Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.

February 23, 2020

Hippocampal Arc Induces Decay of Object Recognition Memory in Male Mice

M C Vishnu Shandilya, Akash Gautam
December 16, 2019

Sleep disorders in children with Angelman and Smith-Magenis syndromes: The assessment of potential causes of disrupted settling and night time waking

Research in Developmental Disabilities
Georgie AgarCaroline Richards
February 24, 2020

Angelman Syndrome: From Mouse Models to Therapy

Diana C RotaruYpe Elgersma
November 16, 2019
Open Access

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome

American Journal of Medical Genetics. Part a
Karen G C B Bindels-de HeusMarie-Claire Y de Wit
June 25, 2020

IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies

Advances in Neurobiology
Noelle D GermainStormy J Chamberlain
April 23, 2020
Open Access

CRISPR/Cas9 Epigenome Editing Potential for Rare Imprinting Diseases: A Review

Linn Amanda SydingRadislav Sedlacek
July 7, 2020
Open Access

Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing

Molecular Medicine Reports
Fen-Xia LiXue-Xi Yang
May 13, 2020

Imprinting disorders in children born after ART: a Nordic study from the CoNARTaS group

Human Reproduction
A A HenningsenØ Lidegaard
February 6, 2020

Mirtazapine for Sleep Disturbances in Angelman Syndrome: A retrospective chart review of eight pediatric cases

Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
Emily HanzlikJessica Duis
May 25, 2020

State of the Art of Genetic Testing for Patients With Autism: A Practical Guide for Clinicians

Seminars in Pediatric Neurology
Bracha L Kreiman, Richard G Boles
May 9, 2020
Open Access

Disrupted Functional and Structural Connectivity in Angelman Syndrome

AJNR. American Journal of Neuroradiology
H M YoonM S Yum
June 2, 2020
Open Access

Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches

Frontiers in Pediatrics
Merlin G Butler, Jessica Duis
May 28, 2020
Open Access

Novel Insights into the Role of UBE3A in Regulating Apoptosis and Proliferation

Journal of Clinical Medicine
Lilach SimchiHanoch Kaphzan
June 12, 2020

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning

American Journal of Medical Genetics. Part a
Diego A GomezOmar A Abdul-Rahman
March 14, 2020

Perampanel for nonepileptic myoclonus in Angelman syndrome

Brain & Development
Osamu KawanoHideaki Shiraishi
January 21, 2020

Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

Brain & Development
Hiroaki MurakamiKenji Kurosawa

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