Journal of Child Neurology · 2015 · 69 citations · 7 references
Life SciencesGeneticsNeurologyMolecular NeuroscienceMovement DisordersNeurogeneticsGenetic DisordersMendelian Neurological DisordersMolecular NeurogeneticsMovement Disorder GeneticsNeurodevelopmental GeneticsNeurogenetic DisordersGenetic Causes Of EpilepsyGenetic Epileptic EncephalopathyHeterotrimeric G Protein SignalingNeurodevelopmental Disorder MutationsPediatric Movement Disorder GeneticsWhole Exome Sequencing Studies
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.
7