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

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.

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

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
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
Open Access

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

Alex HoránszkyAndrás Dinnyés
November 20, 2021
Comment / Editorial

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

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

Sign up to follow this feed and discover related papers.

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

4H Leukodystrophy

4H Leukodystrophy involves hypomyelination with hypogonadotropic hypogonadism and hypodontia. It is also known as POLR-3 Related Leukodystrophy. 4H syndrome symptoms include delayed or abnormal puberty, issues with central nervous system signal transmission, abnormal development of teeth, and symptoms tend to progressively get worse over time. Here is the latest research on this disease.

Absence Epilepsy

Absence epilepsy is a common seizure disorder in children which can produce chronic psychosocial sequelae. Discover the latest research on absence epilepsies here.

Adenomatous Polyposis Coli

Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.

Adult Polyglucosan Body Disease

Adult polyglucosan body disease (APBD) is a rare autosomal recessive disease characterized by defects in the glycogen brancher enzyme 1 (GBE1) gene. Discover the latest research on APBD here.

Amyloid Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a progressive nervous system disease associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is an imprinting disorder characterized by overgrowth, congenital malformations and predisposition to tumors. Discover the latest research on Beckwith-Wiedemann Syndrome here.

Benign Rolandic Epilepsy

Benign Rolandic epilepsy is a partial idiopathic epilepsy of childhood presenting with a nocturnal seizure and with a typical EEG showing centrotemporal spike and multifocal or generalized sharp slow waves. Here is the latest research.

Bullous Pemphigoid

Bullous pemphigoid is a rare immune system disorder and skin condition that causes large, fluid-filled blisters. Bullous pemphigoid commonly affects older adults and appears in areas such as the lower abdomen, upper thighs or armpits. Discover the latest research on bullous pemphigoid here.

CLOVES Syndrome

Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) syndrome is a rare genetic disorder caused by mutations in the PIK3CA gene. Symptoms include blood vessel abnormalities, small tissue tumors, skin legions and spinal abnormalities. Here is the latest research on CLOVES syndrome.

© 2022 Meta ULC. All rights reserved