Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Video

Updated: Dec 22, 2025

Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model
11:05

Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model

Published on: October 20, 2023

5.5K

Disrupted Functional and Structural Connectivity in Angelman Syndrome.

H M Yoon1, Y Jo2, W H Shim1,2

  • 1From the Department of Radiology and Research Institute of Radiology (H.M.Y., W.H.S., J.S.L., J.H.K.).

AJNR. American Journal of Neuroradiology
|May 9, 2020
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Deep Learning-Based Bone Age Assessment for Predicting Final Adult Height in Girls With Central Precocious Puberty.

Korean journal of radiology·2026
Same author

Therapeutic effects of selumetinib on diffuse neurofibroma and optic pathway glioma in neurofibromatosis type 1.

Journal of neuro-oncology·2026
Same author

Prenatal (1-3)IGF-1 Treatment Is Ineffective and Behaviorally Detrimental in a Rat Model of Cortical Malformation.

Brain and behavior·2026
Same author

Variation in high-amplitude events across the human lifespan.

Network neuroscience (Cambridge, Mass.)·2026
Same author

Evaluating the Accuracy and Diagnostic Reasoning of Multimodal Large Language Models in Interpreting Neuroradiology Cases From <i>RadioGraphics</i>.

Korean journal of radiology·2026
Same author

Establishing CT-derived Normative Liver and Spleen Volumes for Children: Validation in Regional and International Datasets.

Radiology·2026
This summary is machine-generated.

Children with Angelman syndrome (AS) show reduced functional connectivity and brain volume. This neuroimaging study reveals significant structural and functional brain alterations in AS patients.

Area of Science:

  • Neuroimaging
  • Neurodevelopmental disorders
  • Quantitative MRI

Background:

  • Angelman syndrome (AS) is a rare genetic disorder affecting neurodevelopment.
  • Understanding the neurobiological underpinnings of AS is crucial for developing targeted interventions.

Purpose of the Study:

  • To investigate alterations in functional connectivity (FC) and brain structures in children with AS.
  • To correlate imaging findings with the known neurobehavioral phenotype of AS.

Main Methods:

  • Utilized 3T brain MRI, including resting-state fMRI, DTI, and 3D T1-weighted imaging.
  • Analyzed FC, white matter microstructure, cortical thickness, and brain volumes in 14 AS patients and 28 controls.
  • Employed integrated quantitative imaging analysis and connectivity measures.

More Related Videos

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
06:35

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

2.3K
Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

335

Related Experiment Videos

Last Updated: Dec 22, 2025

Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model
11:05

Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model

Published on: October 20, 2023

5.5K
A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
06:35

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

2.3K
Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

335

Main Results:

  • Significantly reduced intra- and interhemispheric FC, particularly in the basal ganglia and thalamus, in AS patients.
  • Reduced fractional anisotropy in white matter tracts (corpus callosum, cingulum, etc.) in AS.
  • Gray matter volume loss in basal ganglia and diffuse white matter volume reduction observed in AS.

Conclusions:

  • Integrated quantitative MRI analysis revealed impaired functional and structural connectivity in children with AS.
  • Brain volume reduction in AS may underlie the observed motor and language deficits.
  • Findings provide insights into the neurobiological basis of the AS phenotype.