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Angelman Syndrome: Consensus for Diagnostic Criteria
American Journal of Medical Genetics, Part A, 1995 The Scientific and Research Advisory Committee of the Angelman Syndrome Foundation recently solicited input from scientists involved in the study of Angelman syndrome to establish consensus about the clinical pro- file and diagnostic criteria of Angelman
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Epilepsy in Angelman’s Syndrome
Neuroscience and Behavioral Physiology, 2022Angelman's syndrome (AS) is accompanied by specific changes in the EEG and genetically determined epilepsy. To analyze the neurological status, changes on EEG, MRI, the course of epilepsy in patients with Angelman syndrome (observed at the Svt. uca`s Institute of Child Neurology and Epilepsy).47 patients with a genetically verified diagnosis of AS ...
M.Yu. Bobylova +4 more
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Current Problems in Pediatrics, 1995
The Angelman syndrome is a neurological disorder characterized by constant features: severe mental retardation, easily provoked laughter, ataxia, absent speech, seizures. Most cases are sporadic but familial cases have been reported. About 60 to 70% of cases are due to an interstitial deletion on the maternally inherited chromosome 15 in the region q11-
C A, Williams +6 more
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The Angelman syndrome is a neurological disorder characterized by constant features: severe mental retardation, easily provoked laughter, ataxia, absent speech, seizures. Most cases are sporadic but familial cases have been reported. About 60 to 70% of cases are due to an interstitial deletion on the maternally inherited chromosome 15 in the region q11-
C A, Williams +6 more
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Myoclonus in Angelman syndrome
Epilepsy & Behavior, 2018Angelman 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 ...
Sarah F, Pollack +4 more
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Anaesthesia for Angelman syndrome
Anaesthesia, 2008Summary We describe the administration of anaesthesia to a patient with Angelman syndrome, which is characterised by an abnormality of chromosome 15, where a subunit of the GABA receptor is coded. This has far‐reaching anaesthetic implications as many drugs used in anaesthesia are thought to act via GABA receptors.
K. R. Ramanathan +2 more
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Hypopigmentation in Angelman syndrome
American Journal of Medical Genetics, 1993AbstractChromosome region 15q is thought to contain one or more genes that are important for melanin pigment synthesis in the hair, skin, and eyes. Hypopigmentation has been identified in the Prader‐Willi (PWS) and Angelman (AS) syndromes. We have examined 6 individuals with AS to further characterize the pigment pattern in this condition.
R A, King +3 more
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The Neurologist, 2007
Angelman syndrome (AS) is characterized by severe mental retardation, epilepsy, absent speech, dysmorphic facial features, and a characteristic behavioral phenotype. It is caused by deficiency of gene expression from maternally derived chromosome 15q11-q13.The authors present the clinical picture of 9 children (median age, 4.9 years; range, 1 to 10 ...
Justyna, Paprocka +5 more
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Angelman syndrome (AS) is characterized by severe mental retardation, epilepsy, absent speech, dysmorphic facial features, and a characteristic behavioral phenotype. It is caused by deficiency of gene expression from maternally derived chromosome 15q11-q13.The authors present the clinical picture of 9 children (median age, 4.9 years; range, 1 to 10 ...
Justyna, Paprocka +5 more
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Angelman's Syndrome in Infancy
Developmental Medicine & Child Neurology, 1990SUMMARYThe authors report an 11‐month‐old patient with the clinical features of Angelman Syndrome and a 15q11‐2–12 chromosomal deletion, thus demonstrating that the clinical features may be present in infancy and so allow early diagnosis. The features included pronounced postnatal growth failure, delayed dentition and ossification of growth centers ...
K A, Yamada, J J, Volpe
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If not Angelman, what is it? a review of Angelman‐like syndromes
American Journal of Medical Genetics Part A, 2014AbstractAngelman syndrome (AS) is caused by a lack of expression of the maternally inherited UBE3A gene in the brain. However, about 10% of individuals with a clinical diagnosis of AS do not have an identifiable molecular defect. It is likely that most of those individuals have an AS‐like syndrome that is clinically and molecularly distinct from AS ...
Wen-Hann, Tan +3 more
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