G protein-coupled potassium channels implicated in mouse and cellular models of GNB1 Encephalopathy
Sophie Colombo, Sabrina Petri, Boris Shalomov, Haritha P. Reddy, Galit Tabak, Ryan S. Dhindsa, Sahar Gelfman, Sasa Teng, Daniel K. Krizay, Elizabeth E. Rafikian, Amal Kanti Bera, Mu Yang, Michael J. Boland, Yueqing Peng, Wayne N. Frankel, , David B. Goldstein
This study identifies GNB1 mutations causing neurodevelopmental disorder and shows ethosuximide effectively treats symptoms in mouse and cellular models.
bioRxiv · Jul 9, 2019 · PreprintNeuroscience