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

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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
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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