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	症例報告
言語種別	英語
査読の有無	査読あり
表題	Epilepsy phenotypes in siblings with Norrie disease.
掲載誌名	正式名：Brain & development 略　 称：Brain Dev ISSNコード：(1872-7131)0387-7604(Linking)
掲載区分	国外
巻・号・頁	37(10),pp.978-82
著者・共著者	Okumura A, Arai E, Kitamura Y, Abe S, Ikeno M, Fujimaki T, Yamamoto T, Shimizu T
発行年月	2015/11
概要	Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge of epilepsy in this condition. Three brothers with congenital blindness were diagnosed with Norrie disease after genetic analyses indicated the deletion of exon 2 of the NDP gene. The eldest brother had suffered from epileptic seizures since the age of 11years, and his seizures were resistant to antiepileptic drugs. Although the second brother had no epileptic seizures, the youngest sibling had experiences epileptic seizures since the age of 8years. His seizures were controlled using lamotrigine and levetiracetam. An electroencephalography (EEG) revealed epileptiform discharges in the occipital areas in all three brothers. A study of these patients will increase our knowledge of epilepsy in patients with Norrie disease.
DOI	10.1016/j.braindev.2015.04.004
PMID	25944760