202 related articles for article (PubMed ID: 32944937)
1. Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse model Gabrg2
Shen W; Poliquin S; Macdonald RL; Dong M; Kang JQ
Epilepsia; 2020 Oct; 61(10):2301-2312. PubMed ID: 32944937
[TBL] [Abstract][Full Text] [Related]
2. 4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2
Shen W; Flamm C; Delahanty AJ; Casteel E; Biven M; DeLeeuw MB; Poliquin S; Nwosu G; Randhave K; Kang JQ
Epilepsia; 2024 Jan; 65(1):204-217. PubMed ID: 37746768
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies.
Zhang CQ; McMahon B; Dong H; Warner T; Shen W; Gallagher M; Macdonald RL; Kang JQ
Epilepsia; 2019 Jun; 60(6):1137-1149. PubMed ID: 31087664
[TBL] [Abstract][Full Text] [Related]
7. Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome.
Poliquin S; Nwosu G; Randhave K; Shen W; Flamm C; Kang JQ
Int J Mol Sci; 2024 Apr; 25(9):. PubMed ID: 38731820
[TBL] [Abstract][Full Text] [Related]
8. Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2
Warner TA; Liu Z; Macdonald RL; Kang JQ
Epilepsy Res; 2017 Aug; 134():1-8. PubMed ID: 28505490
[TBL] [Abstract][Full Text] [Related]
9. The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.
Kang JQ; Shen W; Zhou C; Xu D; Macdonald RL
Nat Neurosci; 2015 Jul; 18(7):988-96. PubMed ID: 26005849
[TBL] [Abstract][Full Text] [Related]
10. Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.
Kang JQ; Shen W; Macdonald RL
Ann Neurol; 2013 Oct; 74(4):547-59. PubMed ID: 23720301
[TBL] [Abstract][Full Text] [Related]
11. The therapeutic effect of stiripentol in Gabrg2
Warner TA; Smith NK; Kang JQ
Epilepsy Res; 2019 Aug; 154():8-12. PubMed ID: 31022638
[TBL] [Abstract][Full Text] [Related]
12. Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.
Kang JQ; Macdonald RL
JAMA Neurol; 2016 Aug; 73(8):1009-16. PubMed ID: 27367160
[TBL] [Abstract][Full Text] [Related]
13. Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.
Ishii A; Kanaumi T; Sohda M; Misumi Y; Zhang B; Kakinuma N; Haga Y; Watanabe K; Takeda S; Okada M; Ueno S; Kaneko S; Takashima S; Hirose S
Epilepsy Res; 2014 Mar; 108(3):420-32. PubMed ID: 24480790
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Sleep slow-wave oscillations trigger seizures in a genetic epilepsy model of Dravet syndrome.
Catron MA; Howe RK; Besing GK; St John EK; Potesta CV; Gallagher MJ; Macdonald RL; Zhou C
Brain Commun; 2023; 5(1):fcac332. PubMed ID: 36632186
[TBL] [Abstract][Full Text] [Related]
16. A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.
Johnston AJ; Kang JQ; Shen W; Pickrell WO; Cushion TD; Davies JS; Baer K; Mullins JGL; Hammond CL; Chung SK; Thomas RH; White C; Smith PEM; Macdonald RL; Rees MI
Neurobiol Dis; 2014 Apr; 64():131-141. PubMed ID: 24407264
[TBL] [Abstract][Full Text] [Related]
17. The 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.
Tian M; Macdonald RL
J Neurosci; 2012 Apr; 32(17):5937-52. PubMed ID: 22539854
[TBL] [Abstract][Full Text] [Related]
18. Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
Huang X; Hernandez CC; Hu N; Macdonald RL
Neurobiol Dis; 2014 Aug; 68():167-79. PubMed ID: 24798517
[TBL] [Abstract][Full Text] [Related]
19. Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome.
Zhou C; Huang Z; Ding L; Deel ME; Arain FM; Murray CR; Patel RS; Flanagan CD; Gallagher MJ
J Biol Chem; 2013 Jul; 288(29):21458-21472. PubMed ID: 23744069
[TBL] [Abstract][Full Text] [Related]
20. Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.
Olympiou M; Sargiannidou I; Markoullis K; Karaiskos C; Kagiava A; Kyriakoudi S; Abrams CK; Kleopa KA
Acta Neuropathol Commun; 2016 Sep; 4(1):95. PubMed ID: 27585976
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
