Publications by authors named "Mailys Rupin"
Article Synopsis
- HCN gated channels play a vital role in brain functions like learning and sensory processing, and their dysfunction is linked to brain disorders, particularly epilepsy.
- The study identifies 21 individuals with genetic variations associated with developmental delays, intellectual disabilities, and epilepsy, expanding our understanding of related disorders.
- Functional tests on specific variants revealed that some mutations significantly increased HCN2 channel conductance, while others caused loss of function and impaired channel trafficking, suggesting diverse impacts of these variants on brain function.
Context: In human, Sonic hedgehog (SHH) haploinsufficiency is the predominant cause of holoprosencephaly, a structural malformation of the forebrain midline characterized by phenotypic heterogeneity and incomplete penetrance. The NOTCH signaling pathway has recently been associated with holoprosencephaly in humans, but the precise mechanism involving NOTCH signaling during early brain development remains unknown.
Objective: The aim of this study was to evaluate the relationship between SHH and NOTCH signaling to determine the mechanism by which NOTCH dysfunction could cause midline malformations of the forebrain.