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Article

Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Jun 2014

Kehrl Jason M, Sahaya Kinshuk, Dalton Hans M, Charbeneau Raelene A, Kohut Kevin T, Gilbert Kristen, Pelz Madeline C, Parent Jack, Neubig Richard R

Abstract excerpt

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....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Gene Knock-In Techniques

Share to GTP-Binding Protein alpha Subunits, Gi-Go

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Source

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Identifiers

PMID: 24700286
DOI: 10.1007/s00335-014-9509-z
PMCID: PMC4042023

Genes

GNAO1

Provenance

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