Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes
نویسندگان
چکیده
منابع مشابه
The behavioural phenotype of Angelman syndrome.
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. METHODS Studies examining the behavioural characteristics associated with Angelman syndrome are reviewed and methodology is described. RESULTS Potential bias in the description of the phenotype eme...
متن کاملAngelman syndrome: evolution of the phenotype in adolescents and adults.
Individuals with Angelman syndrome (AS) have severe learning disability,* ataxia, seizures, dysmorphic facies, a happy, sociable disposition, and inability to speak. Most of the literature concerning the clinical features of AS has concentrated on younger children. This study aimed to look at the natural history of AS by documenting the clinical features in a group of 28 adolescents and adults ...
متن کاملSevere phenotype in Angelman syndrome resulting from paternal isochromosome 15.
Angelman syndrome (AS) is a neurogenetic disorder with an occurrence of approximately 1/20 000 live births. Characteristic features include severe mental retardation, absence of speech, seizures, abnormal EEG, hyperactivity, happy disposition with unmotivated laughter, ataxia of gait, and physical anomalies such as microbrachycephaly, macrostomia, protruding tongue, and widely spaced teeth. The...
متن کاملAngelman syndrome.
Angelman syndrome is a disorder in humans [2] that causes neurological symptoms such as lack of speech, jerky movements, and insomnia. A human cell has two copies of twenty-three chromosomes for a total of forty-six?one copy from its mother and one from its father. But in the case of Angelman syndrome, the maternal chromosome numbered 15 has a mutation or deletion in its DNA and a gene on the p...
متن کامل[Angelman syndrome].
An eight-year-old boy with Angelman-(Happy Puppet-)Syndrome is described. Nearly all typical symptoms of the syndrome, especially severe psychomotoric retardation with spontaneous outbursts of laughing and protrusions of the tongue, athetoid movements, typical electroencephalogram and microcephaly, could be found in our patient. The incidence of the Angelman-syndrome may be underestimated.
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ژورنال
عنوان ژورنال: Biological Psychiatry
سال: 2019
ISSN: 0006-3223
DOI: 10.1016/j.biopsych.2019.01.008