A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1843
Abstract: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression… read more here.
Keywords: angelman syndrome; multidisciplinary approach; consensus statement;
Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism
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DOI: 10.1002/mgg3.2018
Abstract: Angelman syndrome (AS) occurs due to a lack of expression or function of the maternally inherited UBE3A gene. Individuals with AS typically have significant developmental delay, severe speech impairment with absent to minimal verbal language,… read more here.
Keywords: atypical presentation; syndrome intact; language; presentation angelman ... See more keywords
Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of autism and developmental disorders"
DOI: 10.1007/s10803-020-04861-1
Abstract: We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes… read more here.
Keywords: using bayley; angelman syndrome; developmental skills; skills individuals ... See more keywords
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF
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DOI: 10.1007/s10815-018-1161-1
Abstract: In vitro fertilization (IVF) is now responsible for achieving 1– 2% of US pregnancies and subsequent births (www.cdc.gov/art). A number of factors have led to the steady increase in IVF, including increasing rates of infertility… read more here.
Keywords: risk; imprinting disorders; case; angelman syndrome ... See more keywords
Loss of Angelman Syndrome Protein E6AP Disrupts a Novel Antagonistic Estrogen-Retinoic Acid Transcriptional Crosstalk in Neurons
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DOI: 10.1007/s12035-018-0871-9
Abstract: Angelman syndrome (AS) is a complex genetic disorder that affects the nervous system. AS affects an estimated 1 in 12,000 to 20,000 individuals. Characteristic features of AS includes developmental delay or intellectual disability, severe speech… read more here.
Keywords: protein; acid transcriptional; estrogen; angelman syndrome ... See more keywords
Motor Deficits Coupled to Cerebellar and Striatal Alterations in Ube3am-/p+ Mice Modelling Angelman Syndrome Are Attenuated by Adenosine A2A Receptor Blockade.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular neurobiology"
DOI: 10.1007/s12035-020-02275-9
Abstract: Angelman syndrome (AS) is a neurogenetic disorder involving ataxia and motor dysfunction, resulting from the absence of the maternally inherited functional Ube3a protein in neurons. Since adenosine A2A receptor (A2AR) blockade relieves synaptic and motor… read more here.
Keywords: adenosine a2a; a2a receptor; blockade; angelman syndrome ... See more keywords
Generation of an iPSC line of a patient with Angelman syndrome due to an imprinting defect.
Sign Up to like & getrecommendations! Published in 2018 at "Stem cell research"
DOI: 10.1016/j.scr.2018.09.015
Abstract: Angelman syndrome (AS) is a neurodevelopmental disorder with leading symptoms of happy demeanor, intellectual disability, ataxia and seizures. AS can be caused by genetic and epigenetic aberrations, resulting in the absence of functional UBE3A protein… read more here.
Keywords: generation ipsc; due imprinting; imprinting defect; angelman syndrome ... See more keywords
Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15
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DOI: 10.1038/s41431-020-0595-y
Abstract: Angelman syndrome (AS) is a rare neurogenetic imprinting disorder caused by the loss of function of UBE3A . In ~3–5% of AS patients, the disease is due to an imprinting defect (ID). These patients lack… read more here.
Keywords: angelman syndrome; haplotype; deletion; imprinting centre ... See more keywords
Corrigendum: Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing
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DOI: 10.1038/srep46952
Abstract: This corrects the article DOI: 10.1038/srep30792. read more here.
Keywords: corrigendum angelman; syndrome derived; derived neurons; angelman syndrome ... See more keywords
Exploring Expressive Communication Skills in a Cross-Sectional Sample of Children and Young Adults With Angelman Syndrome.
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DOI: 10.1044/2016_ajslp-15-0075
Abstract: Purpose This study explores data on expressive communication skills of 300 individuals aged 0.0-21.11 years with Angelman syndrome (AS). These data provide a composite portrait of communication skills in a large sample of children and… read more here.
Keywords: children young; communication skills; communication; expressive communication ... See more keywords
Therapeutic approach to neurological manifestations of Angelman syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Expert Review of Clinical Pharmacology"
DOI: 10.1080/17512433.2022.2109463
Abstract: ABSTRACT Introduction Angelman syndrome (AS) is a neurogenetic disorder due to deficient expression of the maternal copy of the UBE3A gene, which encodes ubiquitin ligase E3A protein. Severe developmental delay, seizures and other neurological disorders… read more here.
Keywords: manifestations angelman; approach neurological; neurological manifestations; therapeutic approach ... See more keywords