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.

January 13, 2022
Review

α6-Containing GABAA Receptors: Functional Roles and Therapeutic Potentials.

Pharmacological Reviews
Werner SieghartMing Tatt Lee
January 10, 2022

Cross-species considerations in models of neurodevelopmental disorders.

Trends in Neurosciences
Sally M TillPeter C Kind
January 6, 2022

Sex-dependent influence of postweaning environmental enrichment in Angelman syndrome model mice.

Brain and Behavior
Jameson A CosgroveAlexander D Kloth
January 4, 2022

Anxiety in Angelman Syndrome.

American Journal on Intellectual and Developmental Disabilities
Stacey C GrebeEric A Storch
January 4, 2022
Case Report

The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report.

Annals of Medicine and Surgery
Agung TrionoElisabeth Siti Herini
December 30, 2021

[Genetic analysis of a case with mosaicism of a small supernumerary marker chromosome derived from idic(15)].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Minjie ShaoPing Liu
December 16, 2021

ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Eguzkine OchoaEamonn R Maher
December 10, 2021

Lifestyle and Genetic Factors Modify Parent-of-Origin Effects on the Human Methylome.

EBioMedicine
Yanni ZengChris S Haley
December 7, 2021

Novel UBE3A pathogenic variant in a large Georgian family produces non-convulsive status epilepticus responsive to ketogenic diet.

Seizure : the Journal of the British Epilepsy Association
Gia MelikishviliOlivier Dulac
December 6, 2021
Review

SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Carlotta SpagnoliCarlo Fusco
December 2, 2021
Review
Open Access

Regulatory role of long non coding RNAs (lncRNAs) in neurological disorders: From novel biomarkers to promising therapeutic strategies.

Asian Journal of Pharmaceutical Sciences
Nirjhar BhattacharyyaAbhijit Dey
November 29, 2021
Open Access

Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity.

Biological Psychiatry Global Open Science
Joerg F HippLynne M Bird
November 28, 2021

Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.

Human Mutation
Dianalee McKnightSoma Das
November 28, 2021
Review
Open Access

Epigenetic Mechanisms of ART-Related Imprinting Disorders: Lessons From iPSC and Mouse Models.

Genes
Alex HoránszkyAndrás Dinnyés
November 20, 2021
Comment / Editorial

Transgenerational Transmission of Non-communicable Diseases: How to Break the Vicious Cycle?

Curēus
Stephen C Bronson, Veeraswamy Seshiah
November 16, 2021

The current and future applications of in situ hybridization technologies in anatomical pathology.

Expert Review of Molecular Diagnostics
Hoi Yi LeungSze Chuen Cesar Wong

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