Angelman Syndrome
A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry
... to Angelman Syndrome Organisations who helped to spread awareness of the registry, and to parents, families and caregivers for generously donating their time to register their child/ adult with ...
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Surgical extraction of a supernumerary tooth in a patient with Angelman syndrome - case report
... of Angelman syndrome there occurs a significant impairment of intellectual development with speech acquisition disorders and disorders in the locomotor system, such as gait ataxia, balance disorders and ...
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An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome
... Future research to explore therapeutic benefits of minocycline in AS should involve studies with a placebo-controlled crossover design to better control for practice and temporal effects. The study design also did not ...
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Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis
... Fig. 4 Delta rhythmicity is increased in children with Angelman syndrome relative to neurotypical controls during sleep. Black: neurotypical (NT), red: AS. a Occipital power spectra comparing wakefulness ...
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Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes
... Our findings underscore the critical role of UBE3A for normal brain development and suggest that most AS be- havioral phenotypes arise from the absence of UBE3A during embryonic or early postnatal development. Our ...
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Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice
... Deletions or mutations of the maternally inherited copy of the UBE3A gene cause Angelman syndrome (AS). Individuals with AS exhibit developmental delay, motor dysfunction, lack of speech, and highly ...
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Dissociation of locomotor and cerebellar deficits in a murine Angelman syndrome model
... Angelman syndrome (AS) is a severe neurological disorder that is associated with prominent movement and balance impairments that are widely considered to be due to defects of cerebellar ...
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Cannabidiol attenuates seizures and EEG abnormalities in Angelman syndrome model mice
... Deletions or mutations of the maternally inherited copy of the UBE3A gene cause Angelman syndrome (AS). Individuals with AS show developmental delay, motor dysfunction, minimal speech, highly penetrant EEG ...
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Unmet clinical needs and burden in Angelman syndrome: a review of the literature
... Background: Angelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially ...
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Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization
... Cases of Angelman syndrome resulting from familial translocations are rare (less than 1%) [3]. Due to imprint- ing, the family described in the present report is at risk for two different neurogenetic ...
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Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome
... Background: Angelman syndrome (AS) is a severe neurodevelopmental disorder lacking effective therapies. AS is caused by mutations in ubiquitin protein ligase E3A ( UBE3A ), which is genomically imprinted ...
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Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases
... 4. Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM: ...
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A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study)
... brain injuries, spinal cord injury, unipolar depression, amyotrophic lateral sclerosis [12–14] and Angelman Syndrome [15]. In Angelman Syndrome, Grieco et al. performed an open label trial in ...
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A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome
... Angelman syndrome (AS), first described by Harry Angelman in 1965, is a neurodevelopmental disorder that is characterized by severe congenital intellectual dis- abilities, ataxia, unusual facial ...
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Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons
... duplication syndrome phenotype, while the number of gene expression changes in the Angelman syndrome set remained quite ...Duplication syndrome subjects, suggesting global tran- scriptional ...
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Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study
... in Angelman syndrome are not driven by group differences in volume conduction Volume conduction of signals propagated from a com- mon source may lead to identification of spuriously coupled scalp EEG ...
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Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model
... Angelman syndrome (AS) is a severe neurodevelopmental disorder that results from loss of function of the maternal ubiquitin protein ligase E3A (UBE3A) ...
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Pathway specific dopaminergic deficits in a mouse model of Angelman syndrome
... Angelman syndrome (AS) is a neurodevelopmental disorder char- acterized by intellectual disability, profound language impair- ment, seizures, and a propensity for a happy disposition ...
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Craniofacial disorders in the course of Angelman syndrome - a review of the literature
... in Angelman syndrome is caused by hemizygocity or defects in the P gene located in the vicinity of UBE3A on chromosome 15, determining ocular- cutaneous albinism of tyrosine-positive (OCA2), as well as the ...
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Angelman syndrome: review of clinical and molecular aspects
... majority of patients, including biting, pinching, hair-pulling, and grabbing. Rarely are these behaviors intended to cause harm; they usually result from easy excitability, desire for attention, poor control over ...
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