Copy number variants in adult patients with Lennox–Gastaut syndrome features

@article{Lund2013CopyNV,
  title={Copy number variants in adult patients with Lennox–Gastaut syndrome features},
  author={Caroline Lund and Eylert Brodtkorb and Oddveig R{\o}sby and Olaug K. R{\o}dningen and Kaja K. Selmer},
  journal={Epilepsy Research},
  year={2013},
  volume={105},
  pages={110-117}
}
PURPOSE 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). KEY FINDINGS Eight patients (38%) carried rare CNVs that might contribute to their phenotype. The pathogenicity could be questioned in some of them… Expand
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