Similar articles for PMID: 16718694

Year	Number of Results
1962	1
1967	1
1973	1
1983	1
1992	1
1996	1
1997	1
1998	1
2001	1
2002	7
2003	2
2004	4
2005	6
2006	15
2007	12
2008	10
2009	12
2010	3
2011	2
2012	4
2013	2
2014	3
2015	2
2016	4
2018	2
2019	6
2020	2
2021	1
2022	2
2023	1
2024	0

1

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber YG, Schlesinger F, Ursu D, Melzer W, Cossette P, Bufler J, Lerche H, Heils A. Maljevic S, et al. Ann Neurol. 2006 Jun;59(6):983-7. doi: 10.1002/ana.20874. Ann Neurol. 2006. PMID: 16718694

2

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA. Cossette P, et al. Nat Genet. 2002 Jun;31(2):184-9. doi: 10.1038/ng885. Epub 2002 May 6. Nat Genet. 2002. PMID: 11992121

3

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy.

Krampfl K, Maljevic S, Cossette P, Ziegler E, Rouleau GA, Lerche H, Bufler J. Krampfl K, et al. Eur J Neurosci. 2005 Jul;22(1):10-20. doi: 10.1111/j.1460-9568.2005.04168.x. Eur J Neurosci. 2005. PMID: 16029191

4

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

Ito M, Ohmori I, Nakahori T, Ouchida M, Ohtsuka Y. Ito M, et al. Neurosci Lett. 2005 Aug 5;383(3):220-4. doi: 10.1016/j.neulet.2005.04.017. Epub 2005 Apr 21. Neurosci Lett. 2005. PMID: 15955415

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. Audenaert D, et al. Neurology. 2006 Aug 22;67(4):687-90. doi: 10.1212/01.wnl.0000230145.73496.a2. Neurology. 2006. PMID: 16924025 Clinical Trial.

6

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

Lachance-Touchette P, Brown P, Meloche C, Kinirons P, Lapointe L, Lacasse H, Lortie A, Carmant L, Bedford F, Bowie D, Cossette P. Lachance-Touchette P, et al. Eur J Neurosci. 2011 Jul;34(2):237-49. doi: 10.1111/j.1460-9568.2011.07767.x. Epub 2011 Jun 30. Eur J Neurosci. 2011. PMID: 21714819

7

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. Ma S, et al. Neurosci Lett. 2006 Feb 6;394(1):74-8. doi: 10.1016/j.neulet.2005.10.006. Epub 2005 Oct 25. Neurosci Lett. 2006. PMID: 16256272

8

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. Kodera H, et al. Epilepsia. 2016 Apr;57(4):566-73. doi: 10.1111/epi.13344. Epub 2016 Feb 25. Epilepsia. 2016. PMID: 26918889 Free article.

9

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A. Haug K, et al. Nat Genet. 2003 Apr;33(4):527-32. doi: 10.1038/ng1121. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612585 Retracted.

10

A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.

Urak L, Feucht M, Fathi N, Hornik K, Fuchs K. Urak L, et al. Hum Mol Genet. 2006 Aug 15;15(16):2533-41. doi: 10.1093/hmg/ddl174. Epub 2006 Jul 11. Hum Mol Genet. 2006. PMID: 16835263

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