GNAO1 (G Protein Subunit Alpha O1) is a Protein Coding gene.  Some of the individuals with mutations on the GNAO1 gene suffer from seizures associated with early infantile epileptic encephalopathy-17 others have mild to severe movement disorders all seem to have some form of developmental delay. To date, 50 people worldwide have been identified as having a mutation on the GNAO1 gene.  For stories about individual patients please check out our blog.

Below are links to a few of the relevant medical journals on GNAO1.  More can be found at the US National Library of Medicine.

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

A case of severe movement disorder with GNAO1 mutation responsive to topiramate.

Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.

Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis.

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.

Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.