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Items: 1 to 20 of 26

1.

The idic(15) syndrome: expanding the phenotype.

Galizia EC, Palmer R, Waters JJ, Koepp MJ, Hennekam RC, Sisodiya SM.

Am J Med Genet A. 2012 Jun;158A(6):1505-8. doi: 10.1002/ajmg.a.35366. Epub 2012 May 14. No abstract available.

PMID:
22585586
2.

Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies.

Yalçın O.

Seizure. 2012 Mar;21(2):79-86. doi: 10.1016/j.seizure.2011.12.002. Epub 2011 Dec 27. Review.

3.

GABA(A) Receptors: Post-Synaptic Co-Localization and Cross-Talk with Other Receptors.

Shrivastava AN, Triller A, Sieghart W.

Front Cell Neurosci. 2011 Jun 22;5:7. doi: 10.3389/fncel.2011.00007. eCollection 2011.

4.

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG.

Hum Genet. 2011 Oct;130(4):517-28. doi: 10.1007/s00439-011-0970-4. Epub 2011 Feb 27.

PMID:
21359847
5.

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature.

Kleefstra T, de Leeuw N, Wolf R, Nillesen WM, Schobers G, Mieloo H, Willemsen M, Perrotta CS, Poddighe PJ, Feenstra I, Draaisma J, van Ravenswaaij-Arts CM.

Am J Med Genet A. 2010 Sep;152A(9):2221-9. doi: 10.1002/ajmg.a.33529. Review.

PMID:
20683990
6.

Mutations in GABAA receptor subunits associated with genetic epilepsies.

Macdonald RL, Kang JQ, Gallagher MJ.

J Physiol. 2010 Jun 1;588(Pt 11):1861-9. doi: 10.1113/jphysiol.2010.186999. Epub 2010 Mar 22. Review.

7.

Copy number variants--an unexpected risk factor for the idiopathic generalized epilepsies.

Scheffer IE, Berkovic SF.

Brain. 2010 Jan;133(Pt 1):7-8. doi: 10.1093/brain/awp332. Review. No abstract available. Erratum in: Brain. 2010 Nov;133(11):3484.

PMID:
20047903
8.

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.

Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF.

Hum Mol Genet. 2009 Oct 1;18(19):3626-31. doi: 10.1093/hmg/ddp311. Epub 2009 Jul 10.

9.

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).

Battaglia A.

Orphanet J Rare Dis. 2008 Nov 19;3:30. doi: 10.1186/1750-1172-3-30. Review.

10.

Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.

Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM.

J Med Genet. 2009 Feb;46(2):86-93. doi: 10.1136/jmg.2008.061580. Epub 2008 Oct 7.

11.

Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy.

Striano P, Coppola A, Madia F, Pezzella M, Ciampa C, Zara F, Striano S.

Epilepsia. 2007 Oct;48(10):1995-8. Epub 2007 Jul 21.

12.
14.

The mechanisms of action of gabapentin and pregabalin.

Sills GJ.

Curr Opin Pharmacol. 2006 Feb;6(1):108-13. Epub 2005 Dec 22. Review.

PMID:
16376147
15.

Pregabalin pharmacology and its relevance to clinical practice.

Ben-Menachem E.

Epilepsia. 2004;45 Suppl 6:13-8. Review.

16.

Levetiracetam may be more effective for late-onset partial epilepsy.

Bazil CW, Rose A, Resor S, Yapicular B, Hirsch LJ.

Arch Neurol. 2002 Dec;59(12):1905-8.

PMID:
12470178
17.

Mild generalized epilepsy and developmental disorder associated with large inv dup(15).

Chifari R, Guerrini R, Pierluigi M, Cavani S, Sgrò V, Elia M, Canger R, Canevini MP.

Epilepsia. 2002 Sep;43(9):1096-100.

18.
19.

Chromosome imbalances associated with epilepsy.

Schinzel A, Niedrist D.

Am J Med Genet. 2001 Summer;106(2):119-24. Review.

PMID:
11579431
20.

Possible association between childhood absence epilepsy and the gene encoding GABRB3.

Feucht M, Fuchs K, Pichlbauer E, Hornik K, Scharfetter J, Goessler R, Füreder T, Cvetkovic N, Sieghart W, Kasper S, Aschauer H.

Biol Psychiatry. 1999 Oct 1;46(7):997-1002.

PMID:
10509183

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