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Angelman syndrome due to a point mutation - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Angelman syndrome due to a point mutation

MONDO:0018461

Overview

Patient Orgs1 organizations · Angelman Syndrome Support Education and Research Trust

ResearchLimited published research (3 articles)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Angelman syndrome due to a point mutation.

3 publications have been identified in PubMed for Angelman syndrome due to a point mutation. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Dougnon G (2025). [PMID: 40930424](https://pubmed.ncbi.nlm.nih.gov/40930424/). *Brain research bulletin*. [Basic Science / Preclinical]
Chopra M (2025). [PMID: 40776598](https://pubmed.ncbi.nlm.nih.gov/40776598/). *Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale*. [Case Report / Case Series]
Roberts CT (2024). [PMID: 39108836](https://pubmed.ncbi.nlm.nih.gov/39108836/). *Frontiers in cell and developmental biology*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Angelman Syndrome Support Education and Research Trust

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:411511

GARD

Genetic and Rare Diseases Info Center

GARD:21732

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Angelman Syndrome Support Education and Research Trust and other patient organizations for support?

← Back to All Diseases

Angelman syndrome due to a point mutation

Overview

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team