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Editor’s note: Genetic factors are known to play a role in the etiology of common epilepsies such as the idiopathic generalized epilepsies (IGEs), but until recently there had been little progress in identifying causal genetic variants for such common, sporadic forms of the disease. A major theme of neuropsychiatric disease is the role of copy number variations (CNVs). CNVs are deletions or duplications of regions of a chromosome and are a form of structural genetic variation. A recurrent microdeletion at 15q13.3 was recently found to be over-represented in nine patients with epilepsy, schizophrenia, or autism (
Nat Genet2009;41:160–2). On the basis that other microdeletions that have been found to be over-represented in patients with schizophrenia and autism might also be risk factors for IGEs, the current study was carried out to examine the role of five other recurrent microdeletions that have been previously associated with neuropsychiatric conditions other than epilepsy. These microdeletions were 1q21.1, 15q11.2, 16p11.2, 16p13.11, and 22q11.2.