Research & Innovation
Publications

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

#2016

#AMERICAN JOURNAL OF HUMAN GENETICS

PMU Author
Celina von Stülpnagel-Steinbeis

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

Journal association
AMERICAN JOURNAL OF HUMAN GENETICS

Abstract

Keywords

THERAPY, CHILDREN, SPECTRUM DISORDERS, FOCAL EPILEPSY, MENDELIAN DISORDERS, SEQUENCING DATA, QUINIDINE, MEMANTINE, SUBUNITS, APHASIA

Latest Publication

#2025

#Abstract

Valentin Fischill-Neudeck, Antje van der Zee-Neuen, Margitta B. Beil-Hildebrand Strengthening Professional Health Literacy: A Theory-Based Approach to Empower Nursing Practice

#2025

#Original Article

Margaux Delporte, Johan Verbeeck, Isabella Brambilla, Georg Zimmermann, Geert Molenberghs, Rima Nabbout, Dravet syndrome, REGISTRY; RARE DISEASES; DRAVET SYNDROME; Natural history;

#2025

#Editorial

Eunkyeong Oh, Alberto Lucchini, Peter Nydahl Personalized approaches to ICU Distress

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Paracelsus Medical University (PMU) Research & Innovation Publications

GRIN2D Recurrent De Novo Dominant Mutation Causes...