000 02391 a2200613 4500
005 20250516090932.0
264 0 _c20120625
008 201206s 0 0 eng d
022 _a1529-2401
024 7 _a10.1523/JNEUROSCI.5332-11.2012
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aTian, Mengnan
245 0 0 _aThe intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit.
_h[electronic resource]
260 _bThe Journal of neuroscience : the official journal of the Society for Neuroscience
_cApr 2012
300 _a5937-52 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAnalysis of Variance
650 0 4 _aAnimals
650 0 4 _aBrain
_xmetabolism
650 0 4 _aCell Line, Transformed
650 0 4 _aCells, Cultured
650 0 4 _aCerebral Cortex
_xcytology
650 0 4 _aChromosomes, Artificial, Bacterial
_xgenetics
650 0 4 _aCodon, Nonsense
_xgenetics
650 0 4 _aEmbryo, Mammalian
650 0 4 _aFlow Cytometry
650 0 4 _aGene Expression Regulation
_xgenetics
650 0 4 _aHumans
650 0 4 _aImmunoprecipitation
650 0 4 _aIntrons
_xgenetics
650 0 4 _aMembrane Potentials
_xdrug effects
650 0 4 _aMice
650 0 4 _aMice, Inbred C57BL
650 0 4 _aMice, Transgenic
650 0 4 _aMicroscopy, Confocal
650 0 4 _aModels, Molecular
650 0 4 _aMutation
_xgenetics
650 0 4 _aNeurons
_xdrug effects
650 0 4 _aNonsense Mediated mRNA Decay
_xgenetics
650 0 4 _aPatch-Clamp Techniques
650 0 4 _aProtein Subunits
_xmetabolism
650 0 4 _aProtein Transport
_xgenetics
650 0 4 _aRNA Splicing
_xgenetics
650 0 4 _aRNA, Messenger
_xmetabolism
650 0 4 _aRNA, Small Interfering
_xgenetics
650 0 4 _aRats
650 0 4 _aRats, Sprague-Dawley
650 0 4 _aReceptors, GABA-A
_xgenetics
650 0 4 _aTransfection
_xmethods
650 0 4 _agamma-Aminobutyric Acid
_xpharmacology
700 1 _aMacdonald, Robert L
773 0 _tThe Journal of neuroscience : the official journal of the Society for Neuroscience
_gvol. 32
_gno. 17
_gp. 5937-52
856 4 0 _uhttps://doi.org/10.1523/JNEUROSCI.5332-11.2012
_zAvailable from publisher's website
999 _c21737541
_d21737541