Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy
Timothy J Abreo, Emma C. Thompson, Anuraag Madabushi, Heun Soh, Nissi Varghese, Carlos G. Vanoye, Kristen Springer, Kristen Springer, Jim Johnson, Scotty Sims, Zhigang Ji, Ana G. Chavez, Miranda J. Jankovic, Bereket Habte, Aamir R. Zuberi, , Edward C. Cooper
The paper investigates the molecular and cellular mechanisms of KCNQ2 encephalopathy through structural analysis, functional assays, and an animal model, revealing multiple pathogenic effects of the G256W variant.
eLife · Jan 6, 2025Peer-reviewedNeuroscience