Results 1 to 10 of about 11,567 (249)
Stem Cell Research, 2022 Angelman Syndrome is a rare neurodevelopmental disorder caused by several (epi)genetic alterations. The patients present strong neurological impairment due to the absence of a functional maternal UBE3A gene in neurons.
Carina Maranga +7 more
doaj +1 more source
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
openaire +5 more sources
Age of diagnosis for children with chromosome 15q syndromes
Journal of Neurodevelopmental Disorders, 2023 Objective The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome ...
Anne C. Wheeler +6 more
doaj +1 more source
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
openaire +3 more sources
Frontiers in Genetics, 2021 Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders which are etiologically heterogeneous. Chromosomal microarray is now recommended as the first-tier clinical diagnostic test for ASD.
Areerat Hnoonual +5 more
doaj +1 more source
Angelman syndrome: review of clinical and molecular aspects [PDF]
, 2014 Lynne M Bird1Department of Pediatrics, University of California, Division of Genetics, Rady Children’s Hospital, San Diego, California, USAAbstract: “Angelman syndrome” (AS) is a neurodevelopmental disorder whose main features are ...
Bird, Lynne M, Bird, Lynne M,, Bird LM
core +1 more source
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry
Orphanet Journal of Rare Diseases, 2017 Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition.
Kathryn R. Napier +6 more
doaj +1 more source
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
openaire +2 more sources
Children, 2023 Previous patient-centered concept models of Angelman syndrome (AS) are integral in developing our understanding of the symptoms and impact of this condition with a holistic perspective and have highlighted the importance of motor function.
Miranda Rogers +9 more
doaj +1 more source
Remote EEG acquisition in Angelman syndrome using PANDABox-EEG. [PDF]
J Neurodev DisordGálvez-Ortega K +8 more
europepmc +3 more sources