Results 11 to 20 of about 1,536,733 (206)
Angelman Syndrome: Molecular Cytogenetic Studies
Pediatric Neurology Briefs, 1997 Clinical, neurological, and molecular genetic studies of 22 patients with diagnostic features of Angelman syndrome (AS) are reported from National Taiwan University Hospital, Taipei.
J Gordon Millichap
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Neurologic and EEG Findings in Angelman Syndrome
Pediatric Neurology Briefs, 2005 The neurological and diagnostic aspects of Angelman syndrome (AS) are reviewed by a geneticist at the University of Florida, Gainesville, FL.
J Gordon Millichap
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Vigabatrin-Induced Seizures in Angelman Syndrome
Pediatric Neurology Briefs, 1998 Four children with Angelman syndrome (AS) showed worsening of seizures after introduction of vigabatrin (VGB), at the University Children’s Hospital, Zurich, Switzerland.
J Gordon Millichap
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UBE3A stabilization of β-catenin preserves synaptic proteins essential for motor and cognitive functions in Angelman Syndrome [PDF]
Molecular AutismBackground Ubiquitin protein ligase E3A (UBE3A) regulates signaling pathways associated with autism spectrum disorders (ASDs). As an E3 ligase, UBE3A ubiquitinates and promotes the degradation of proteins crucial for regulating synaptic plasticity and ...
Xin Yang +2 more
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Revista Información Científica, 2022 Introduction: Angelman Syndrome is a rare inherited neurodevelopmental disorder that affects 1 in 10,000 to 24,000 newborns. This condition includes developmental desability, intellectual disability, severe speech disability, movement and balance ...
Daniela Abigail Cobo-Álvarez +2 more
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Behavior and neuropsychiatric manifestations in Angelman syndrome
Neuropsychiatric Disease and Treatment, 2008 Karine Pelc1, Guy Cheron2, Bernard Dan1,21Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium; 2Laboratory of Neurophysiology and Movement Biomechanics ...
Karine Pelc, Guy Cheron, Bernard Dan
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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
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Anxiety in Angelman Syndrome [PDF]
American Journal on Intellectual and Developmental Disabilities, 2022 Abstract Angelman Syndrome (AS) is a neurodevelopmental disorder most commonly caused by the impaired expression of the maternal UBE3A gene on chromosome 15. Though anxiety has been identified as a frequently present characteristic in AS, there are limited studies examining anxiety in this population.
Grebe, Stacey +13 more
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Angelman syndrome can result from uniparental paternal isodisomy
, 1990 Angelman syndrome can result from uniparental paternal ...
Alec J. Jeffreys (7579385) +7 more
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eLife, 2023 UBE3A encodes ubiquitin protein ligase E3A, and in neurons its expression from the paternal allele is repressed by the UBE3A antisense transcript (UBE3A-ATS). This leaves neurons susceptible to loss-of-function of maternal UBE3A.
Dongwon Lee +14 more
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