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

Human Molecular Genetics

Volumn 18, Issue 19, 2009, Pages 3626-3631

  Dibbens, Leanne M ^a,b   Mullen, Saul ^d   Helbig, I ^e   Mefford, Heather C ^f,g   Bayly, Marta A ^a   Bellows, Susannah ^d   Leu, Costin ^h   Trucks, Holger ^h   Obermeier, T ^e   Wittig, M ^z   Franke, A ^z   Caglayan, H ⁱ   Yapici, Z ^j   Sander, Thomas ^h   Eichler, Evan E ^f,g   Scheffer, Ingrid E ^d   Mulley, John C ^a,c   Berkovic, Samuel F ^d   De Jonghe, P ^k   Suls, A ^k   Hjalgrim, H ^l   Madsen, J M ^l   Moller R S ^l   Lehesjoki, A E ^m   Siren, A ^m   Gaus, V ⁿ   Janz, D ⁿ   Schmitz, B ⁿ   Elger, C E ^o   Hallmann, K ^o   Kleefuss Lie A A ^o   Kunz, W S ^o   Raabe, A ^o   Muhle, H ^e   Ostertag, P ^e   von Spiczak, S ^e   Stephani, U ^e   Lerche, H ^p   Weber, Y G ^p   Striano, P ^q   Zara, F ^q   Marini, C ^r   Brilstra, E H ^s   Kastelijn Nolst Trenite D ^s   Koeleman, B P C ^s   de Kovel, C G F ^s   Lindhout, D ^s,t   Swinkels, M E M ^s   Yalcin, D ^u   Baykan, B ^j   Turkdogan, D ^v   Dizdarer, G ^w   Ozkara, C ^j   Lee, Y ^n,x   Muller Quernheim J ^y   Folster Holst R ^e   Hofmann, S ^z   Nebel, A ^z   Schreiber, S ^z   Schurmann M ^aa   Rodriguez, E ^ab,ac   Weidinger, S ^ab,ac   Baurecht, H ^ab,ad   Lie, B A ^ae   Boberg, K M ^af   Karlsen, T H ^af   more..

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF WASHINGTON   (United States)

^h UNIVERSITY OF COLOGNE   (Germany)

ⁱ BOGAZICI UNIVERSITY   (Turkey)

^j ISTANBUL UNIVERSITY   (Turkey)

^k UNIVERSITY OF ANTWERP   (Belgium)

^l DANISH EPILEPSY CENTRE   (Denmark)

^m UNIVERSITY OF HELSINKI   (Finland)

ⁿ CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^o UNIVERSITY OF BONN   (Germany)

^p UNIVERSITY OF ULM   (Germany)

^q G GASLINI INSTITUTE   (Italy)

^r UNIVERSITY OF FLORENCE   (Italy)

^s UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^t STICHTING EPILEPSIE INSTELLINGEN NEDERLAND SEIN   (Netherlands)

^u Sisli Etfal Education Hospital   (Turkey)

^v MARMARA UNIVERSITY   (Turkey)

^w MINISTRY OF HEALTH   (Turkey)

^x MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^y UNIVERSITY OF FREIBURG   (Germany)

^z UNIVERSITY OF KIEL   (Germany)

^aa UNIVERSITY OF LÜBECK   (Germany)

^ab TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^ac UNIVERSITY OF MUNICH   (Germany)

^ad TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^ae UNIVERSITY OF OSLO   (Norway)

^af OSLO UNIVERSITY HOSPITAL   (Norway)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CAUCASIAN; CHROMOSOME 15; CHROMOSOME DELETION; COHORT ANALYSIS; EPILEPSY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; MALE; PEDIGREE;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; COHORT STUDIES; EPILEPSY; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; PEDIGREE;

EID: 70350774172     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp311     Document Type: Article

References (13)

1. Helbig, I., Scheffer, I.E., Mulley, J.C. and Berkovic, S.F. (2008) Navigating the channels and beyond: unraveling the genetics of the epilepsies. Lancet Neurol., 7, 231-245.
2. Tan, N.C.K., Mulley, J.C. and Berkovic, S.F. (2004) Genetic association studies in epilepsy: 'the truth is out there'. Epilepsia, 45, 1429-1442.
3. Hempelmann, A., Taylor, K.P., Heils, A., Lorenz, S., Prud'homme, J.F., Nabbout, R., Dulac, O., Rudolf, G., Zara, F., Bianchi, A. et al. (2006) Exploration of the genetic architecture of idiopathic generalised epilepsies. Epilepsia, 47, 1682-1690.
4. Cavalleri, G.L., Weale, M.E., Shianna, K.V., Singh, R., Lynch, J.M., Grinton, B., Szoeke, C., Murphy, K., Kinirons, P., O'Rourke, D. et al. (2007) A large-scale multi-centre effort to map genetic variants for sporadic epilepsy syndrome and seizure types. Lancet Neurol., 6, 970-980.
5. Helbig, I., Mefford, H.C., Sharp, A.J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., de Kovel, C., Baker, C., von Spiczak, S. et al. (2009) 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat. Genet., 41, 160-162.
6. Sharp, A.J., Mefford, H.C., Li, K., Baker, C., Skinner, C., Stevenson, R.E., Schroer, R.J., Novara, F., De Gregori, M., Ciccone, R. et al. (2008) A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat. Genet, 40, 322-328.
7. International Schizophrenia Consortium. (2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature, 455, 237-241.
8. Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O.P., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., Buizer-Voskamp, J.E. et al. (2008) Large recurrent microdeletions associated with schizophrenia. Nature, 455, 232-236.
9. Miller, D.T., Shen, Y., Weiss, L.A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G.F., Dickinson, H., Gentile, J., Harris, D.J. et al. (2009) Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatirc disorders. J. Med. Genet., 46, 242-248.
10. Pagnamenta, A.T., Wing, K., Akha, E.S., Knight, S.J., Bölte, S., Schmötzer, G., Duketis, E., Poustka, F., Klauck, S.M., Poustka, A. et al. (2009) A 15q13.3 microdeletion segregating with autism. Eur. J. Hum. Genet, 17, 687-692.
11. Commission on Classification and Terminology of the International League Against Epilepsy. (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia, 30, 389-399.
12. Mulley, J.C. and Dibbens, L.M. (2009) Chipping away at the common epilepsies with complex genetics: The 15q13.3 microdeletion shows the way. Genome Med., 1, 33.
13. Dibbens, L.M., Heron, S.E. and Mulley, J.C. (2007) A polygenic heterogeneity model for complex epilepsy? Genes Brain Behav., 6, 593-597.