Results 11 to 20 of about 9,448 (189)
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
+8 more sources
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
openaire +5 more sources
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
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
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
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
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
Angelman Syndrome. Part 2 (Clinical Picture and Diagnosis)
Zdorovʹe Rebenka, 2015 The article presents the main clinical manifestations of Angelman syndrome. The article contains current data about the features of the physical, intellectual, verbal and sexual development of patients with Angelman syndrome.
O.Ye. Abaturov +2 more
doaj +1 more source