Age-dependent genotype variations in regional [18F]SynVesT-1 VT (IDIF) values. Credit score: eBioMedicine (2025). DOI: 10.1016/j.ebiom.2025.105986
Researchers on the VIB-UAntwerp Heart for Molecular Neurology have visualized how mind community improvement is altered in a mannequin of KCNQ2-related developmental and epileptic encephalopathy, a uncommon childhood mind dysfunction. Utilizing longitudinal imaging strategies, the staff noticed variations in how mind areas talk and join, lengthy earlier than behavioral signs seem.
KCNQ2-related developmental and epileptic encephalopathy (KCNQ2-DEE) is a uncommon however extreme neurological dysfunction that impacts newborns. Kids with this situation usually develop seizures inside days after beginning and proceed to face studying and motion difficulties. The dysfunction is attributable to mutations in a potassium-channel gene that disrupts regular mind exercise.
To research how this dysfunction impacts mind improvement, the staff of Professor Sarah Weckhuysen visualized mind operate and construction all through early progress in mice carrying the identical genetic defect. The research is printed within the journal eBioMedicine.
Practical, not structural
Utilizing MRI and PET imaging, the researchers discovered that the adjustments weren’t structural, however practical, affecting how mind areas work together reasonably than how the mind is bodily constructed.
This developmental sample mirrors what researchers observe in different neurodevelopmental issues equivalent to autism and schizophrenia, suggesting that disturbances in ion-channel operate, as seen in KCNQ2, could have broader results on how mind circuits mature.
Importantly, these community disruptions appeared nicely earlier than any behavioral signs. This means that mutations in KCNQ2 not solely set off seizures, but additionally intervene with how the mind’s wiring develops.
Early intervention
“By visualizing how the brain develops, we now have a clearer view on how this disease unfolds,” says Prof. Sarah Weckhuysen, neurologist and principal investigator at VIB and the College of Antwerp. “This could help us determine when and where early treatments might be most effective.”
Weckhuysen and her staff have been investigating the organic mechanisms of KCNQ2-related encephalopathies for a number of years. In earlier work, the Weckhuysen lab recognized a recognized antipsychotic compound as a possible modulator of the identical potassium channels concerned on this dysfunction.
Weckhuysen says, “Understanding when and how these disruptions begin is crucial for developing early interventions that go beyond seizure control.”
Extra info:
Charissa Millevert et al, Imaging mind improvement in a KCNQ2-developmental and epileptic encephalopathy mouse mannequin: figuring out early biomarkers for practical and structural mind adjustments, eBioMedicine (2025). DOI: 10.1016/j.ebiom.2025.105986
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VIB (the Flanders Institute for Biotechnology)
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Imaging research reveals how brains go off-track in uncommon childhood dysfunction (2025, October 31)
retrieved 1 November 2025
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