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.

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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
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article

A GNAI1 Pathogenic Variant Mimicking Cerebral Palsy: Expanding the Phenotypic Spectrum of GNAI1 ‐Associated Neurodevelopmental Disorder

Marco Antônio Veloso de Albuquerque, Fernando Kok
Clinical Case Reports
Genomics and Rare Diseases
article

A GNAI1 Pathogenic Variant Mimicking Cerebral Palsy: Expanding the Phenotypic Spectrum of GNAI1 ‐Associated Neurodevelopmental Disorder

Marco Antônio Veloso de Albuquerque, Fernando Kok
article en

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 pathogenic <i>GNAI1</i> variant, expanding the phenotypic spectrum of this rare condition.

Clinical Case ReportsVol. 13(11)
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
Openalex Percentile: Top 63%
Genomics and Rare Diseases
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