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Peer-reviewedCC BY-NC-ND 4.0Translational Psychiatry

Cortical dynamics in Angelman syndrome: novel insights from a preclinical mouse model

  • Manuel Scorrano1,2
  • Elena Montagni1,3
  • Abenezer Tarekegne Legesse1
  • Ludovica Iovino1
  • Chiara De Cesari4
  • Ilaria Tonazzini4
  • Anna Letizia Allegra Mascaro1,3
  • Laura Baroncelli1,5
5 affiliations
  1. 1Neuroscience Institute, CNR, via Giuseppe Moruzzi 1, Pisa, Italy
  2. 2International School of Advanced Studies, via Gentile III Da Varano, Camerino (MC), Italy
  3. 3European Laboratory for Non-Linear Spectroscopy, University of Florence, via Nello Carrara 1, Sesto Fiorentino (FI), Italy
  4. 4Nanoscience Institute, CNR, NEST-SNS, Piazza San Silvestro 12, Pisa, Italy
  5. 5IRCCS Stella Maris Foundation, viale del Tirreno 341, Calambrone (PI), Italy
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Abstract

Angelman syndrome (AS) is a neurogenetic disorder caused by the loss of function in the maternally inherited UBE3A gene, leading to a spectrum of symptoms that include developmental delays, intellectual disability, and motor impairments. While genetic and molecular mechanisms of AS are increasingly well characterized, a critical gap remains in understanding how disruptions in neuronal connectivity at the circuit level contribute to its pathophysiology. Here, we aimed to address this gap by investigating cortical connectivity alterations in a mouse model of AS. Using wide-field calcium imaging, we monitored real-time neuronal activity across the entire dorsal cortex in awake animals. Our results revealed widespread cortical hyperconnectivity in AS mice compared to wild-type controls, particularly in regions involved in motor and sensory processing. Notably, this pattern of aberrant connectivity persisted across two distinct time points in adulthood, suggesting a stable and enduring network dysfunction. These findings indicate that the absence of UBE3A function drives persistent disruptions of functional connectivity, which may underlie key clinical manifestations of AS.

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Cite

BibTeXRIS
BibTeX
@article{scorrano2026cortical,
  title = {{Cortical dynamics in Angelman syndrome: novel insights from a preclinical mouse model}},
  author = {Manuel Scorrano and Elena Montagni and Abenezer Tarekegne Legesse and Ludovica Iovino and Chiara De Cesari and Ilaria Tonazzini and Anna Letizia Allegra Mascaro and Laura Baroncelli},
  journal = {Translational Psychiatry},
  year = {2026},
  month = aug,
  doi = {10.1038/s41398-026-04254-5},
  url = {https://doi.org/10.1038/s41398-026-04254-5},
  note = {CC BY-NC-ND 4.0},
}
RIS
TY  - JOUR
TI  - Cortical dynamics in Angelman syndrome: novel insights from a preclinical mouse model
AU  - Manuel Scorrano
AU  - Elena Montagni
AU  - Abenezer Tarekegne Legesse
AU  - Ludovica Iovino
AU  - Chiara De Cesari
AU  - Ilaria Tonazzini
AU  - Anna Letizia Allegra Mascaro
AU  - Laura Baroncelli
PY  - 2026
DA  - 2026/08/29
JO  - Translational Psychiatry
DO  - 10.1038/s41398-026-04254-5
UR  - https://doi.org/10.1038/s41398-026-04254-5
AB  - Angelman syndrome (AS) is a neurogenetic disorder caused by the loss of function in the maternally inherited UBE3A gene, leading to a spectrum of symptoms that include developmental delays, intellectual disability, and motor impairments. While genetic and molecular mechanisms of AS are increasingly well characterized, a critical gap remains in understanding how disruptions in neuronal connectivity at the circuit level contribute to its pathophysiology. Here, we aimed to address this gap by investigating cortical connectivity alterations in a mouse model of AS. Using wide-field calcium imaging, we monitored real-time neuronal activity across the entire dorsal cortex in awake animals. Our results revealed widespread cortical hyperconnectivity in AS mice compared to wild-type controls, particularly in regions involved in motor and sensory processing. Notably, this pattern of aberrant connectivity persisted across two distinct time points in adulthood, suggesting a stable and enduring network dysfunction. These findings indicate that the absence of UBE3A function drives persistent disruptions of functional connectivity, which may underlie key clinical manifestations of AS.
SN  - 2158-3188
ER  -