CHD2 mutations in Lennox-Gastaut syndrome.

@article{Lund2014CHD2MI,
  title={CHD2 mutations in Lennox-Gastaut syndrome.},
  author={Caroline Lund and Eylert Brodtkorb and Ane-Marte \Oye and Oddveig R\osby and Kaja K. Selmer},
  journal={Epilepsy & behavior : E&B},
  year={2014},
  volume={33},
  pages={18-21}
}
Lennox-Gastaut syndrome (LGS) is an epileptic encephalopathy with a heterogeneous etiology. In this study, we aimed to explore the role of CHD2 in LGS, as CHD2 mutations have been described recently in various epileptic encephalopathies. We have previously identified one patient with a large deletion affecting the CHD2 gene in a group of 22 patients with LGS or LGS-like epilepsy. In the remaining 17 patients without known etiology, Sanger sequencing revealed a de novo 1-bp duplication in the… CONTINUE READING