title: Copy number variants in adult patients with Lennox-Gastaut syndrome features.
abstract: OBJECTIVE
  Lennox-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).
  
  
  METHODS
  We studied 21 patients with LGS or LGS-like epilepsy for CNVs using whole-genome array comparative genomic hybridization (aCGH).
  
  
  RESULTS
  Eight 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.
  
  
  CONCLUSIONS
  There 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.
authors: National Centre for Epilepsy, Oslo University Hospital, Oslo, Norway. caroline.lund@ous-hf.no
authors: Caroline
authors: C
authors: Lund
authors: Eylert
authors: E
authors: Brodtkorb
authors: Oddveig
authors: O
authors: Røsby
authors: Olaug Kristin
authors: OK
authors: Rødningen
authors: Kaja Kristine
authors: KK
authors: Selmer
mesh_terms: D000293:Adolescent; D000328:Adult; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D065768:Lennox Gastaut Syndrome; D008297:Male; D008875:Middle Aged; D013036:Spasms, Infantile / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult