1 | EIEE74, GABRG2
|
| De novo GABRG2 mutations associated with epileptic encephalopathies
|
| Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL.
|
| Brain. Jan;140(1):49-67. doi: 10.1093/brain/aww272. Epub 2016 Nov 17 2017
|
2 | ECA2, GABRG2
|
| A human mutation in Gabrg2 associated with generalized epilepsy alters the membrane dynamics of GABAA receptors.
|
| Bouthour W, Leroy F, Emmanuelli C, Carnaud M, Dahan M, Poncer JC, Lévi S.
|
| Cereb Cortex 22(7):1542-53. doi: 10.1093/cercor/bhr225. Epub 2011 Sep 9.
2012
|
3 | EIEE74, GABRG2, PCDH19, SCN1A, SCN1B, SMEI2
|
| The genetics of Dravet syndrome.
|
| Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R.
|
| Epilepsia 52 Suppl 2:24-9. doi: 10.1111/j.1528-1167.2011.02997.x. Review. 2011
|
4 | ECA2, EIEE74, GABRG2, GEFSP3
|
| Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.
|
| Shi X, Huang MC, Ishii A, Yoshida S, Okada M, Morita K, Nagafuji H, Yasumoto S, Kaneko S, Kojima T, Hirose S.
|
| J Hum Genet 55(6):375-8. Epub 2010 May 20.PMID: 20485450 2010
|
5 | GABRG2, GEFSP1, GEFSP2, SCB1A, SCN1B, SMEI2
|
| Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
|
| Scheffer IE, Zhang YH, Jansen FE, Dibbens L.
|
| Brain Dev 31(5):394-400. Epub 2009 Feb 8. 2009
|
6 | GABRG2, GEFSP3
|
| Association of GABRG2 polymorphisms with idiopathic generalized epilepsy.
|
| Chou IC, Lee CC, Tsai CH, Tsai Y, Wan L, Hsu YA, Li TC, Tsai FJ.
|
| Pediatr Neurol 36(1):40-4.
2007
|
7 | ECA2, GABRG2
|
| 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 104(44):17536-41. Epub 2007 Oct 18.
2007
|
8 | GABRG2, GEFSP2, SCN1A, SMEI2
|
| Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.
|
| Jansen FE, Sadleir LG, Harkin LA, Vadlamudi L, McMahon JM, Mulley JC, Scheffer IE, Berkovic SF.
|
| Neurology 67(12):2224-6.
2006
|
9 | ECA2, GABRG2
|
| Genetic influences on myoclonic and absence seizures.
|
| Winawer MR, Rabinowitz D, Pedley TA, Hauser WA, Ottman R.
|
| Neurology 61(11):1576-81.
2003
|
10 | GABRG2, ECA2
|
| A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.
|
| Kananura C, Haug K, Sander T, Runge U, Gu W, Hallmann K, Rebstock J, Heils A, Steinlein OK.
|
| Arch Neurol 59(7):1137-41. 2002
|
11 | EIEE74, GABRG2
|
| 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 70(2):530-6. Epub 2001 Dec 17. 2002
|
12 | GABRG2
|
| Identification of SNPs in human gamma aminobutyric acid A receptor gamma2 gene.
|
| Tan Z, Jiang S, Lin Z, Zhang B, Yu J, Feng G, He L.
|
| Int J Mol Med 8(2):205-9. 2001
|
13 | DRD5, GABRG2
|
| Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors.
|
| Liu F, Wan Q, Pristupa ZB, Yu XM, Wang YT, Niznik HB.
|
| Nature 403(6767):274-80 2000
|
14 | ECA2, GABRG2, GEFSP3
|
| Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2.
|
| Jiang S, Yu J, Wang J, Tan Z, Xue H, Feng G, He L, Yang H.
|
| DNA Seq 11(5):373-82. 2000
|
15 | GABRG2
|
| Genetic association of a GABA(A) receptor gamma2 subunit variant with severity of acute physiological dependence on alcohol.
|
| Buck KJ, et al.
|
| Mamm Genome 9(12):975-8. 1998
|
16 | ADRB2, CD14, CSF1R, FGF1, GABRA1, IL3, IL9, GABRG2
|
| A radiation hybrid map of 18 growth factor , growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5.
|
| Warrington JA, et al.
|
| Genomics 13 : 803-808. 1992
|
17 | GABRG1, GABRG2
|
| Human chromosomal localization of genes encoding the gamma-1 and gamma-2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome.
|
| Schantz Wilcox A, et al.
|
| Proc Natl Acad Sci U S A 89 : 5857-5861. 1992
|