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.

September 12, 2020
Open Access

Human Cerebral Organoids Reveal Early Spatiotemporal Dynamics and Pharmacological Responses of UBE3A

Stem Cell Reports
Dilara SenAlbert J Keung
November 21, 2020

Chronic α1-Na/K-ATPase inhibition reverses the elongation of the axon initial segment of the hippocampal CA1 pyramidal neurons in Angelman syndrome model mice

Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology
Prudhvi Raj RayiHanoch Kaphzan
September 24, 2020

Identification of Small-Molecule Activators of the Ubiquitin Ligase E6AP/UBE3A and Angelman Syndrome-Derived E6AP/UBE3A Variants

Cell Chemical Biology
Fabian OffenspergerM Scheffner
January 8, 2021
Open Access

CRISPR/Cas9 directed to the Ube3a antisense transcript improves Angelman syndrome phenotype in mice

The Journal of Clinical Investigation
Ralf S SchmidJames M Wilson
October 13, 2020
Correction
Open Access

Erratum: High-voltage, diffuse delta rhythms coincide with wakeful consciousness and complexity in Angelman syndrome

Neuroscience of Consciousness
Joel FrohlichMartin M Monti
September 4, 2020
Open Access

Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model

Child Psychiatry and Human Development
Tom WillgossTerry Jo Bichell
October 21, 2020
Open Access

Deficits in higher visual area representations in a mouse model of Angelman syndrome

Journal of Neurodevelopmental Disorders
Leah B TownsendSpencer L Smith
October 4, 2020
Open Access

Imitation in Angelman syndrome: the role of social engagement

Scientific Reports
Serena MichelettiElisa Fazzi
September 23, 2020
Open Access

Prader-Willi syndrome: reflections on seminal studies and future therapies

Open Biology
Michael S ChungGordon G Carmichael
January 6, 2021
Open Access

Development of an adapted Clinical Global Impression scale for use in Angelman syndrome

Journal of Neurodevelopmental Disorders
Alexander KolevzonJudith Jaeger
December 5, 2020
Preprint
Open Access

Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome

ResearchSquare
Nycole A Copping, Jill L Silverman
January 5, 2021

Emerging Therapies and challenges for individuals with Angelman syndrome

Current Opinion in Psychiatry
Helen S Heussler
August 21, 2020
Open Access

Evaluation of a TrkB agonist on spatial and motor learning in the Ube3a mouse model of Angelman syndrome

Learning & Memory
Maria N Schultz, Jacqueline N Crawley
September 15, 2020

Clinical and genetic analysis of a patient with Angelman syndrome due to a frameshift variant of UBE3A gene

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Zaifen GaoYi Liu
January 10, 2021
Open Access

Aberrant aggressive behavior in a mouse model of Angelman syndrome

Scientific Reports
Lilach Simchi, Hanoch Kaphzan
January 14, 2021

Descriptive analysis of the electroencephalogram in Angelman syndrome

Revista de neurologia
L F López-PájaroA Sancho-López
November 19, 2020

Quantitative EEG Analysis in Angelman Syndrome: Candidate Method for Assessing Therapeutics

Clinical EEG and Neuroscience
Luis A MartinezAnne E Anderson
August 15, 2020
Open Access

Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

Molecular Psychiatry
Marius KeuteJoerg F Hipp

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