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Neurotherapeutics, 2015 In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures.
Margolis, Seth S +3 more
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Angelman syndrome in adulthood [PDF]
American Journal of Medical Genetics, 1996 We studied the clinical and EEG-findings in 28 adult patients (aged 20-53 years) with Angelman syndrome (AS). Twenty-three showed a maternal chromosome 15q11-13 deletion; in 5, the diagnosis was based on a combination of typical clinical findings.
Laan, L. van der +4 more
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Genetics of Angelman Syndrome [PDF]
The American Journal of Human Genetics, 1999 We apologize to the many authors whose primary data could not be cited because of limitations of space. We thank Grace Watson for great assistance in preparation of the manuscript. This work is supported by NIH grant HD 37283.
Jiang, Yong-hui +4 more
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Neurosciences, 2004 Angelman syndrome is characterized by severe mental retardation, absence of speech, bursts of laughter, ataxia, seizure disorder and facial dysmorphism. This report describes the first 3 children with Angelman syndrome from Bahrain. The diagnosis was based on clinical features and confirmed by the presence of microdeletion of 15q11q13 using ...
Fatima N, Mahmood +2 more
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American Journal on Intellectual and Developmental Disabilities, 2022 Abstract Angelman Syndrome (AS) is a neurodevelopmental disorder most commonly caused by the impaired expression of the maternal UBE3A gene on chromosome 15. Though anxiety has been identified as a frequently present characteristic in AS, there are limited studies examining anxiety in this population.
Grebe, Stacey +13 more
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Epilepsy in Angelman syndrome [PDF]
Seizure, 2008 Angelman syndrome is a neurogenetic disorder caused by lack of UBE3A gene expression from the maternally inherited chromosome 15 due to various 15q11-q13 abnormalities. In addition to severe developmental delay, virtual absence of speech, motor impairment, a behavioural phenotype that includes happy demeanor, and distinctive rhythmic ...
Pelc, Karine +3 more
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Angelman syndrome in adulthood [PDF]
American Journal of Medical Genetics Part A, 2014 Angelman syndrome (AS) is a neurogenetic disorder. The goal of this study was to investigate the primary health issues affecting adults with AS and to further characterize the natural history and genotype–phenotype correlations. Standardized phone interviews with caregivers for 110 adolescents and adults with AS were conducted.
Anna M, Larson +4 more
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley +1 more source