文献
J-GLOBAL ID:201802240946586284
整理番号:18A1550491
HNRNPUにおける新規フレームシフト変異を有する患者で観察され片麻痺と難治性てんかんに続く二相性けいれんおよび遅発性拡散能低下を伴う急性脳症の症状発現
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU
著者 (11件):
Shimada Shino
(Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan)
,
Oguni Hirokazu
(Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan)
,
Otani Yui
(Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan)
,
Nishikawa Aiko
(Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan)
,
Ito Susumu
(Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan)
,
Eto Kaoru
(Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan)
,
Nakazawa Tomoyuki
(Department of Pediatrics, Toshima Hospital, Tokyo, Japan)
,
Yamamoto-Shimojima Keiko
(Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan)
,
Takanashi Jun-ichi
(Department of Pediatrics, Tokyo Women’s Medical University Yachiyo Medical Center, Yachiyo, Japan)
,
Nagata Satoru
(Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan)
,
Yamamoto Toshiyuki
(Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan)
資料名:
Brain & Development
(Brain & Development)
巻:
40
号:
9
ページ:
813-818
発行年:
2018年10月
JST資料番号:
W0814A
ISSN:
0387-7604
資料種別:
逐次刊行物 (A)
記事区分:
短報
発行国:
オランダ (NLD)
言語:
英語 (EN)