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Angelman Syndrome [PDF]

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.
Seth Margolis, Lynne Bird
exaly   +7 more sources

Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers’ survey [PDF]

Orphanet Journal of Rare Diseases
Background Angelman Syndrome (AS) is a rare neurogenetic disorder characterized by severe intellectual disability, seizures, and motor and speech impairments, requiring lifelong, intensive care.
Dariusz Walkowiak, Karolina Pospieszyńska-Martysiuk, Hanna Dianow, Joanna Węgrzyn, Jan Domaradzki   +4 more
doaj   +2 more sources

Evaluating different scoring algorithms to assess communication ability for individuals living with Angelman syndrome: the Observer-Reported Communication Ability (ORCA) measure [PDF]

Journal of Patient-Reported Outcomes
Background Many neurodevelopmental disorders are associated with significantly impaired communication that impacts the individuals and their families’ daily activities.
Bryce B. Reeve, Li Lin, Abigail Rader, Nicole Lucas, Kelly L. Gordon, Molly McFatrich, Allyson Berent, Harrison N. Jones   +7 more
doaj   +2 more sources

Crossing the finish line towards a disease-modifying treatment for Angelman syndrome [PDF]

Journal of Neurodevelopmental Disorders
Recent progress in the development of genetic therapies promises that impactful treatments for single-gene neurodevelopmental disorders are imminent. But can derailed neurodevelopmental processes be mended after broken genes are replaced or otherwise ...
Matthew C. Judson, Luis Pereira de Almeida, Rebecca D. Burdine, Stormy J. Chamberlain, Benjamin E. Deverman, Ben Distel, Michael D. Ehlers, Elizabeth Jalazo, Steven A. Kushner, Mark Nespeca, Stephan J. Sanders, Martin Scheffner, Jason J. Yi, Mark J. Zylka, Ype Elgersma, Benjamin D. Philpot   +15 more
doaj   +2 more sources

Outcomes After Tonsillectomy in Children With Angelman Syndrome [PDF]

Journal of Otolaryngology - Head and Neck Surgery
Importance Angelman syndrome is a rare genetic disorder characterized by developmental delay, sleep disturbances, and a happy demeanor. Tonsillectomies are common procedures for individuals with Angelman syndrome, and their postoperative recovery may be ...
Meera Chopra BSc, Jennifer M. Siu MD, Erick Sell MD, Jane Summers PhD, Jackie Chiang MD, Evan J. Propst MD, Evelina Pankiv MD, Nikolaus E. Wolter MD   +7 more
doaj   +2 more sources

UBE3A stabilization of β-catenin preserves synaptic proteins essential for motor and cognitive functions in Angelman Syndrome [PDF]

Molecular Autism
Background Ubiquitin protein ligase E3A (UBE3A) regulates signaling pathways associated with autism spectrum disorders (ASDs). As an E3 ligase, UBE3A ubiquitinates and promotes the degradation of proteins crucial for regulating synaptic plasticity and ...
Xin Yang, Yuwen-Alvin Huang, John Marshall   +2 more
doaj   +2 more sources

Angelman Syndrome

British Journal of Plastic Surgery, 1993
Dagli AI, Mathews J, Williams CA.
europepmc   +3 more sources

Angelman syndrome

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, Fouad A, Ali, Ayman K, Ali   +2 more
  +5 more sources

Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome

eLife, 2023
UBE3A encodes ubiquitin protein ligase E3A, and in neurons its expression from the paternal allele is repressed by the UBE3A antisense transcript (UBE3A-ATS). This leaves neurons susceptible to loss-of-function of maternal UBE3A.
Dongwon Lee, Wu Chen, Heet Naresh Kaku, Xinming Zhuo, Eugene S Chao, Armand Soriano, Allen Kuncheria, Stephanie Flores, Joo Hyun Kim, Armando Rivera, Frank Rigo, Paymaan Jafar-nejad, Arthur L Beaudet, Matthew S Caudill, Mingshan Xue   +14 more
doaj   +1 more source

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, Boer, A.Th., Hennekam, R.C.M., Renier, W.O., Brouwer, O.F.   +4 more
openaire   +5 more sources