Hongjie Yuan Kasper B Hansen Jing Zhang Tyler Mark Pierson Thomas C Markello Karin V Fuentes Fajardo Conisha M Holloman Gretchen Golas David R Adams Cornelius F Boerkoel William A Gahl Stephen F Traynelis
10.1038/ncomms4251
Nat Commun
2014;5:3251.
NO-CC CODE
https://pubmed.ncbi.nlm.nih.gov/24504326/
Receptors, N-Methyl-D-Aspartate / genetics Spasms, Infantile / genetics
Receptors, N-Methyl-D-Aspartate / genetics Spasms, Infantile / genetics Case Reports Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't Allosteric Regulation Amino Acid Sequence Amino Acid Substitution Child DNA Mutational Analysis Humans Infant Magnesium / metabolism Male Molecular Sequence Data Mutation, Missense Receptors, N-Methyl-D-Aspartate / agonists Receptors, N-Methyl-D-Aspartate / metabolism Structure-Activity Relationship Receptors, N-Methyl-D-Aspartate Magnesium N-methyl D-aspartate receptor subtype 2A
PMC3934797
24504326
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy
2014