Associated Papers
Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.
Liang Y et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024
Effective treatment of NR2F1-related epilepsy with perampanel.
Li X et al.
Acta Epileptologica, 2024
A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review.
Sun Y et al.
Medicine, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Billiet B et al.
Human Mutation, 2022
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Rech ME et al.
American Journal of Medical Genetics. Part A, 2020
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
Breuss MW et al.
Nature Medicine, 2020
31873310 (PubMed )
Supplement: NIHMS1544276-supplement-2.xlsx › Supplementary_Data_1
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.
Hino-Fukuyo N et al.
Seizure, 2017
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Hino-Fukuyo N et al.
Human Genetics, 2015
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