Imaging brain development in a KCNQ2-developmental and epileptic encephalopathy mouse model: identifying early biomarkers for functional and structural brain changes.

ABSTRACT:

Background

KCNQ2-developmental and epileptic encephalopathy (KCNQ2-DEE) is a severe neurodevelopmental disorder (NDD) characterised by early-life seizures but persistent cognitive impairment. The absence of early, quantifiable preclinical biomarkers for neurodevelopmental dysfunction limits the evaluation of new treatments. We hypothesise that key brain maturation processes are altered early in disease development and could serve as biomarkers for neurodevelopmental dysfunction.

Methods

We performed longitudinal in-vivo brain imaging in 37 kcnq2^Thr274Met/+ (KI) mice and 31 wild-type (WT) controls at three developmental stages: infancy (P14-21), juvenile (P32-42), and adulthood (P83-106). Resting-state functional MRI (rs-fMRI) assessed functional connectivity (FC),

SUBMITTER: Millevert C 

PROVIDER: S-EPMC12595386 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature