Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor
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DOI: 10.3389/fncel.2023.1175895
Abstract: De novo mutations in GNB1, encoding the Gβ1 subunit of G proteins, cause a neurodevelopmental disorder with global developmental delay and epilepsy, GNB1 encephalopathy. Here, we show that mice carrying a pathogenic mutation, K78R, recapitulate… read more here.
Keywords: mouse model; potassium girk; girk; gnb1 encephalopathy ... See more keywords