Kang, Seok Kyu; Vanoye, Carlos G.; Misra, Sunita N.; Echevarria, Dennis M.; Calhoun, Jeffrey D.; O'Connor, John B.; Fabre, Katarina L.; McKnight, Dianalee; Demmer, Laurie; Goldenberg, Paula; Grote, Lauren E.; Thiffault, Isabelle; Saunders, Carol; Strauss, Kevin A.; Torkamani, Ali; van der Smagt, Jasper; van Gassen, Koen; Carson, Robert P.; Diaz, Jullianne; Leon, Eyby; Jacher, Joseph E.; Hannibal, Mark C.; Litwin, Jessica; Friedman, Neil R.; Schreiber, Allison; Lynch, Bryan; Poduri, Annapurna; Marsh, Eric D.; Goldberg, Ethan M.; Millichap, John J.; George, Alfred L., Jr.; Kearney, Jennifer A.
(John Wiley & Sons Inc., 2019-12-01)
Objective: Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel K V2.1, are associated with developmental and epileptic encephalopathy (DEE). Previous functional studies on a limited number of KCNB1 ...