281 related articles for article (PubMed ID: 24407264)
1. 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]
2. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
Bonanni P; Malcarne M; Moro F; Veggiotti P; Buti D; Ferrari AR; Parrini E; Mei D; Volzone A; Zara F; Heron SE; Bordo L; Marini C; Guerrini R
Epilepsia; 2004 Feb; 45(2):149-58. PubMed ID: 14738422
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.
Sun H; Zhang Y; Liang J; Liu X; Ma X; Wu H; Xu K; Qin J; Qi Y; Wu X
J Hum Genet; 2008; 53(8):769-774. PubMed ID: 18566737
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. GABRG2 Deletion Linked to Genetic Epilepsy with Febrile Seizures Plus Affects the Expression of GABA
Li X; Guo S; Liu K; Zhang C; Chang H; Yang W; Rong S; Hu Q; Cui J; Wang F; Sun T
Neuroscience; 2020 Jul; 438():116-136. PubMed ID: 32418750
[TBL] [Abstract][Full Text] [Related]
7. A novel GABRG2 mutation associated with febrile seizures.
Audenaert D; Schwartz E; Claeys KG; Claes L; Deprez L; Suls A; Van Dyck T; Lagae L; Van Broeckhoven C; Macdonald RL; De Jonghe P
Neurology; 2006 Aug; 67(4):687-90. PubMed ID: 16924025
[TBL] [Abstract][Full Text] [Related]
8. The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression.
Kang JQ; Shen W; Macdonald RL
J Neurosci; 2009 Mar; 29(9):2845-56. PubMed ID: 19261880
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus].
Sun H; Zhang Y; Liu X; Ma X; Wu H; Xu K; Qi Y; Wu X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Dec; 25(6):611-5. PubMed ID: 19065515
[TBL] [Abstract][Full Text] [Related]
11. [Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].
Xu XJ; Zhang YH; Sun HH; Liu XY; Wu HS; Wu XR
Zhonghua Er Ke Za Zhi; 2012 Aug; 50(8):580-6. PubMed ID: 23158734
[TBL] [Abstract][Full Text] [Related]
12. Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area.
Polizzi A; Incorpora G; Pavone P; Ruggieri M; Annesi G; Gambardella A; Pavone L; Quattrone A
Childs Nerv Syst; 2012 Jan; 28(1):141-5. PubMed ID: 22011963
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.
Harkin LA; Bowser DN; Dibbens LM; Singh R; Phillips F; Wallace RH; Richards MC; Williams DA; Mulley JC; Berkovic SF; Scheffer IE; Petrou S
Am J Hum Genet; 2002 Feb; 70(2):530-6. PubMed ID: 11748509
[TBL] [Abstract][Full Text] [Related]
15. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.
Baulac S; Huberfeld G; Gourfinkel-An I; Mitropoulou G; Beranger A; Prud'homme JF; Baulac M; Brice A; Bruzzone R; LeGuern E
Nat Genet; 2001 May; 28(1):46-8. PubMed ID: 11326274
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Scheffer IE; Zhang YH; Jansen FE; Dibbens L
Brain Dev; 2009 May; 31(5):394-400. PubMed ID: 19203856
[TBL] [Abstract][Full Text] [Related]
18.
Hernandez CC; Shen Y; Hu N; Shen W; Narayanan V; Ramsey K; He W; Zou L; Macdonald RL
Biomolecules; 2023 Feb; 13(3):. PubMed ID: 36979350
[TBL] [Abstract][Full Text] [Related]
19. Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity.
Wang J; Shen D; Xia G; Shen W; Macdonald RL; Xu D; Kang JQ
Sci Rep; 2016 Oct; 6():35294. PubMed ID: 27762395
[TBL] [Abstract][Full Text] [Related]
20. Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.
Tian M; Mei D; Freri E; Hernandez CC; Granata T; Shen W; Macdonald RL; Guerrini R
Neurobiol Dis; 2013 Feb; 50():135-41. PubMed ID: 23069679
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
