Literature DB >> 28654857

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-Fukuyo1, Atsuo Kikuchi2, Hiroyuki Yokoyama3, Kazuie Iinuma4, Mieko Hirose5, Kazuhiro Haginoya6, Tetsuya Niihori7, Keiko Nakayama8, Yoko Aoki9, Shigeo Kure10.   

Abstract

Long-term outcome of West syndrome with a NR2F1 mutation.
Copyright © 2017 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Entities:  

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

Mesh：

Substances：

Year:  2017        PMID： 28654857     DOI： 10.1016/j.seizure.2017.06.018

Source DB:  PubMed          Journal:  Seizure        ISSN： 1059-1311            Impact factor:   3.184


  3 in total

1.  Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.

Authors:  Chun-An Chen; Wei Wang; Steen E Pedersen; Ayush Raman; Michelle L Seymour; Fernanda R Ruiz; Anping Xia; Meike E van der Heijden; Li Wang; Jiani Yin; Joanna Lopez; Megan E Rech; Richard A Lewis; Samuel M Wu; Zhandong Liu; Fred A Pereira; Robia G Pautler; Huda Y Zoghbi; Christian P Schaaf
Journal:  Hum Mol Genet       Date:  2020-03-27       Impact factor: 6.150

Review 2.  Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.

Authors:  Michele Bertacchi; Chiara Tocco; Christian P Schaaf; Michèle Studer
Journal:  Cells       Date:  2022-04-08       Impact factor: 7.666

3.  A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review.

Authors:  Yu Sun; Lili Guo; Jing Sha; Huimin Tao; Xuezhen Wang; Ying Liu; Jingfang Zhai; Jiebin Wu; Yongxiu Zhao
Journal:  Medicine (Baltimore)       Date:  2022-10-07       Impact factor: 1.817
  3 in total

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