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.

Angelman syndrome is a genetic disorder caused by defects in the maternally inherited imprinted domain located on chromosome 15q11-q13. Most patients with Angelman syndrome present with severe mental retardation, characteristic physical appearance, behavioral traits, and severe, early-onset epilepsy. We retrospectively reviewed the medical histories of 37 patients, all with the molecular diagno...

Many proteins associated with the phenotype microcephaly have been localized to the centrosome or linked to it functionally. All the seven autosomal recessive primary microcephaly (MCPH) proteins localize at the centrosome. Microcephalic osteodysplastic primordial dwarfism type II protein PCNT and Seckel syndrome (also characterized by severe microcephaly) protein ATR are also centrosomal prote...

Sleep disorder is one of the prominent manifestations Angelman syndrome. The exact causes are unknown and methods correction difficult. literature review devoted to studies pathogenesis sleep disorders in syndrome (the effects gene function 15q11–q13 deletion, findings polysomnography, video-EEG monitoring, laboratory data), on basis which recommendations for dyssomnia, including behavioral the...

DNA mapping studies in two families provide further information on the Angelman syndrome critical region, which has recently been defined by the gene UBE3A. The first family has probable familial Angelman syndrome with a maternally imprinted inheritance pattern. A 5 year old girl with this disorder has a 14 year old brother and an 11 year old male cousin who have less typical clinical features....

Angelman syndrome is a neurodevelopmental disorder caused by mutations in the maternally inherited UBE3A gene, which encodes a ubiquitin ligase. Greer et al. (2010) now identify a UBE3A substrate called Arc that promotes endocytosis of neuronal AMPA receptors, providing insight into synaptic defects that may underlie the cognitive deficits in Angelman syndrome.

Two intellectually disabled adults with Angelman Syndrome are reported who developed intermittent episodes of a severe resting tremor, cogwheel rigidity and bradykinesia in their late teens. The Parkinsonism was not due to medications and there was a dramatic improvement with levodopa therapy. The association between Angelman Syndrome and Parkinsonism has not previously been described.

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...

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...

We report a 9-year-old boy with history of Angelman syndrome (AS) associated epilepsy, behavioral issues, intellectual disability, and sleep disturbance. Genetic testing revealed methylation imprinting defect, thereby confirming the diagnosis AS. His seizures were well-controlled on monotherapy clobazam he underwent routine EEG (figure), which showed notched delta pattern.