High throughput Characterization of KCNB1 variants Associated with Developmental and Epileptic Encephalopathy
Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria-Cooper, Jeffrey Dennis Calhoun, John B. O'Connor, Katarina L. Fabre, Dianalee McKnight, Laurie Demmer, Paula C. Goldenberg, Lauren E. Grote, Isabelle Thiffault, Carol Saunders, Kevin A. Strauss, Ali Torkamani, , Jennifer A. Kearney
This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.
Annals of Neurology · Oct 10, 2019Peer-reviewedGenetics