G protein-coupled potassium channels implicated in mouse and cellular models of GNB1 Encephalopathy

Abstract excerpt

<h4>SUMMARY</h4> De novo mutations in GNB1 , encoding the Gβ1 subunit of G proteins, cause a neurodevelopmental disorder with global developmental delay and epilepsy. Mice carrying a pathogenic mutation, K78R, recapitulate aspects of the disorder, including developmental delay and frequent spike-wave discharges (SWD). Cultured mutant cortical neurons display aberrant bursting activity on multi-electrode arrays....

Topics

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• Brain
• Disease Models, Animal
• Epilepsy
• Gene Knock-In Techniques
• GTP-Binding Protein alpha Subunits, Gi-Go
• Mice
• Mice, Inbred C57BL
• Mutation

Identifiers and source

Literature Corpus work

c5d64294-160c-5b3a-8343-10f41bd86e49

DOI

10.1101/697235