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Items: 1 to 20 of 136

1.

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
2.

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

Marini C, Harkin LA, Wallace RH, Mulley JC, Scheffer IE, Berkovic SF.

Brain. 2003 Jan;126(Pt 1):230-40.

PMID:
12477709
3.

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
4.

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
5.

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.

6.

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.

PMID:
11326274
7.

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
8.

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.

PMID:
15955415
9.

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):769-74. doi: 10.1007/s10038-008-0306-y.

PMID:
18566737
10.

A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.

Audenaert D, Claes L, Ceulemans B, Löfgren A, Van Broeckhoven C, De Jonghe P.

Neurology. 2003 Sep 23;61(6):854-6.

PMID:
14504340
11.

The genetics of febrile seizures and related epilepsy syndromes.

Hirose S, Mohney RP, Okada M, Kaneko S, Mitsudome A.

Brain Dev. 2003 Aug;25(5):304-12. Review.

PMID:
12850508
12.

New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p.

Nabbout R, Baulac S, Desguerre I, Bahi-Buisson N, Chiron C, Ruberg M, Dulac O, LeGuern E.

Neurology. 2007 Apr 24;68(17):1374-81.

PMID:
17452582
13.

[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. Chinese.

PMID:
19065515
14.

Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures.

Ma S, Abou-Khalil B, Blair MA, Sutcliffe JS, Haines JL, Hedera P.

Neurosci Lett. 2006 Feb 6;394(1):74-8.

PMID:
16256272
15.

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
16.

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.

Deprez L, Claes LR, Claeys KG, Audenaert D, Van Dyck T, Goossens D, Van Paesschen W, Del-Favero J, Van Broeckhoven C, De Jonghe P.

Hum Genet. 2006 Jan;118(5):618-25.

PMID:
16273391
17.

A gamma 2(R43Q) mutation, linked to epilepsy in humans, alters GABAA receptor assembly and modifies subunit composition on the cell surface.

Frugier G, Coussen F, Giraud MF, Odessa MF, Emerit MB, Boué-Grabot E, Garret M.

J Biol Chem. 2007 Feb 9;282(6):3819-28.

18.

The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum.

Kang JQ, Macdonald RL.

J Neurosci. 2004 Oct 6;24(40):8672-7. Erratum in: J Neurosci. 2004 Oct 13;24(41):1p following 9126. Kang, Jingqiong [corrected to Kang, Jing-Qiong].

19.

Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome.

Singh R, Scheffer IE, Crossland K, Berkovic SF.

Ann Neurol. 1999 Jan;45(1):75-81.

PMID:
9894880
20.

Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

Sijben AE, Sithinamsuwan P, Radhakrishnan A, Badawy RA, Dibbens L, Mazarib A, Lev D, Lerman-Sagie T, Straussberg R, Berkovic SF, Scheffer IE.

Epilepsia. 2009 Apr;50(4):953-6. doi: 10.1111/j.1528-1167.2009.02023.x.

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