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

Li, Dong

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. [electronic resource] - American journal of human genetics Oct 2016 - 802-816 p. digital

Publication Type: Journal Article

1537-6605

10.1016/j.ajhg.2016.07.013 doi


Amino Acid Sequence
Base Sequence
Cell Death
Child
DNA Mutational Analysis
Dendrites--pathology
Electroencephalography
Exome--genetics
Female
Genes, Dominant--genetics
Glutamic Acid--metabolism
Humans
Infant
Infant, Newborn
Ketamine--therapeutic use
Magnesium--therapeutic use
Memantine--administration & dosage
Models, Molecular
Mutation
Precision Medicine
Receptors, N-Methyl-D-Aspartate--antagonists & inhibitors
Seizures--drug therapy
Spasms, Infantile--drug therapy