Results 21 to 30 of about 9,448 (189)
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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Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation. [PDF]
PLoS ONE, 2011 Many proteins associated with the phenotype microcephaly have been localized to the centrosome or linked to it functionally. All the seven autosomal recessive primary microcephaly (MCPH) proteins localize at the centrosome.
Pooja Singhmar, Arun Kumar
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Sleep disorder in Angelman syndrome: causes, mechanisms and methods of correction. Literature review
Русский журнал детской неврологии, 2022 Sleep disorder is one of the prominent manifestations of Angelman syndrome. The exact causes are unknown and methods of correction are difficult. The literature review is devoted to studies of the pathogenesis of sleep disorders in Angelman syndrome (the
A. A. Psyanchin +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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Stem Cell Research, 2022 Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression or function defects of the UBE3A gene in the maternal chromosome region 15q11-13.
Shasha Li +3 more
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SAGE Open Medicine, 2019 Prader–Willi and Angelman syndromes are often referred to as a sister pair of neurodevelopmental disorders, resulting from different genetic and epigenetic alterations to the same chromosomal region, 15q11-q13.
Iiro Ilmari Salminen +2 more
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Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases
Case Reports in Genetics, 2016 Epigenetic abnormalities in 15q11-13 imprinted region and UBE3A mutation are the two major mechanisms for molecularly confirmed Angelman Syndrome. However, there is 10% of clinically diagnosed Angelman Syndrome remaining test negative.
Ho-Ming Luk
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Uncovering a Role for SK2 in Angelman Syndrome
Cell Reports, 2015 Angelman syndrome is a severe neurodevelopmental disorder caused by mutations in UBE3A. Sun et al. (2015) report SK2 as a UBE3A substrate and provide insight into the molecular mechanisms that might underlie impaired neuronal function in individuals ...
Sofia B. Lizarraga, Eric M. Morrow
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Stem Cell Research, 2019 Angelman syndrome is a rare neurodevelopmental disorder caused by the loss of function of the maternally expressed E3 ubiquitin ligase UBE3A. We established human induced pluripotent stem cells (iPSCs) from an Angelman syndrome patient with the deletion ...
Takeshi Niki +4 more
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Angelman Syndrome. Part 3 (Differential Diagnosis and Treatment)
Zdorovʹe Rebenka, 2015 The article discusses the problem of differential diagnosis and treatment of patients with Angelman syndrome (AS). It provides the most common syndromes with similar to AS phenotypes, the main differences between AS-like syndromes, indicating the ...
O.Ye. Abaturov +2 more
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