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

Li, Dong; Yuan, Hongjie; Ortiz-Gonzalez, Xilma R.; Marsh, Eric D.; Tian, Lifeng; McCormick, Elizabeth M.; Kosobucki, Gabrielle J.; Chen, Wenjuan; Schulien, Anthony J.; Chiavacci, Rosetta; Tankovic, Anel; Naase, Claudia; Brueckner, Frieder; Hu, Chun; Kusumoto, Hirofumi; Hedrich, Ulrike B. S.; Elsen, Gina; Aizenman, Elias; Lemke, Johannes R.; Hakonarson, Hakon; Traynelis, Stephen F.; Falk, Marni J.; von Stülpnagel-Steinbeis, Celina; Hörtnagel, Konstanze

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

Author:

Li, Dong; Yuan, Hongjie; Ortiz-Gonzalez, Xilma R.; Marsh, Eric D.; Tian, Lifeng; McCormick, Elizabeth M.; Kosobucki, Gabrielle J.; Chen, Wenjuan; Schulien, Anthony J.; Chiavacci, Rosetta; Tankovic, Anel; Naase, Claudia; Brueckner, Frieder; Hu, Chun; Kusumoto, Hirofumi; Hedrich, Ulrike B. S.; Elsen, Gina; Aizenman, Elias; Lemke, Johannes R.; Hakonarson, Hakon; Traynelis, Stephen F.; Falk, Marni J.; von Stülpnagel-Steinbeis, Celina; Hörtnagel, Konstanze

Tübinger Autor(en):

Hedrich, Ulrike B. S.
Elsen, Gina

Published in:

American Journal of Human Genetics (2016), Bd. 99, H. 4, S. 802-816

Verlagsangabe:

Cell Press

Language:

English

Full text:

http://dx.doi.org/10.1016/j.ajhg.2016.07.013

ISSN:

1537-6605