Results 1 to 10 of about 9,448 (189)

Evaluation of the safety and tolerability of a nutritional Formulation in patients with ANgelman Syndrome (FANS): study protocol for a randomized controlled trial [PDF]

Trials, 2020
Background Ketogenic and low-glycemic-index diets are effective in treating drug-resistant seizures in children with Angelman syndrome. Cognition, mobility, sleep, and gastrointestinal health are intrinsically linked to seizure activity and overall ...
Donna L. Herber, Edwin J. Weeber, Dominic P. D’Agostino, Jessica Duis   +3 more
doaj   +2 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

Burden and Parental Satisfaction in Informal Caregivers of People with Angelman Syndrome: A Mix-method Study

Mediterranean Journal of Clinical Psychology, 2022
Background: Studies focusing on the burden of parents informally caring for offspring with chronic illnesses such as Angelman Syndrome are rare, despite the challenging task of parenting a person with such a disabling illness.
Teresa Ferreira, Rute Brites, Tânia Brandão, Odete Nunes, João Hipólito   +4 more
doaj   +2 more sources

Sedation with dexmedetomidine for conducting electroencephalogram in a patient with Angelman syndrome: a case report

Revista Brasileira de Anestesiologia, 2016
INTRODUCTION: Angelman syndrome is characterized by severe mental retardation and speech and seizure disorders. This rare genetic condition is associated with changes in GABAA receptor.
Magda Lourenço Fernandes, Maria do Carmo Santos, Renato Santiago Gomez   +2 more
doaj   +4 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

The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey [PDF]

Orphanet Journal of Rare Diseases
Background Angelman syndrome (AS) is a rare neurogenetic disorder characterized by persistent cognitive and functional impairments that necessitate lifelong care.
John Jarvis, Elizabeth Chertavian, Marric Buessing, Taylor Renteria, Lufei Tu, Lauren Hoffer, Ryan Fischer, Amanda Moore, Meagan Cross, Megan Tones   +9 more
doaj   +2 more sources

Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study [PDF]

Orphanet Journal of Rare Diseases
Background Angelman syndrome (AS) is a rare neurodevelopmental disease caused by imprinting disorders that impede the production of the ubiquitin E3A ligase protein (UBE3A).
Agata Suleja, Katarzyna Milska-Musa, Łukasz Przysło, Marzena Bednarczyk, Marcin Kostecki, Dominik Cysewski, Paweł Matryba, Anna Rozensztrauch, Michał Dwornik, Marcin Opacki, Robert Śmigiel, Kacper Łukasiewicz   +11 more
doaj   +2 more sources

Dietary Intake of Octanoic Acid Restores UBE3A Expression and Improves the Behavioral Phenotypes in a Mouse Model of Angelman Syndrome. [PDF]

FASEB J
Qu S, Guan X, Li H, Yang J, Sun P, Song C, Surzenko N, Wang Y.   +7 more
europepmc   +3 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

Remote EEG acquisition in Angelman syndrome using PANDABox-EEG. [PDF]

J Neurodev Disord
Gálvez-Ortega K, Harold R, Neo WS, Hoilett OS, Borosh AM, Friesen-Haarer A, Gombas S, Foti D, Kelleher B.   +8 more
europepmc   +2 more sources