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