Paracelsus Medizinische Privatuniversität (PMU)

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