GNAO1 Mutation

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 about, 100 people worldwide have been identified as having a mutation on the GNAO1 gene. It is suspected that many patients initially diagnosed as having cerebral palsy or other neuromuscular and seizure disorders may actually have GNAO1. Currently, DNA testing is necessary to pinpoint this disorder.

Washington University in St. Louis holds a yearly clinic in an attempt to build diagnostic and treatment guidelines for this disorder.