BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 23408872)

  • 1. Multiple molecular mechanisms for a single GABAA mutation in epilepsy.
    Reid CA; Kim T; Phillips AM; Low J; Berkovic SF; Luscher B; Petrou S
    Neurology; 2013 Mar; 80(11):1003-8. PubMed ID: 23408872
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The GABAA receptor γ2 subunit (R43Q) mutation in febrile seizures.
    Hancili S; Önal ZE; Ata P; Karatoprak EY; Gürbüz T; Bostancı M; Paçal Y; Nuhoğlu Ç; Ceran Ö
    Pediatr Neurol; 2014 Apr; 50(4):353-6. PubMed ID: 24630281
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Temperature elevation increases GABA(A) -mediated cortical inhibition in a mouse model of genetic epilepsy.
    Hill EL; Hosie S; Mulligan RS; Richards KL; Davies PJ; Dubé CM; Baram TZ; Reid CA; Jones MV; Petrou S
    Epilepsia; 2011 Jan; 52(1):179-84. PubMed ID: 21219304
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2
    Huang X; Zhou C; Tian M; Kang JQ; Shen W; Verdier K; Pimenta A; MacDonald RL
    Epilepsia; 2017 Aug; 58(8):1451-1461. PubMed ID: 28586508
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A gamma 2(R43Q) mutation, linked to epilepsy in humans, alters GABAA receptor assembly and modifies subunit composition on the cell surface.
    Frugier G; Coussen F; Giraud MF; Odessa MF; Emerit MB; Boué-Grabot E; Garret M
    J Biol Chem; 2007 Feb; 282(6):3819-28. PubMed ID: 17148443
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Developmental impact of a familial GABAA receptor epilepsy mutation.
    Chiu C; Reid CA; Tan HO; Davies PJ; Single FN; Koukoulas I; Berkovic SF; Tan SS; Sprengel R; Jones MV; Petrou S
    Ann Neurol; 2008 Sep; 64(3):284-93. PubMed ID: 18825662
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cortical microarchitecture changes in genetic epilepsy.
    Wimmer VC; Li MY; Berkovic SF; Petrou S
    Neurology; 2015 Mar; 84(13):1308-16. PubMed ID: 25740860
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.
    Tan HO; Reid CA; Single FN; Davies PJ; Chiu C; Murphy S; Clarke AL; Dibbens L; Krestel H; Mulley JC; Jones MV; Seeburg PH; Sakmann B; Berkovic SF; Sprengel R; Petrou S
    Proc Natl Acad Sci U S A; 2007 Oct; 104(44):17536-41. PubMed ID: 17947380
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cortical alterations in a model for absence epilepsy and febrile seizures: in vivo findings in mice carrying a human GABA(A)R gamma2 subunit mutation.
    Witsch J; Golkowski D; Hahn TT; Petrou S; Spors H
    Neurobiol Dis; 2015 May; 77():62-70. PubMed ID: 25731747
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spike-and-wave discharge mediated reduction in hippocampal HCN1 channel function associates with learning deficits in a genetic mouse model of epilepsy.
    Phillips AM; Kim T; Vargas E; Petrou S; Reid CA
    Neurobiol Dis; 2014 Apr; 64():30-5. PubMed ID: 24368169
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Reduced local input to fast-spiking interneurons in the somatosensory cortex in the GABA
    Currie SP; Luz LL; Booker SA; Wyllie DJ; Kind PC; Daw MI
    Epilepsia; 2017 Apr; 58(4):597-607. PubMed ID: 28195311
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mice harboring the T316N variant in the GABA
    Jiang YL; Xia L; Zhao JJ; Zhou HM; Mi D; Wang X; Wang YY; Song CG; Jiang W
    Exp Neurol; 2024 Jun; 376():114775. PubMed ID: 38604438
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.
    Kang JQ; Macdonald RL
    J Neurosci; 2004 Oct; 24(40):8672-7. PubMed ID: 15470132
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The epilepsy mutation, gamma2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors.
    Hales TG; Tang H; Bollan KA; Johnson SJ; King DP; McDonald NA; Cheng A; Connolly CN
    Mol Cell Neurosci; 2005 May; 29(1):120-7. PubMed ID: 15866052
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit.
    Arain FM; Boyd KL; Gallagher MJ
    Epilepsia; 2012 Aug; 53(8):e161-5. PubMed ID: 22812724
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic and pharmacological modulation of giant depolarizing potentials in the neonatal hippocampus associates with increased seizure susceptibility.
    Vargas E; Petrou S; Reid CA
    J Physiol; 2013 Jan; 591(1):57-65. PubMed ID: 23006485
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.
    Warner TA; Shen W; Huang X; Liu Z; Macdonald RL; Kang JQ
    Hum Mol Genet; 2016 Aug; 25(15):3192-3207. PubMed ID: 27340224
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.
    Marini C; Harkin LA; Wallace RH; Mulley JC; Scheffer IE; Berkovic SF
    Brain; 2003 Jan; 126(Pt 1):230-40. PubMed ID: 12477709
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy.
    Xia G; P Pourali S; Warner TA; Zhang CQ; L Macdonald R; Kang JQ
    Epilepsy Res; 2016 Jul; 123():50-4. PubMed ID: 27131289
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy.
    Kang JQ; Shen W; Lee M; Gallagher MJ; Macdonald RL
    J Neurosci; 2010 Oct; 30(41):13895-905. PubMed ID: 20943930
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.