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 |