title: Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.
abstract: GNAO1, located on chromosome 16q12.2, encodes for 1 of the heterotrimeric guanine binding proteins subunits (G proteins), specifically Gαo, which has been implicated as having an important role in brain function. GNAO1 mutations have been shown to impart oncogene properties as well as cause epileptic encephalopathy. The authors report 2 cases of brothers with a severe movement disorder and hypotonia without epilepsy who have been confirmed by whole exome sequencing to have a novel mutation in GNAO1. Their movement disorder improved significantly with deep brain stimulation.
authors.affiliation: Phoenix Children's Hospital, Phoenix, AZ, USA neilkulkarni5@gmail.com.
authors.forename: Neil
authors.initials: N
authors.lastname: Kulkarni
authors.affiliation: Ambry Genetics, Aliso Viejo, CA 92656.
authors.forename: Sha
authors.initials: S
authors.lastname: Tang
authors.affiliation: Phoenix Children's Hospital, Phoenix, AZ, USA.
authors.forename: Ratan
authors.initials: R
authors.lastname: Bhardwaj
authors.affiliation: Phoenix Children's Hospital, Phoenix, AZ, USA.
authors.forename: Saunder
authors.initials: S
authors.lastname: Bernes
authors.affiliation: Phoenix Children's Hospital, Phoenix, AZ, USA.
authors.forename: Theresa A
authors.initials: TA
authors.lastname: Grebe
mesh_terms: D002675:Child, Preschool; D046690:Deep Brain Stimulation; D019206:GTP-Binding Protein alpha Subunits, Gi-Go / Q000235:genetics*; D006801:Humans; D008297:Male; D009069:Movement Disorders / Q000235:genetics* / Q000628:therapy*; D009154:Mutation; D035781:Siblings
chemical_list: C584143:GNAO1 protein, human; D019206:GTP-Binding Protein alpha Subunits, Gi-Go
keywords: GNA01 mutations; deep brain stimulation; epileptic encephalopathy; movement disorders; whole exome sequencing