TY  - GEN
AU  - Li,Dong
AU  - Yuan,Hongjie
AU  - Ortiz-Gonzalez,Xilma R
AU  - Marsh,Eric D
AU  - Tian,Lifeng
AU  - McCormick,Elizabeth M
AU  - Kosobucki,Gabrielle J
AU  - Chen,Wenjuan
AU  - Schulien,Anthony J
AU  - Chiavacci,Rosetta
AU  - Tankovic,Anel
AU  - Naase,Claudia
AU  - Brueckner,Frieder
AU  - von Stülpnagel-Steinbeis,Celina
AU  - Hu,Chun
AU  - Kusumoto,Hirofumi
AU  - Hedrich,Ulrike B S
AU  - Elsen,Gina
AU  - Hörtnagel,Konstanze
AU  - Aizenman,Elias
AU  - Lemke,Johannes R
AU  - Hakonarson,Hakon
AU  - Traynelis,Stephen F
AU  - Falk,Marni J
TI  - GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
SN  - 1537-6605
PY  - 2017///0524
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Cell Death
KW  - Child
KW  - DNA Mutational Analysis
KW  - Dendrites
KW  - pathology
KW  - Electroencephalography
KW  - Exome
KW  - genetics
KW  - Female
KW  - Genes, Dominant
KW  - Glutamic Acid
KW  - metabolism
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Ketamine
KW  - therapeutic use
KW  - Magnesium
KW  - Memantine
KW  - administration & dosage
KW  - Models, Molecular
KW  - Mutation
KW  - Precision Medicine
KW  - Receptors, N-Methyl-D-Aspartate
KW  - antagonists & inhibitors
KW  - Seizures
KW  - drug therapy
KW  - Spasms, Infantile
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ajhg.2016.07.013
ER  -