A GNAI1 Pathogenic Variant Mimicking Cerebral Palsy: Expanding the Phenotypic Spectrum of GNAI1‐Associated Neurodevelopmental Disorder
ABSTRACT 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...
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| Principais autores: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Wiley
2025-11-01
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| Serier: | Clinical Case Reports |
| Fag: | |
| Online adgang: | https://doi.org/10.1002/ccr3.71442 |
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