High-throughput Evaluation of Epilepsy-associated KCNQ2 Variants Reveals Functional and Pharmacological Heterogeneity
Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani P. Jairam, Nora F. Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda S. Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George
This study evaluates 79 KCNQ2 variants using automated patch clamp recording, revealing functional and pharmacological heterogeneity and genotype-dependent retigabine responses.
JCI Insight · Feb 1, 2022Peer-reviewedNeuroscience