https://orcid.org/0000-0003-3324-6755)
- Jorge A. Rojas (ORCID: https://orcid.org/0000-0002-9784-188X)
- Jorge Luis Ramón‐Gómez (ORCID: https://orcid.org/0000-0002-2697-2380)
- Sandra Milena Hernández Yeneris (ORCID: https://orcid.org/0000-0001-7878-1175)
Institutions
- Pontificia Universidad Javeriana (CO)
- Military University Nueva Granada (CO)
- Instituto Neurológico de Colombia (CO)
- Clínica Santa María (CO)
Publication Details
- Journal
- Revista de Neurología
- Published
- 2025-09-22
- DOI
- https://doi.org/10.31083/rn46799
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00