Citations for
1EIEE74, 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
2ECA2, 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
3EIEE74, 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
4ECA2, 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
5GABRG2, 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
6GABRG2, 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
7ECA2, 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
8GABRG2, 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
9ECA2, GABRG2
Genetic influences on myoclonic and absence seizures.
Winawer MR, Rabinowitz D, Pedley TA, Hauser WA, Ottman R.
Neurology 61(11):1576-81. 2003
10GABRG2, 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
11EIEE74, 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
12GABRG2
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
13DRD5, 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
14ECA2, 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
15GABRG2
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
16ADRB2, 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
17GABRG1, 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