GNAO1 (G Protein Subunit Alpha O1) is a protein coding gene. Most patients with a GNAO1 neurodevelopmental disorder are diagnosed as infants or young children. The GNAO1 diagnosis is made through genetic testing. Many of the patients begin experiencing seizures, abnormal movements and developmental delays in their infancy.

2023年11月9日 · GNAO1-related disorder encompasses a broad phenotypic continuum that includes hyperkinetic movement disorders and/or epilepsy and is typically associated with developmental delay and intellectual disability.

2024年12月25日 · GNAO1 (G Protein Subunit Alpha O1) is a Protein Coding gene. Diseases associated with GNAO1 include Neurodevelopmental Disorder With Involuntary Movements and Developmental And Epileptic Encephalopathy 17. Among its related pathways are Development Angiotensin activation of ERK and Activation of cAMP-Dependent PKA.

Guanine nucleotide-binding protein G(o) subunit alpha is a protein that in humans is encoded by the GNAO1 gene. [5] [6] [7] Mutations in this gene have been shown to cause epileptic encephalopathy. [8]

2024年7月24日 · GNAO1 encodes G protein subunit alpha O1 (Gαo). Pathogenic variations in GNAO1 cause developmental delay, intractable seizures, and progressive involuntary movements from early infancy.

350+ people are known to be impacted by a GNAO1 related neurodevelopmental disorder. The Bow Foundation supports GNAO1 families by raising awareness, enhancing research, and fostering community. To date about 300 people worldwide have been identified as having a mutation on the GNAO1 gene.

GNAO1-related neurodevelopmental disorder is a heterogeneous condition characterized by hypotonia, developmental delay, epilepsy, and movement disorder. This study aims to better understand the spectrum of epilepsy associated with GNAO1 variants and experience with anti-seizure medications, and to review published epilepsy phenotypes in GNAO1 ...

GNAO1 is a gene which provides instructions to make the Gαo protein which is found in the central nervous system. Pathogenic variants (also known as 'mutations') in GNAO1 can affect patients differently, depending on the location of the mutation in the gene, causing a spectrum of mild to severe epilepsy, movement disorder, or a combination of both.

The GNAO1 gene encodes an alpha subunit of the heterotrimeric guanine nucleotide-binding proteins (G proteins), a large family of signal-transducing molecules. G proteins are composed of alpha, beta, and gamma subunits.

GNAO1 is a disease-causing gene for the autosomal dominant form of early infantile epileptic encephalopathy. The novel pathogenic variant identified in should contribute to our understanding of the expanding spectrum of infantile-onset epilepsy.