Article
Humanization of <i>Drosophila</i> Gαo to model <i>GNAO1</i> paediatric encephalopathies
2020-08-14
Abstract excerpt
Several hundred genes have been identified to contribute to epilepsy – the disease affecting 65 million people worldwide. One of these genes is GNAO1 encoding Gαo, the major neuronal α-subunit of heterotrimeric G proteins. An avalanche of dominant de novo mutations in GNAO1 have been recently described in paediatric epileptic patients, suffering in addition to epilepsy from motor dysfunction and developmental d...
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Identifiers and source
- Literature Corpus work
- abea65f0-2c27-5f55-8492-c237e9bb3b32
- DOI
- 10.1101/2020.08.14.251173
