Angelman syndrome: review of clinical and molecular aspects
نویسندگان
چکیده
منابع مشابه
Angelman syndrome: review of clinical and molecular aspects
"Angelman syndrome" (AS) is a neurodevelopmental disorder whose main features are intellectual disability, lack of speech, seizures, and a characteristic behavioral profile. The behavioral features of AS include a happy demeanor, easily provoked laughter, short attention span, hypermotoric behavior, mouthing of objects, sleep disturbance, and an affinity for water. Microcephaly and subtle dysmo...
متن کاملMolecular and Clinical Aspects of Angelman Syndrome.
The Angelman syndrome is caused by disruption of the UBE3A gene and is clinically delineated by the combination of severe mental disability, seizures, absent speech, hypermotoric and ataxic movements, and certain remarkable behaviors. Those with the syndrome have a predisposition toward apparent happiness and paroxysms of laughter, and this finding helps distinguish Angelman syndrome from other...
متن کاملAngelman syndrome: a review of clinical and genetic aspects.
This paper reviews Angelman syndrome (AS) with regard to the clinical features in childhood and adulthood, epileptic seizures and EEG findings, neuroimaging studies and the present knowledge on the genetic mechanisms underlying this syndrome. Different clinical phenotypes and genotypes of AS are described, including chromosome 15q11-13 deletion, uniparental disomy, methylation imprinting abnorm...
متن کاملAngelman syndrome: a review of the clinical and genetic aspects.
Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a happy, sociable disposition. Most children present with delay in developmental milestones and slowing of head growth during the first year of life. In the majority of cases speech does not develop. P...
متن کاملClinical, Molecular, and Neurophysiological Features in Angelman Syndrome
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay, speech impairment, ataxic movement, epilepsy, and characteristic behavior, including inappropriate laughter.1 The prevalence of AS is approximately 1 in 15,000 births, making AS one of the relatively common genetic epilepsy syndromes. Epilepsy is one of the main features of AS, and electroenceph...
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ژورنال
عنوان ژورنال: The Application of Clinical Genetics
سال: 2014
ISSN: 1178-704X
DOI: 10.2147/tacg.s57386