Article
Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Feb 2024
Liang Yan, Wan Lin, Liu Xinting, Zhang Jing, Zhu Gang, Yang Guang
Abstract excerpt
INTRODUCTION: NR2F1 pathogenetic variants are associated with the Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS). Recent studies indicate that BBSOAS patients not only have visual impairments but may also have developmental delays, hypotonia, thin corpus callosum and epileptic seizures. However, reports of BBSOAS occurrence along with infantile epileptic spasm syndrome (IESS) are rare. METHODS: Here, we...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.