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Items: 1 to 20 of 91

1.

Association between genetic variation of CACNA1H and childhood absence epilepsy.

Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, Liu X, Jiang Y, Bao X, Yao Z, Ding K, Lo WH, Qiang B, Chan P, Shen Y, Wu X.

Ann Neurol. 2003 Aug;54(2):239-43.

PMID:
12891677
2.

New variants in the CACNA1H gene identified in childhood absence epilepsy.

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

Neurosci Lett. 2006 Oct 2;406(1-2):27-32. Epub 2006 Aug 14.

PMID:
16905256
3.

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.

4.

CACNA1I is not associated with childhood absence epilepsy in the Chinese Han population.

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

Pediatr Neurol. 2006 Sep;35(3):187-90. Erratum in: Pediatr Neurol. 2006 Nov;35(5):372.

PMID:
16939858
5.

T-type calcium channel gene alpha (1G) is not associated with childhood absence epilepsy in the Chinese Han population.

Chen Y, Lu J, Zhang Y, Pan H, Wu H, Xu K, Liu X, Jiang Y, Bao X, Zhou J, Liu W, Shi G, Shen Y, Wu X.

Neurosci Lett. 2003 Apr 24;341(1):29-32.

PMID:
12676336
6.

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.

Heron SE, Khosravani H, Varela D, Bladen C, Williams TC, Newman MR, Scheffer IE, Berkovic SF, Mulley JC, Zamponi GW.

Ann Neurol. 2007 Dec;62(6):560-8.

PMID:
17696120
7.

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
8.

Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy.

Khosravani H, Bladen C, Parker DB, Snutch TP, McRory JE, Zamponi GW.

Ann Neurol. 2005 May;57(5):745-9.

PMID:
15852375
9.

A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy.

Powell KL, Cain SM, Ng C, Sirdesai S, David LS, Kyi M, Garcia E, Tyson JR, Reid CA, Bahlo M, Foote SJ, Snutch TP, O'Brien TJ.

J Neurosci. 2009 Jan 14;29(2):371-80. doi: 10.1523/JNEUROSCI.5295-08.2009.

10.

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
11.

The gene encoding GABBR1 is not associated with childhood absence epilepsy in the Chinese Han population.

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

Neurosci Lett. 2003 Jun 12;343(3):151-4.

PMID:
12770685
12.

Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.

Peloquin JB, Khosravani H, Barr W, Bladen C, Evans R, Mezeyova J, Parker D, Snutch TP, McRory JE, Zamponi GW.

Epilepsia. 2006 Mar;47(3):655-8.

13.

[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
14.

The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations.

Vitko I, Bidaud I, Arias JM, Mezghrani A, Lory P, Perez-Reyes E.

J Neurosci. 2007 Jan 10;27(2):322-30.

15.

[The effect of CACNA1H gene G773D mutation on calcium channel function].

Wang JL, Han CY, Jing YH, Chen YC, Feng N, Lu JJ, Zhang YH, Pan H, Wu HS, Xu KM, Jiang YW, Liang JM, Wang L, Wang XL, Shen Y, Wu XR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Aug;23(4):369-73. Chinese.

PMID:
16883519
16.

A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies.

Zhong X, Liu JR, Kyle JW, Hanck DA, Agnew WS.

Hum Mol Genet. 2006 May 1;15(9):1497-512. Epub 2006 Mar 24.

PMID:
16565161
17.

Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy.

Khosravani H, Altier C, Simms B, Hamming KS, Snutch TP, Mezeyova J, McRory JE, Zamponi GW.

J Biol Chem. 2004 Mar 12;279(11):9681-4. Epub 2004 Jan 16.

18.
19.

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE.

Ann Neurol. 2009 Sep;66(3):415-9. doi: 10.1002/ana.21724.

PMID:
19798636
20.

[Association of child absence epilepsy with T-STAR gene].

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

Zhonghua Yi Xue Za Zhi. 2003 Jul 10;83(13):1134-7. Chinese.

PMID:
12921630

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