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

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

doi:10.1016/j.seizure.2017.06.018

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

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

Authors

Affiliations

¹ 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. Electronic address: naomi-h@zc4.so-net.ne.jp.
² Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. Electronic address: akikuchi-thk@umin.ac.jp.
³ Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. Electronic address: hiroyuki-yokoyama@umin.net.
⁴ Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. Electronic address: kazinuma@gmail.com.
⁵ Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. Electronic address: mhirose@yc5.so-net.ne.jp.
⁶ Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan; Department of Pediatric Neurology, Miyagi Children's Hospital, 4-3-17 Ochiai, Aoba-ku, Sendai 989-3126, Japan. Electronic address: khaginoya@kha.biglobe.ne.jp.
⁷ Center for Genomic Medicine, Tohoku University, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan; Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. Electronic address: tniihori@med.tohoku.ac.jp.
⁸ Division of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai 980-0872, Japan. Electronic address: nakayak2@med.tohoku.ac.jp.
⁹ Center for Genomic Medicine, Tohoku University, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan; Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. Electronic address: aokiy@med.tohoku.ac.jp.
¹⁰ Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan. Electronic address: kure@med.tohoku.ac.jp.

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

Abstract

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

Keywords: Bosch-Boonstra-Schaaf optic atrophy syndrome; Infantile spasms; Nuclear receptor subfamily 2 group F member 1 (NR2F1); West syndrome; Whole-exome sequencing.

Publication types

Case Reports

MeSH terms

Adult
COUP Transcription Factor I / genetics*
Female
Humans
Infant
Mutation, Missense / genetics
Seizures / genetics
Seizures / pathology
Seizures / physiopathology
Spasms, Infantile / genetics*
Spasms, Infantile / pathology
Spasms, Infantile / physiopathology

Substances

COUP Transcription Factor I
NR2F1 protein, human