Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.

Yan Liang Lin WanXinting LiuJing ZhangGang ZhuGuang Yang

Published in: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience (2023)

Our findings indicate that new missense NR2F1 pathogenetic variants may lead to IESS with abnormal visual evoked potentials. Thus, clinicians should be aware of the Bosch-Boonstra-Schaaf optic atrophy syndrome and regular monitoring of the fundus, and the optic nerve is necessary during follow-up.

Keyphrases

optic nerve
optical coherence tomography
copy number
case report
diabetic retinopathy
palliative care
intellectual disability
gene expression
autism spectrum disorder
dna methylation
genome wide analysis