Results 161 to 170 of about 1,142,913 (203)

Angelman syndrome

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, R T, Zori, J, Hendrickson, H, Stalker, T, Marum, E, Whidden, D J, Driscoll   +6 more
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The behavioural phenotype of Angelman syndrome [PDF]

Journal of Intellectual Disability Research, 2006
BACKGROUND: The purpose of this review is to examine the notion of a behavioural phenotype for Angelman syndrome and identify methodological and conceptual influences on the accepted presentation.
Christopher Oliver
exaly   +3 more sources

Anaesthesia for Angelman syndrome

Anaesthesia, 2008
Summary 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, D. Muthiswamy, B. J. Jenkins   +2 more
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Myoclonus in Angelman syndrome

Epilepsy & Behavior, 2018
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 ...
Sarah F, Pollack, Olivia R, Grocott, Kimberly A, Parkin, Anna M, Larson, Ronald L, Thibert   +4 more
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Hypopigmentation in Angelman syndrome

American Journal of Medical Genetics, 1993
AbstractChromosome 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, G L, Wiesner, D, Townsend, J G, White   +3 more
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Angelman Syndrome Revisited

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, Ewa, Jamroz, Barbara, Szwed-Białozyt, Aleksandra, Jezela-Stanek, Ilona, Kopyta, Elzbieta, Marszał   +5 more
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Angelman's Syndrome in Infancy

Developmental Medicine & Child Neurology, 1990
SUMMARYThe 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, 2014
AbstractAngelman 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, Lynne M, Bird, Ronald L, Thibert, Charles A, Williams   +3 more
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Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non‐specific intellectual disability and Autism spectrum disorder [PDF]

Journal of Intellectual Disability Research, 2008
Background Little is known about behavioural flexibility in children and adults with Angelman syndrome and whether people with this syndrome have more or less problems in being behaviourally flexible as compared with other people.
Vanessa Green, Giulio Lancioni
exaly   +2 more sources

Prader–Willi syndrome and Angelman syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010
AbstractPrader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the proximal long arm of chromosome 15 are affected. Although the SNORD116 gene cluster has become a prime candidate for PWS, it cannot be excluded that other paternally expressed genes in the chromosomal region 15q11q13 ...
openaire   +2 more sources