Publications by authors named "James Ec Jepson"
Article Synopsis
- * A study examined 28 patients from 18 families with loss of function (LOF) variants, revealing a spectrum of neurological and developmental issues including global developmental delay, intellectual disabilities, microcephaly, and behavioral abnormalities.
- * Research using fruit flies showed that mutations in the RBF gene mirrored symptoms seen in patients, affecting brain morphology and movement, and highlighted the importance of ongoing RBL2 expression in mature neurons for normal locomotion, suggesting potential therapeutic avenues.
