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

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

Long-term outcome of West syndrome with a NR2F1 mutation

Original languageEnglish
Pages (from-to)144-146
Number of pages3
JournalSeizure
Volume50
DOIs
Publication statusPublished - 2017 Aug

Keywords

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

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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