Ontology highlight
ABSTRACT:
SUBMITTER: Kehrl JM
PROVIDER: S-EPMC4042023 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Kehrl Jason M JM Sahaya Kinshuk K Dalton Hans M HM Charbeneau Raelene A RA Kohut Kevin T KT Gilbert Kristen K Pelz Madeline C MC Parent Jack J Neubig Richard R RR
Mammalian genome : official journal of the International Mammalian Genome Society 20140405 5-6
G protein-coupled receptors strongly modulate neuronal excitability but there has been little evidence for G protein mechanisms in genetic epilepsies. Recently, four patients with epileptic encephalopathy (EIEE17) were found to have mutations in GNAO1, the most abundant G protein in brain, but the mechanism of this effect is not known. The GNAO1 gene product, Gαo, negatively regulates neurotransmitter release. Here, we report a dominant murine model of Gnao1-related seizures and sudden death. We ...[more]