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Article

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

18 Jun 2012

Abstract excerpt

PURPOSE: Ohtahara syndrome (OS) is one of the most severe and earliest forms of epilepsy. STXBP1 and ARX mutations have been reported in patients with OS. In this study, we aimed to identify new genes involved in OS by copy number analysis and whole exome sequencing. METHODS: Copy number analysis and whole exome sequencing were performed in 34 and 12 patients with OS, respectively. Fluorescence in situ...

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PMID: 22709267
DOI: 10.1111/j.1528-1167.2012.03548.x

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