Article
CHD2 mutations in Lennox-Gastaut syndrome.
Epilepsy & behavior : E&B - 1 Apr 2014
Lund Caroline, Brodtkorb Eylert, Øye Ane-Marte, Røsby Oddveig, Selmer Kaja Kristine
Abstract excerpt
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...
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