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	8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome.
掲載誌名	正式名：Seizure
巻・号・頁	21(4),pp.295-299
著者・共著者	Tojo Nakayama, Shin Nabatame, Yoshiaki Saito, Eiji Nakagawa, Keiko Shimojima, Toshiyuki Yamamoto, Yu Kaneko, Keiko Okumura, Hiromi Fujie, Mitsugu Uematsu, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki
発行年月	2012/05
概要	We describe two individuals with the same chromosomal aberrations derived from an unbalanced translocation between chromosomes 8p and 9p, who presented with intellectual disabilities, dysmorphic features, and localization-related epilepsy. Several years after the onset of epilepsy, aggravation of widespread epileptic discharges during sleep resulted in the emergence of absence and/or atonic seizures in both patients; one patient additionally presented with psychomotor deterioration. These symptoms completely disappeared after treatment with ethosuximide and benzodiazepines, and marked improvement was observed in electroencephalographic findings. We review the clinical features of der(8)t(8;9) with particular focus on epileptic complications. We conclude that particular types of chromosomal aberrations may have a propensity to develop the condition categorized as electrical status epilepticus in sleep.
DOI	10.1016