Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 98

1.

Mutation Screening of the γ-Aminobutyric Acid Type-A Receptor Subunit γ2 Gene in Korean Patients with Childhood Absence Epilepsy.

Kim YO, Kim MK, Nam TS, Jang SY, Park KW, Kim EY, Rho YI, Woo YJ.

J Clin Neurol. 2012 Dec;8(4):271-5. doi: 10.3988/jcn.2012.8.4.271. Epub 2012 Dec 21.

2.

Mutation screen of the GABA(A) receptor gamma 2 subunit gene in Chinese patients with childhood absence epilepsy.

Lu J, Chen Y, Zhang Y, Pan H, Wu H, Xu K, Liu X, Jiang Y, Bao X, Ding K, Shen Y, Wu X.

Neurosci Lett. 2002 Oct 31;332(2):75-8.

PMID:
12384214
3.

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. 2002 Jul;59(7):1137-41.

PMID:
12117362
4.

Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures.

Chou IC, Peng CT, Huang CC, Tsai JJ, Tsai FJ, Tsai CH.

Pediatr Res. 2003 Jul;54(1):26-9. Epub 2003 Apr 2.

PMID:
12672902
5.

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 22;67(4):687-90.

PMID:
16924025
7.
8.

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. doi: 10.1016/j.pediatrneurol.2014.01.002. Epub 2014 Jan 4.

PMID:
24630281
9.

[T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy].

Lü JJ, Zhang YH, Chen YC, Pan H, Wang JL, Zhang L, Wu HS, Xu KM, Liu XY, Tao LD, Shen Y, Wu XR.

Zhonghua Er Ke Za Zhi. 2005 Feb;43(2):133-6. Chinese.

PMID:
15833171
10.

Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population.

Liang J, Zhang Y, Chen Y, Wang J, Pan H, Wu H, Xu K, Liu X, Jiang Y, Shen Y, Wu X.

Ann Hum Genet. 2007 May;71(Pt 3):325-35. Epub 2006 Nov 22.

11.

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, Williams DA, Sutherland GR, Mulley JC, Scheffer IE, Berkovic SF.

Nat Genet. 2001 May;28(1):49-52.

PMID:
11326275
12.

Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures.

Ito M, Ohmori I, Nakahori T, Ouchida M, Ohtsuka Y.

Neurosci Lett. 2005 Aug 5;383(3):220-4. Epub 2005 Apr 21.

PMID:
15955415
13.

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. 2007 Jan;36(1):40-4.

PMID:
17162195
14.

Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption.

Ponnala S, Chaudhari JR, Jaleel MA, Bhiladvala D, Kaipa PR, Das UN, Hasan Q.

Genet Test Mol Biomarkers. 2012 Jun;16(6):550-7. doi: 10.1089/gtmb.2011.0225. Epub 2012 Jan 12.

PMID:
22239287
15.

GABRG2 gene polymorphisms in Egyptian children with simple febrile seizures.

Salam SM, Rahman HM, Karam RA.

Indian J Pediatr. 2012 Nov;79(11):1514-6. doi: 10.1007/s12098-011-0564-0. Epub 2011 Oct 8.

PMID:
21983990
16.

GABAA Receptor Subunit Mutations and Genetic Epilepsies.

Macdonald RL, Kang JQ, Gallagher MJ.

In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012.

17.

Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy.

Hempelmann A, Cobilanschi J, Heils A, Muhle H, Stephani U, Weber Y, Lerche H, Sander T.

Epilepsy Res. 2007 Apr;74(1):28-32. Epub 2007 Jan 9.

PMID:
17215107
18.

Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients.

Nakayama J, Hamano K, Noguchi E, Horiuchi Y, Iwasaki N, Ohta M, Nakahara S, Naoi T, Matsui A, Arinami T.

Neurosci Lett. 2003 Jun 5;343(2):117-20.

PMID:
12759178
19.

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. 2010 Jun;55(6):375-8. doi: 10.1038/jhg.2010.47. Epub 2010 May 20.

PMID:
20485450
20.

Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy.

Lü JJ, Zhang YH, Pan H, Chen YC, Liu XY, Jiang YW, Bao XH, Shen Y, Wu HS, Xu KM, Wu XR.

Chin Med J (Engl). 2004 Oct;117(10):1497-501.

PMID:
15498372

Supplemental Content

Support Center