000 01441 a2200409 4500
005 20250516215232.0
264 0 _c20140922
008 201409s 0 0 eng d
022 _a1528-1167
024 7 _a10.1111/epi.12663
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aVenkateswaran, Sunita
245 0 0 _aWhole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
_h[electronic resource]
260 _bEpilepsia
_cJul 2014
300 _ae75-9 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aChild, Preschool
650 0 4 _aDevelopmental Disabilities
_xcomplications
650 0 4 _aEpilepsy
_xcomplications
650 0 4 _aExome
_xgenetics
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aMutation, Missense
_xgenetics
650 0 4 _aPedigree
650 0 4 _aReceptors, N-Methyl-D-Aspartate
_xgenetics
650 0 4 _aSeverity of Illness Index
700 1 _aMyers, Ken A
700 1 _aSmith, Amanda C
700 1 _aBeaulieu, Chandree L
700 1 _aSchwartzentruber, Jeremy A
700 1 _aMajewski, Jacek
700 1 _aBulman, Dennis
700 1 _aBoycott, Kym M
700 1 _aDyment, David A
773 0 _tEpilepsia
_gvol. 55
_gno. 7
_gp. e75-9
856 4 0 _uhttps://doi.org/10.1111/epi.12663
_zAvailable from publisher's website
999 _c23893822
_d23893822