584 related articles for article (PubMed ID: 19843651)
1. 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. PubMed ID: 19843651
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24246141
[TBL] [Abstract][Full Text] [Related]
3. [Submicroscopic chromosomal changes predispose to generalised epilepsy].
Møller R; Hjalgrim H
Ugeskr Laeger; 2011 Apr; 173(16-17):1201-4. PubMed ID: 21501562
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 23352738
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 19136953
[TBL] [Abstract][Full Text] [Related]
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; ; Sander T; Eichler EE; Scheffer IE; Mulley JC; Berkovic SF
Hum Mol Genet; 2009 Oct; 18(19):3626-31. PubMed ID: 19592580
[TBL] [Abstract][Full Text] [Related]
7. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM; Lal D; Lebon S; Hildebrand MS; Dahl HH; Regan BM; Feucht M; Steinböck H; Neophytou B; Ronen GM; Roche L; Gruber-Sedlmayr U; Geldner J; Haberlandt E; Hoffmann P; Herms S; Gieger C; Waldenberger M; Franke A; Wittig M; Schoch S; Becker AJ; Hahn A; Männik K; Toliat MR; Winterer G; ; Lerche H; Nürnberg P; Mefford H; Scheffer IE; Berkovic SF; Beckmann JS; ; ; Sander T; Jacquemont S; Reymond A; Zimprich F; Neubauer BA
Hum Mol Genet; 2014 Nov; 23(22):6069-80. PubMed ID: 24939913
[TBL] [Abstract][Full Text] [Related]
8. 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; 81(17):1507-14. PubMed ID: 24068782
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 22050399
[TBL] [Abstract][Full Text] [Related]
10. Epilepsy and the new cytogenetics.
Mulley JC; Mefford HC
Epilepsia; 2011 Mar; 52(3):423-32. PubMed ID: 21269290
[TBL] [Abstract][Full Text] [Related]
11. The unexpected role of copy number variations in juvenile myoclonic epilepsy.
Helbig I; Hartmann C; Mefford HC
Epilepsy Behav; 2013 Jul; 28 Suppl 1():S66-8. PubMed ID: 23756484
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 21777232
[TBL] [Abstract][Full Text] [Related]
13. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
Lal D; Ruppert AK; Trucks H; Schulz H; de Kovel CG; Kasteleijn-Nolst Trenité D; Sonsma AC; Koeleman BP; Lindhout D; Weber YG; Lerche H; Kapser C; Schankin CJ; Kunz WS; Surges R; Elger CE; Gaus V; Schmitz B; Helbig I; Muhle H; Stephani U; Klein KM; Rosenow F; Neubauer BA; Reinthaler EM; Zimprich F; Feucht M; Møller RS; Hjalgrim H; De Jonghe P; Suls A; Lieb W; Franke A; Strauch K; Gieger C; Schurmann C; Schminke U; Nürnberg P; ; Sander T
PLoS Genet; 2015 May; 11(5):e1005226. PubMed ID: 25950944
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 23448223
[TBL] [Abstract][Full Text] [Related]
15. Genetic Causes of Generalized Epilepsies.
Helbig I
Semin Neurol; 2015 Jun; 35(3):288-92. PubMed ID: 26060908
[TBL] [Abstract][Full Text] [Related]
16. High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.
Stewart LR; Hall AL; Kang SH; Shaw CA; Beaudet AL
BMC Med Genet; 2011 Nov; 12():154. PubMed ID: 22118685
[TBL] [Abstract][Full Text] [Related]
17. Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Moreira DP; Griesi-Oliveira K; Bossolani-Martins AL; Lourenço NC; Takahashi VN; da Rocha KM; Moreira ES; Vadasz E; Meira JG; Bertola D; O'Halloran E; Magalhães TR; Fett-Conte AC; Passos-Bueno MR
PLoS One; 2014; 9(9):e107705. PubMed ID: 25255310
[TBL] [Abstract][Full Text] [Related]
18. Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
Lal D; Trucks H; Møller RS; Hjalgrim H; Koeleman BP; de Kovel CG; Visscher F; Weber YG; Lerche H; Becker F; Schankin CJ; Neubauer BA; Surges R; Kunz WS; Zimprich F; Franke A; Illig T; Ried JS; Leu C; Nürnberg P; Sander T; ;
Epilepsia; 2013 Feb; 54(2):265-71. PubMed ID: 23350840
[TBL] [Abstract][Full Text] [Related]
19. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Vanlerberghe C; Petit F; Malan V; Vincent-Delorme C; Bouquillon S; Boute O; Holder-Espinasse M; Delobel B; Duban B; Vallee L; Cuisset JM; Lemaitre MP; Vantyghem MC; Pigeyre M; Lanco-Dosen S; Plessis G; Gerard M; Decamp M; Mathieu M; Morin G; Jedraszak G; Bilan F; Gilbert-Dussardier B; Fauvert D; Roume J; Cormier-Daire V; Caumes R; Puechberty J; Genevieve D; Sarda P; Pinson L; Blanchet P; Lemeur N; Sheth F; Manouvrier-Hanu S; Andrieux J
Eur J Med Genet; 2015 Mar; 58(3):140-7. PubMed ID: 25596525
[TBL] [Abstract][Full Text] [Related]
20. The role of copy number variants in the genetic architecture of common familial epilepsies.
Epi4K Consortium
Epilepsia; 2024 Mar; 65(3):792-804. PubMed ID: 38101940
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
