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Results: 1 to 20 of 105

Related Citations for PubMed (Select 23448223)

1.

Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion.

Coppola A, Bagnasco I, Traverso M, Brusco A, Di Gregorio E, Del Gaudio L, Santulli L, Caccavale C, Vigliano P, Minetti C, Striano S, Zara F, Striano P.

Epilepsia. 2013 May;54(5):e69-73. doi: 10.1111/epi.12130. Epub 2013 Feb 28.

PMID:
23448223
2.

Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.

Jähn JA, von Spiczak S, Muhle H, Obermeier T, Franke A, Mefford HC, Stephani U, Helbig I.

Epilepsy Res. 2014 Jan;108(1):109-16. doi: 10.1016/j.eplepsyres.2013.10.001. Epub 2013 Oct 26.

PMID:
24246141
3.

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.

de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T.

Brain. 2010 Jan;133(Pt 1):23-32. doi: 10.1093/brain/awp262. Epub 2009 Oct 20.

4.

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome.

Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I.

Epilepsia. 2011 Dec;52(12):e194-8. doi: 10.1111/j.1528-1167.2011.03301.x. Epub 2011 Nov 2.

5.

Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes.

Mulley JC, Scheffer IE, Desai T, Bayly MA, Grinton BE, Vears DF, Berkovic SF, Dibbens LM.

Epilepsia. 2011 Oct;52(10):e139-42. doi: 10.1111/j.1528-1167.2011.03188.x. Epub 2011 Jul 21.

PMID:
21777232
6.

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.

7.

15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria.

Kirov A, Dimova P, Todorova A, Mefford H, Todorov T, Saraylieva G, Bojinova V, Mitev V, Helbig I.

Epilepsy Res. 2013 May;104(3):241-5. doi: 10.1016/j.eplepsyres.2012.10.013. Epub 2013 Jan 23.

PMID:
23352738
8.

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.

Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T.

Nat Genet. 2009 Feb;41(2):160-2. doi: 10.1038/ng.292. Epub 2009 Jan 11.

9.

A mouse model that recapitulates cardinal features of the 15q13.3 microdeletion syndrome including schizophrenia- and epilepsy-related alterations.

Fejgin K, Nielsen J, Birknow MR, Bastlund JF, Nielsen V, Lauridsen JB, Stefansson H, Steinberg S, Sorensen HB, Mortensen TE, Larsen PH, Klewe IV, Rasmussen SV, Stefansson K, Werge TM, Kallunki P, Christensen KV, Didriksen M.

Biol Psychiatry. 2014 Jul 15;76(2):128-37. doi: 10.1016/j.biopsych.2013.08.014. Epub 2013 Oct 3.

PMID:
24090792
10.

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.

Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC.

Neurology. 2013 Oct 22;81(17):1507-14. doi: 10.1212/WNL.0b013e3182a95829. Epub 2013 Sep 25. Review. Erratum in: Neurology. 2013 Dec 10;81(24):2148. Trucks, Holger [added]; Lal, Dennis [added]; Sander, Thoman [added].

11.

Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy.

Dhamija R, Breningstall G, Wong-Kisiel L, Dolan M, Hirsch B, Wirrell E.

Pediatr Neurol. 2011 Jul;45(1):60-2. doi: 10.1016/j.pediatrneurol.2011.02.002.

PMID:
21723464
12.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Pérez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB.

J Med Genet. 2009 Aug;46(8):511-23. doi: 10.1136/jmg.2008.063412. Epub 2009 Apr 15.

13.

[Submicroscopic chromosomal changes predispose to generalised epilepsy].

Møller R, Hjalgrim H.

Ugeskr Laeger. 2011 Apr 18;173(16-17):1201-4. Danish.

PMID:
21501562
14.

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion.

Banka S, Fitzgibbon GJ, Gaunt L, Rankin WJ, Clayton-Smith J.

Am J Med Genet A. 2011 Jun;155A(6):1453-7. doi: 10.1002/ajmg.a.34034. Epub 2011 May 13.

PMID:
21574246
15.

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

Marini C, Harkin LA, Wallace RH, Mulley JC, Scheffer IE, Berkovic SF.

Brain. 2003 Jan;126(Pt 1):230-40.

16.

Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.

Hoppman-Chaney N, Wain K, Seger PR, Superneau DW, Hodge JC.

Clin Genet. 2013 Apr;83(4):345-51. doi: 10.1111/j.1399-0004.2012.01925.x. Epub 2012 Aug 7.

PMID:
22775350
17.

Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.

Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF.

Epilepsia. 2004 May;45(5):467-78.

PMID:
15101828
18.

Familial generalized epilepsy in Bulgarian Roma.

Tournev I, Royer B, Szepetowski P, Guergueltcheva V, Radionova M, Velizarova R, Yonova M, Lathrop M, Jamali S, Petkov R, Raycheva M, Genton P.

Epileptic Disord. 2007 Sep;9(3):300-6. Epub 2007 Sep 20.

PMID:
17884754
19.

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures.

Windemuth C, Schulz H, Saar K, Gennaro E, Bianchi A, Zara F, Bulteau C, Kaminska A, Ville D, Cieuta C, Nabbout-Tarantino R, Prud'homme JF, Dulac O, Bate L, Gardiner RM, Lindhout D, Wienker TF, Janz D, Sander T; European Consortium on the Genetics of Idiopathic Generalized Epilepsy.

Epilepsy Res. 2002 Sep;51(1-2):23-9.

PMID:
12350381
20.

Delineation of 15q13.3 microdeletions.

Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L.

Clin Genet. 2010 Aug;78(2):149-61. doi: 10.1111/j.1399-0004.2010.01374.x. Epub 2010 Feb 9.

PMID:
20236110
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