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Updated: Sep 19, 2025

Author Spotlight: A Battery of Highly Reproducible Behavioral Tests to Validate an Angelman Syndrome Murine Model
Published on: October 20, 2023
Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling
Mathis Hildonen1, Marco Ferilli2, Ilona Krey3
1Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.
Abstract:
Hypothesis-free DNA methylation profiling in a 66-year-old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142-related disease (left panel) and led to a retrospective diagnosis of Angelman syndrome, highlighting the diagnostic potential of single-patient epigenetic screening (right panel).
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