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一名患有韦斯特综合征且携带核受体亚家族2 F组成员1基因（NR2F1）突变的26岁女性的长期预后。

Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation.

作者信息

Hino-Fukuyo Naomi, Kikuchi Atsuo, Yokoyama Hiroyuki, Iinuma Kazuie, Hirose Mieko, Haginoya Kazuhiro, Niihori Tetsuya, Nakayama Keiko, Aoki Yoko, Kure Shigeo

机构信息

Center for Genomic Medicine, Tohoku University, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan; Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.

Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.

出版信息

Seizure. 2017 Aug;50:144-146. doi: 10.1016/j.seizure.2017.06.018. Epub 2017 Jun 20.

DOI:10.1016/j.seizure.2017.06.018
PMID:28654857
Abstract

Long-term outcome of West syndrome with a NR2F1 mutation.

摘要

伴有NR2F1突变的韦斯特综合征的长期预后。

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