A <scp>GNAI1</scp> Pathogenic Variant Mimicking Cerebral Palsy: Expanding the Phenotypic Spectrum of <scp>GNAI1</scp> ‐Associated Neurodevelopmental Disorder
Novel genes are increasingly associated with neurodevelopmental disorders featuring developmental delay, epilepsy, and behavioral abnormalities. We report a child with profound motor and speech delay, hypotonia, dystonia, and spasticity mimicking cerebral palsy. Molecular testing revealed a pathogenic <i>GNAI1</i> variant, expanding the phenotypic spectrum of this rare condition.
Authors
- Marco Antônio Veloso de Albuquerque (ORCID: https://orcid.org/0000-0002-7764-0597)
- Fernando Kok (ORCID: https://orcid.org/0000-0002-7577-9122)
Institutions
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-11-01
- DOI
- https://doi.org/10.1002/ccr3.71442
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00