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Results: 11

1.

The quest for juvenile myoclonic epilepsy genes.

Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, DurĂ³n RM.

Epilepsy Behav. 2013 Jul;28 Suppl 1:S52-7. doi: 10.1016/j.yebeh.2012.06.033. Review.

PMID:
23756480
[PubMed - indexed for MEDLINE]
2.

Nuclear life of the voltage-gated Cacnb4 subunit and its role in gene transcription regulation.

Ronjat M, Kiyonaka S, Barbado M, De Waard M, Mori Y.

Channels (Austin). 2013 Mar-Apr;7(2):119-25. doi: 10.4161/chan.23895. Epub 2013 Mar 1.

PMID:
23511121
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy.

Tadmouri A, Kiyonaka S, Barbado M, Rousset M, Fablet K, Sawamura S, Bahembera E, Pernet-Gallay K, Arnoult C, Miki T, Sadoul K, Gory-Faure S, Lambrecht C, Lesage F, Akiyama S, Khochbin S, Baulande S, Janssens V, Andrieux A, Dolmetsch R, Ronjat M, Mori Y, De Waard M.

EMBO J. 2012 Sep 12;31(18):3730-44. doi: 10.1038/emboj.2012.226. Epub 2012 Aug 14.

PMID:
22892567
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Familial form of typical childhood absence epilepsy in a consanguineous context.

Abouda H, Hizem Y, Gargouri A, Depienne C, Bouteiller D, Riant F, Tournier-Lasserve E, Gourfinkel-An I, LeGuern E, Gouider R.

Epilepsia. 2010 Sep;51(9):1889-93. doi: 10.1111/j.1528-1167.2010.02649.x.

PMID:
20561025
[PubMed - indexed for MEDLINE]
5.

Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family.

Layouni S, Salzmann A, Guipponi M, Mouthon D, Chouchane L, Dogui M, Malafosse A.

Epilepsy Res. 2010 Jun;90(1-2):33-8. doi: 10.1016/j.eplepsyres.2010.03.004. Epub 2010 Apr 7.

PMID:
20378313
[PubMed - indexed for MEDLINE]
6.

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C.

J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010. Epub 2010 Feb 2.

PMID:
20129625
[PubMed - indexed for MEDLINE]
7.

A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.

Ohmori I, Ouchida M, Miki T, Mimaki N, Kiyonaka S, Nishiki T, Tomizawa K, Mori Y, Matsui H.

Neurobiol Dis. 2008 Dec;32(3):349-54. doi: 10.1016/j.nbd.2008.07.017. Epub 2008 Aug 3.

PMID:
18755274
[PubMed - indexed for MEDLINE]
8.

Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity.

Graves TD, Hanna MG.

J Neurol. 2008 Jul;255(7):1097-9. doi: 10.1007/s00415-008-0844-4. Epub 2008 May 2. No abstract available.

PMID:
18446307
[PubMed - indexed for MEDLINE]
9.

Ca2+ channel-independent requirement for MAGUK family CACNB4 genes in initiation of zebrafish epiboly.

Ebert AM, McAnelly CA, Srinivasan A, Linker JL, Horne WA, Garrity DM.

Proc Natl Acad Sci U S A. 2008 Jan 8;105(1):198-203. doi: 10.1073/pnas.0707948105. Epub 2008 Jan 2.

PMID:
18172207
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Animal models of geriatric epilepsy.

Murphree LJ, Rundhaugen LM, Kelly KM.

Int Rev Neurobiol. 2007;81:29-40. Review.

PMID:
17433916
[PubMed - indexed for MEDLINE]
11.

Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4.

von Brevern M, Ta N, Shankar A, Wiste A, Siegel A, Radtke A, Sander T, Escayg A.

Headache. 2006 Jul-Aug;46(7):1136-41.

PMID:
16866717
[PubMed - indexed for MEDLINE]

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