• Caroline Lund, Eylert Brodtkorb, Oddveig Røsby, Olaug Kristin Rødningen, and Kaja Kristine Selmer.
• National Centre for Epilepsy, Oslo University Hospital, Oslo, Norway. caroline.lund@ous-hf.no
• Epilepsy Res. 2013 Jul 1;105(1-2):110-7.

PurposeLennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy with complex etiology. To explore possible genetic predispositions and causes of LGS, we have searched for copy number variants (CNVs).MethodsWe studied 21 patients with LGS or LGS-like epilepsy for CNVs using whole-genome array comparative genomic hybridization (aCGH).Key FindingsEight patients (38%) carried rare CNVs that might contribute to their phenotype. The pathogenicity could be questioned in some of them, but in four patients (19%) a causative role was considered highly probable. Three had CNVs and clinical features consistent with known genetic syndromes: 22q13.3 deletion, 2q23.1 deletion, and MECP2 duplication.SignificanceThere is a high frequency of rare CNVs in adult patients with LGS-like epilepsy. The phenotypes of these background disorders may be obscured by the effects of intractable seizures and massive antiepileptic drug treatment. Previously, syndromic disorders were primarily identified by their clinical features; however, a genome wide approach with identification of the genotype might shed light on the phenotype.Copyright © 2013 Elsevier B.V. All rights reserved.

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