GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

著者: Dong Li, Hongjie Yuan, Xilma R. Ortiz‐González, Eric D. Marsh, Lifeng Tian, Elizabeth M. McCormick, Gabrielle J. Kosobucki, Wenjuan Chen, Anthony J. Schulien, Rosetta Chiavacci, Anel Tankovic, Claudia Naase, F Brueckner, Celina von Stülpnagel-Steinbeis, Chun Hu, Hirofumi Kusumoto, Ulrike B. S. Hedrich, Gina E. Elsen, Konstanze Hörtnagel, Elias Aizenman, Johannes R. Lemke, Håkon Håkonarson, Stephen F. Traynelis, Marni J. Falk - The American Journal of Human Genetics 2016 被引用: 183