Associated Papers
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
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
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
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chen CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Dimassi S et al.
Clinical Genetics, 2016
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