@article{ed889cbd4e72489396d99dcd8006d315,
title = "GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.",
keywords = "MENDELIAN DISORDERS, SPECTRUM DISORDERS, SEQUENCING DATA, FOCAL EPILEPSY, QUINIDINE, MEMANTINE, CHILDREN, SUBUNITS, THERAPY, APHASIA",
author = "Dong Li and Hongjie Yuan and Ortiz-Gonzalez, {Xilma R} and Marsh, {Eric D} and Lifeng Tian and McCormick, {Elizabeth M} and Kosobucki, {Gabrielle J} and Wenjuan Chen and Schulien, {Anthony J} and Rosetta Chiavacci and Anel Tankovic and Claudia Naase and Frieder Brueckner and {von St{\"u}lpnagel-Steinbeis}, Celina and Chun Hu and Hirofumi Kusumoto and Hedrich, {Ulrike B S} and Gina Elsen and Konstanze H{\"o}rtnagel and Elias Aizenman and Lemke, {Johannes R} and Hakon Hakonarson and Traynelis, {Stephen F} and Falk, {Marni J}",
note = "von Stulpnagel-Steinbeis: Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569 Vogtareuth, Germany & Institute for Transition, Rehabilitation and Palliation in Children and Adolescents, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria",
year = "2016",
doi = "10.1016/j.ajhg.2016.07.013",
language = "English",
volume = "99",
pages = "802--816",
journal = "AMERICAN JOURNAL OF HUMAN GENETICS ",
issn = "0002-9297",
publisher = "Elsevier ",
number = "4",
}