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Items: 1 to 20 of 125

1.

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Popp B, Trollmann R, Büttner C, Caliebe A, Thiel CT, Hüffmeier U, Reis A, Zweier C.

Eur J Med Genet. 2016 Oct;59(10):549-53. doi: 10.1016/j.ejmg.2016.09.002. Epub 2016 Sep 7.

PMID:
27613244
2.

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad CE, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S.

Neurology. 2016 Sep 13;87(11):1140-51. doi: 10.1212/WNL.0000000000003087. Epub 2016 Aug 12.

PMID:
27521439
3.

Association study of GABA system genes polymorphisms with amphetamine-induced psychotic disorder in a Han Chinese population.

Zhang K, Zhao Y, Wang Q, Jiang H, Du J, Yu S, Zhao M.

Neurosci Lett. 2016 May 27;622:37-44. doi: 10.1016/j.neulet.2016.04.019. Epub 2016 Apr 11.

PMID:
27080428
4.

De novo GABRA1 mutations in Ohtahara and West syndromes.

Kodera H, Ohba C, Kato M, Maeda T, Araki K, Tajima D, Matsuo M, Hino-Fukuyo N, Kohashi K, Ishiyama A, Takeshita S, Motoi H, Kitamura T, Kikuchi A, Tsurusaki Y, Nakashima M, Miyake N, Sasaki M, Kure S, Haginoya K, Saitsu H, Matsumoto N.

Epilepsia. 2016 Apr;57(4):566-73. doi: 10.1111/epi.13344. Epub 2016 Feb 25.

5.

Polymorphism rs4263535 in GABRA1 intron 4 was related to deeper sedation by intravenous midazolam.

Choi YJ, Lee SY, Yang KS, Park JY, Yoon SZ, Yoon SM.

J Int Med Res. 2015 Oct;43(5):686-98. doi: 10.1177/0300060515587580. Epub 2015 Aug 6.

PMID:
26249742
6.

[Excitatory GABA signaling in epilepsy].

Koyama R.

Seikagaku. 2014 Dec;86(6):803-6. Review. Japanese. No abstract available.

PMID:
25675822
7.

Tobacco smoking interferes with GABAA receptor neuroadaptations during prolonged alcohol withdrawal.

Cosgrove KP, McKay R, Esterlis I, Kloczynski T, Perkins E, Bois F, Pittman B, Lancaster J, Glahn DC, O'Malley S, Carson RE, Krystal JH.

Proc Natl Acad Sci U S A. 2014 Dec 16;111(50):18031-6. doi: 10.1073/pnas.1413947111. Epub 2014 Dec 1.

8.

Association between GABA(A) receptor subunit gene cluster and zolpidem-induced complex sleep behaviors in Han Chinese.

Tsai JH, Yang P, Lin HH, Cheng KH, Yang YH, Wu MT, Chen CC.

Sleep. 2013 Feb 1;36(2):197-202. doi: 10.5665/sleep.2372.

9.

[Relationship between gene polymorphism of GABAA receptors gene and childhood autism].

Lu GB, Ou P, Xu LP, Huang HL, Cheng L, Yang SW, Qian QF, Huang Y, Xie YQ, Yu QJ, Wang ZQ, Lin Y.

Zhonghua Yu Fang Yi Xue Za Zhi. 2012 May;46(5):460-4. Chinese.

PMID:
22883737
10.

Characterisation of the contribution of the GABA-benzodiazepine α1 receptor subtype to [(11)C]Ro15-4513 PET images.

Myers JF, Rosso L, Watson BJ, Wilson SJ, Kalk NJ, Clementi N, Brooks DJ, Nutt DJ, Turkheimer FE, Lingford-Hughes AR.

J Cereb Blood Flow Metab. 2012 Apr;32(4):731-44. doi: 10.1038/jcbfm.2011.177. Epub 2012 Jan 4.

11.

Discrete M3-M4 intracellular loop subdomains control specific aspects of γ-aminobutyric acid type A receptor function.

O'Toole KK, Jenkins A.

J Biol Chem. 2011 Nov 4;286(44):37990-9. doi: 10.1074/jbc.M111.258012. Epub 2011 Sep 8.

12.

Selective pyramidal cell reduction of GABA(A) receptor α1 subunit messenger RNA expression in schizophrenia.

Glausier JR, Lewis DA.

Neuropsychopharmacology. 2011 Sep;36(10):2103-10. doi: 10.1038/npp.2011.102. Epub 2011 Jun 15.

13.

Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome.

Heulens I, D'Hulst C, Braat S, Rooms L, Kooy RF.

ScientificWorldJournal. 2010 Nov 4;10:2198-206. doi: 10.1100/tsw.2010.211. Review.

14.

GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors.

Ding L, Feng HJ, Macdonald RL, Botzolakis EJ, Hu N, Gallagher MJ.

J Biol Chem. 2010 Aug 20;285(34):26390-405. doi: 10.1074/jbc.M110.142299. Epub 2010 Jun 15.

15.

Defective cerebral gamma-aminobutyric acid-A receptor density in patients with systemic lupus erythematosus and central nervous system involvement. An observational study.

Mathieu A, Vacca A, Serra A, Cauli A, Piga M, Porru G, Marrosu F, Sanna G, Piga M.

Lupus. 2010 Jul;19(8):918-26. doi: 10.1177/0961203310364398. Epub 2010 Apr 28.

PMID:
20427410
16.

A conserved Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly.

Lo WY, Botzolakis EJ, Tang X, Macdonald RL.

J Biol Chem. 2008 Oct 31;283(44):29740-52. doi: 10.1074/jbc.M802856200. Epub 2008 Aug 21.

17.

Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor.

Bradley CA, Taghibiglou C, Collingridge GL, Wang YT.

J Biol Chem. 2008 Aug 8;283(32):22043-50. doi: 10.1074/jbc.M801708200. Epub 2008 Jun 5.

18.

The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation.

Gallagher MJ, Ding L, Maheshwari A, Macdonald RL.

Proc Natl Acad Sci U S A. 2007 Aug 7;104(32):12999-3004. Epub 2007 Aug 1.

19.

GABA(A)-receptor mRNA expression in the prefrontal and temporal cortex of ALS patients.

Petri S, Kollewe K, Grothe C, Hori A, Dengler R, Bufler J, Krampfl K.

J Neurol Sci. 2006 Dec 1;250(1-2):124-32. Epub 2006 Oct 2.

PMID:
17011586
20.

Association between GABRA1 and drinking behaviors in the collaborative study on the genetics of alcoholism sample.

Dick DM, Plunkett J, Wetherill LF, Xuei X, Goate A, Hesselbrock V, Schuckit M, Crowe R, Edenberg HJ, Foroud T.

Alcohol Clin Exp Res. 2006 Jul;30(7):1101-10.

PMID:
16792556

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