UPV/EHU researchers account for the complex symptoms of Angelman syndrome

(University of the Basque Country) A research group at the Faculty of Science and Technology of the UPV/EHU-University of the Basque Country has managed to reliably identify the changes in the proteins altered by the UBE3A enzyme, responsible for Angelman syndrome. This disease causes problems in intellectual and motor development, epilepsy, difficulties in communication, and very few hours of sleep. Funding provided by the Angelman Syndrome Association has been a key factor in being able to complete the research.
Source: EurekAlert! - Biology - Category: Biology Source Type: news

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This article also addresses the neuropharmacological potential of taurine analogs.Graphical abstract
Source: Redox Biology - Category: Biology Source Type: research
Conclusion The findings of this study suggest that buspirone may be effective for the amelioration of behaviors related to anxiety in patients with AS, and well tolerated. Limitations include the open-label nature of these treatments, the small sample size and the absence of a control group.
Source: Psychiatric Genetics - Category: Genetics & Stem Cells Tags: ORIGINAL ARTICLES Source Type: research
ConclusionsWe demonstrate two quantitative readouts of dysregulated sleep composition in children with AS —gamma coherence and spindles—and describe how functional connectivity patterns may be disrupted during wakefulness. Quantitative EEG phenotypes have potential as biomarkers and readouts of target engagement for future clinical trials and provide clues into how neural circuits are dysregulated i n children with AS.
Source: Molecular Autism - Category: Molecular Biology Source Type: research
Publication date: Available online 17 March 2018 Source:Epilepsy & Behavior Author(s): Sarah F. Pollack, Olivia R. Grocott, Kimberly A. Parkin, Anna M. Larson, Ronald L. Thibert Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Myoclonic seizures are often the first seizure type to appear, and myoclonic status, associated with developmental regression, may occur in the first few years of life. Additionally, there have been rare reports of p...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Abstract Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Myoclonic seizures are often the first seizure type to appear, and myoclonic status, associated with developmental regression, may occur in the first few years of life. Additionally, there have been rare reports of prolonged episodes of myoclonus without electrographic correlate in adults with AS. The medical records of 200 individuals seen in the Angelman Syndrome Clinic at the...
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
Authors: Paprocka J, Kijonka M, Wojcieszek P, Pęcka M, Emich-Widera E, Sokół M Abstract The main aim of the study was to compare the melatonin rhythms in subjects with Angelman syndrome (n = 9) and in children with (n = 80) and without (n = 40) epilepsy (nonepileptic patients diagnosed with peripheral nerve palsies, myopathy, and back pain) using our mathematical model of melatonin circadian secretion. The characteristics describing the diurnal hormone secretion such as minimum melatonin concentration, release amplitude, phase shift of melatonin release, and sleep duration as well as the dim light melatoni...
Source: International Journal of Endocrinology - Category: Endocrinology Tags: Int J Endocrinol Source Type: research
Conclusion Improvement of epilepsy or sleep disorders should not disregard the clinical suspicion of AS in adolescent or adult patients with suggestive features. Drug withdrawal might be considered in the management of epilepsy despite the persistence of epileptiform abnormalities. Graphical abstract
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
CONCLUSION: Improvement of epilepsy or sleep disorders should not disregard the clinical suspicion of AS in adolescent or adult patients with suggestive features. Drug withdrawal might be considered in the management of epilepsy despite the persistence of epileptiform abnormalities. PMID: 28827041 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, expressive speech impairment, movement disorder, epilepsy, and a happy demeanor. Children with AS are frequently reported to be poor feeders during infancy and as having gastrointestinal issues such as constipation, reflux, and abnormal food related behaviors throughout their lifetime. To assess the prevalence of gastrointestinal disorders in individuals with AS, we retrospectively analyzed medical records of 120 individuals seen at the Angelman Syndrome Clinic at Massachusetts General Hospital and 43 individuals seen at the Univers...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
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. There is cu...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Letter to the Editor Source Type: research
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