Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

Deletions at 16p13.11 are associated with schizophrenia, mental retardation, and most recently idiopathic generalized epilepsy. To evaluate the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, we used genome-wide screens to identify copy number variation in 3...

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Glavni autori: Heinzen, Erin L., Radtke, Rodney A., Urban, Thomas J., Cavalleri, Gianpiero L., Depondt, Chantal, Need, Anna C., Walley, Nicole M., Nicoletti, Paola, Ge, Dongliang, Catarino, Claudia B., Duncan, John S., Kasperavičiūtė, Dalia, Tate, Sarah K., Caboclo, Luis O., Sander, Josemir W., Clayton, Lisa, Linney, Kristen N., Shianna, Kevin V., Gumbs, Curtis E., Smith, Jason, Cronin, Kenneth D., Maia, Jessica M., Doherty, Colin P., Pandolfo, Massimo, Leppert, David, Middleton, Lefkos T., Gibson, Rachel A., Johnson, Michael R., Matthews, Paul M., Hosford, David, Kälviäinen, Reetta, Eriksson, Kai, Kantanen, Anne-Mari, Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Wieser, Heinz-Gregor, Zumsteg, Dominik, Ortega, Marcos, Wood, Nicholas W., Huxley-Jones, Julie, Mikati, Mohamad, Gallentine, William B., Husain, Aatif M., Buckley, Patrick G., Stallings, Ray L., Podgoreanu, Mihai V., Delanty, Norman, Sisodiya, Sanjay M., Goldstein, David B.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2010
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2869004/
https://ncbi.nlm.nih.gov/pubmed/20398883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.03.018
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