Article
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Epilepsia - 1 Jul 2013
Kodera Hirofumi, Kato Mitsuhiro, Nord Alex S, Walsh Tom, Lee Ming, Yamanaka Gaku, Tohyama Jun, Nakamura Kazuyuki, Nakagawa Eiji, Ikeda Tae, Ben-Zeev Bruria, Lev Dorit, Lerman-Sagie Tally, Straussberg Rachel, Tanabe Saori, Ueda Kazutoshi, Amamoto Masano, Ohta Sayaka, Nonoda Yutaka, Nishiyama Kiyomi, Tsurusaki Yoshinori, Nakashima Mitsuko, Miyake Noriko, Hayasaka Kiyoshi, King Mary-Claire, Matsumoto Naomichi, Saitsu Hirotomo
Abstract excerpt
PURPOSE: Early onset epileptic encephalopathies (EOEEs) are heterogeneous epileptic disorders caused by various abnormalities in causative genes including point mutations and copy number variations (CNVs). In this study, we performed targeted capture and sequencing of a subset of genes to detect point mutations and CNVs simultaneously. METHODS: We designed complementary RNA oligonucleotide probes against the...
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