Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor

De novo mutations in GNB1, encoding the Gβ(1) 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 aspects of the disorder, including developmental dela...

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Detalles Bibliográficos
Autores principales: Colombo, Sophie, Reddy, Haritha P., Petri, Sabrina, Williams, Damian J., Shalomov, Boris, Dhindsa, Ryan S., Gelfman, Sahar, Krizay, Daniel, Bera, Amal K., Yang, Mu, Peng, Yueqing, Makinson, Christopher D., Boland, Michael J., Frankel, Wayne N., Goldstein, David B., Dascal, Nathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cellular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10232839/
https://www.ncbi.nlm.nih.gov/pubmed/37275776
http://dx.doi.org/10.3389/fncel.2023.1175895

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