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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
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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 +2 more
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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
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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
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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
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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
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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
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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
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Neurosciences (Riyadh, Saudi Arabia), 2013 Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy.
Fatima N, Mahmood +2 more
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Journal of Neurodevelopmental Disorders, 2017 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 rigorously quantified in the clinical population or validated in a ...
Michael S. Sidorov +6 more
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