000 | 01708 a2200481 4500 | ||
---|---|---|---|
005 | 20250518052405.0 | ||
264 | 0 | _c20200513 | |
008 | 202005s 0 0 eng d | ||
022 | _a2328-9503 | ||
024 | 7 |
_a10.1002/acn3.50815 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aLee, Wei Shern | |
245 | 0 | 0 |
_aSecond-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA. _h[electronic resource] |
260 |
_bAnnals of clinical and translational neurology _c07 2019 |
||
300 |
_a1338-1344 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aBrain _xdiagnostic imaging |
650 | 0 | 4 |
_aCerebral Cortex _xdiagnostic imaging |
650 | 0 | 4 | _aChild |
650 | 0 | 4 |
_aDrug Resistant Epilepsy _xgenetics |
650 | 0 | 4 |
_aGTPase-Activating Proteins _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMalformations of Cortical Development _xdiagnostic imaging |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aNeurons _xpathology |
650 | 0 | 4 |
_aTOR Serine-Threonine Kinases _xgenetics |
700 | 1 | _aStephenson, Sarah E M | |
700 | 1 | _aHowell, Katherine B | |
700 | 1 | _aPope, Kate | |
700 | 1 | _aGillies, Greta | |
700 | 1 | _aWray, Alison | |
700 | 1 | _aMaixner, Wirginia | |
700 | 1 | _aMandelstam, Simone A | |
700 | 1 | _aBerkovic, Samuel F | |
700 | 1 | _aScheffer, Ingrid E | |
700 | 1 | _aMacGregor, Duncan | |
700 | 1 | _aHarvey, Anthony Simon | |
700 | 1 | _aLockhart, Paul J | |
700 | 1 | _aLeventer, Richard J | |
773 | 0 |
_tAnnals of clinical and translational neurology _gvol. 6 _gno. 7 _gp. 1338-1344 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/acn3.50815 _zAvailable from publisher's website |
999 |
_c29948113 _d29948113 |