Article
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
American journal of human genetics - 14 May 2010
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, Kasperaviciūte 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
Abstract excerpt
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 3812 patients with a diverse spectrum of epilepsy syndromes and in 1299 neurologically-normal controls. Large...
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