000 02999 a2200973 4500
005 20250517195433.0
264 0 _c20190627
008 201906s 0 0 eng d
022 _a1460-2156
024 7 _a10.1093/brain/awx358
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aFry, Andrew E
245 0 0 _aDe novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
_h[electronic resource]
260 _bBrain : a journal of neurology
_c03 2018
300 _a698-712 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAnimals
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aDNA Mutational Analysis
650 0 4 _aExcitatory Amino Acid Agonists
_xpharmacology
650 0 4 _aFamily Health
650 0 4 _aFemale
650 0 4 _aGlutamic Acid
_xpharmacology
650 0 4 _aGlycine
_xmetabolism
650 0 4 _aHEK293 Cells
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aMagnetic Resonance Imaging
650 0 4 _aMale
650 0 4 _aMembrane Potentials
_xgenetics
650 0 4 _aModels, Molecular
650 0 4 _aMutagenesis
_xgenetics
650 0 4 _aMutation
_xgenetics
650 0 4 _aN-Methylaspartate
_xpharmacology
650 0 4 _aNerve Tissue Proteins
_xgenetics
650 0 4 _aPatch-Clamp Techniques
650 0 4 _aPolymicrogyria
_xdiagnostic imaging
650 0 4 _aRats
650 0 4 _aReceptors, N-Methyl-D-Aspartate
_xgenetics
650 0 4 _aTransfection
700 1 _aFawcett, Katherine A
700 1 _aZelnik, Nathanel
700 1 _aYuan, Hongjie
700 1 _aThompson, Belinda A N
700 1 _aShemer-Meiri, Lilach
700 1 _aCushion, Thomas D
700 1 _aMugalaasi, Hood
700 1 _aSims, David
700 1 _aStoodley, Neil
700 1 _aChung, Seo-Kyung
700 1 _aRees, Mark I
700 1 _aPatel, Chirag V
700 1 _aBrueton, Louise A
700 1 _aLayet, Valérie
700 1 _aGiuliano, Fabienne
700 1 _aKerr, Michael P
700 1 _aBanne, Ehud
700 1 _aMeiner, Vardiella
700 1 _aLerman-Sagie, Tally
700 1 _aHelbig, Katherine L
700 1 _aKofman, Laura H
700 1 _aKnight, Kristin M
700 1 _aChen, Wenjuan
700 1 _aKannan, Varun
700 1 _aHu, Chun
700 1 _aKusumoto, Hirofumi
700 1 _aZhang, Jin
700 1 _aSwanger, Sharon A
700 1 _aShaulsky, Gil H
700 1 _aMirzaa, Ghayda M
700 1 _aMuir, Alison M
700 1 _aMefford, Heather C
700 1 _aDobyns, William B
700 1 _aMackenzie, Amanda B
700 1 _aMullins, Jonathan G L
700 1 _aLemke, Johannes R
700 1 _aBahi-Buisson, Nadia
700 1 _aTraynelis, Stephen F
700 1 _aIago, Heledd F
700 1 _aPilz, Daniela T
773 0 _tBrain : a journal of neurology
_gvol. 141
_gno. 3
_gp. 698-712
856 4 0 _uhttps://doi.org/10.1093/brain/awx358
_zAvailable from publisher's website
999 _c28010218
_d28010218