Associated Papers
A GNAI1 Pathogenic Variant Mimicking Cerebral Palsy: Expanding the Phenotypic Spectrum of GNAI1-Associated Neurodevelopmental Disorder.
de Albuquerque MAV et al.
Clinical Case Reports, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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