A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia

por Gao, Kai, Tankovic, Anel, Zhang, Yujia, Kusumoto, Hirofumi, Zhang, Jin, Chen, Wenjuan, XiangWei, Wenshu, Shaulsky, Gil H., Hu, Chun, Traynelis, Stephen F., Yuan, Hongjie, Jiang, Yuwu
Publicado 2017

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology

por Ogden, Kevin K., Chen, Wenjuan, Swanger, Sharon A., McDaniel, Miranda J., Fan, Linlin Z., Hu, Chun, Tankovic, Anel, Kusumoto, Hirofumi, Kosobucki, Gabrielle J., Schulien, Anthony J., Su, Zhuocheng, Pecha, Joseph, Bhattacharya, Subhrajit, Petrovski, Slavé, Cohen, Adam E., Aizenman, Elias, Traynelis, Stephen F., Yuan, Hongjie
Publicado 2017

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

por Pierson, Tyler Mark, Yuan, Hongjie, Marsh, Eric D, Fuentes-Fajardo, Karin, Adams, David R, Markello, Thomas, Golas, Gretchen, Simeonov, Dimitre R, Holloman, Conisha, Tankovic, Anel, Karamchandani, Manish M, Schreiber, John M, Mullikin, James C, Tifft, Cynthia J, Toro, Camilo, Boerkoel, Cornelius F, Traynelis, Stephen F, Gahl, William A
Publicado 2014