Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype

CONCLUSIONS: 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.PMID:38010976 | DOI:10.1002/jdn.10309

Source: International Journal of Developmental Neuroscience - November 27, 2023 Category: Neuroscience Authors: Yan Liang Lin Wan Xinting Liu Jing Zhang Gang Zhu Guang Yang Source Type: research