ヤマモト　トシユキ   Yamamoto Toshiyuki   山本　俊至    所属   医学部 医学科（東京女子医科大学病院）    職種   教授
論文種別	原著
言語種別	英語
査読の有無	査読なし
表題	Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3.
掲載誌名	正式名：Epilepsia
巻・号・頁	52(7),pp.e66-69
著者・共著者	Akihisa Okumura, Toshiyuki Yamamoto, Keiko Shimojima, Yoshinobu Honda, Shinpei Abe, Mitsuru Ikeno, Toshiaki Shimizu
発行年月	2011/07
概要	There are only two reports on epileptic patients associated with microduplication of 2q. We found a de novo duplication of chromosome 2q24.2q24.3 in another infant with neonatal epilepsy. The patient had refractory focal seizures since the third day of life. Her seizures were refractory against phenobarbital and levetiracetam, but were controlled by valproate. Array comparative genomic hybridization revealed a 5.3-Mb duplication of 2q24.2q24.3, where at least 22 genes including a cluster of voltage-gated sodium channel genes (SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A) and one noncoding RNA are located.
DOI	10.1111