Epilepsy in Angelman syndrome: A scoping review

D Samanta - Brain and Development, 2021 - Elsevier
Angelman Syndrome (AS) is characterized by severe developmental delays including
marked speech impairment, movement abnormalities (ataxia, tremor), and unique behaviors …

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome

KGCB Bindels‐de Heus, SE Mous… - American Journal of …, 2020 - Wiley Online Library
This study presents a broad overview of health issues and psychomotor development of 100
children with Angelman syndrome (AS), seen at the ENCORE Expertise Center for AS in …

[HTML][HTML] Angelman syndrome: from mouse models to therapy

DC Rotaru, EJ Mientjes, Y Elgersma - Neuroscience, 2020 - Elsevier
The UBE3A gene is part of the chromosome 15q11-q13 region that is frequently deleted or
duplicated, leading to several neurodevelopmental disorders (NDD). Angelman syndrome …

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

MS Sidorov, GM Deck, M Dolatshahi, RL Thibert… - Journal of …, 2017 - Springer
Background Clinicians have qualitatively described rhythmic delta activity as a prominent
EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be …

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

J Duis, M Nespeca, J Summers, L Bird… - … Genetics & Genomic …, 2022 - Wiley Online Library
Background Angelman syndrome (AS) is a rare neurogenetic disorder present in
approximately 1/12,000 individuals and characterized by developmental delay, cognitive …

Prader-Willi and Angelman syndromes: mechanisms and management

VK Ma, R Mao, JN Toth, ML Fulmer… - The Application of …, 2023 - Taylor & Francis
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic imprinting
disorders resulting from absent or reduced expression of paternal or maternal genes in …

Developmental skills of individuals with Angelman syndrome assessed using the Bayley-III

A Sadhwani, A Wheeler, A Gwaltney, SU Peters… - Journal of autism and …, 2021 - Springer
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 …

[HTML][HTML] Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice

MC Judson, C Shyng, JM Simon, CR Davis, AM Punt… - JCI insight, 2021 - ncbi.nlm.nih.gov
Loss of the maternal UBE3A allele causes Angelman syndrome (AS), a debilitating
neurodevelopmental disorder. Here, we devised an AS treatment strategy based on …

Genotype–phenotype correlations in Angelman syndrome

L Yang, X Shu, S Mao, Y Wang, X Du, C Zou - Genes, 2021 - mdpi.com
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss
of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the …

Angelman syndrome: current and emerging therapies in 2016

WH Tan, LM Bird - American Journal of Medical Genetics Part …, 2016 - Wiley Online Library
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a loss of the
maternally‐inherited UBE3A; the paternal UBE3A is silenced in neurons by a mechanism …