PURPOSE The aim of this study was to investigate the natural history of epilepsy and response to anti-epileptic drug treatment in patients with Angelman syndrome (AS) in Korea. METHODS We retrospectively reviewed the clinical records of 14 patients diagnosed with epilepsy out of a total of 17 patients with a genetic diagnosis of AS. These patients were seen at the Department of Pediatric Neur...

The communication development in 11 children with Angelman's syndrome is described. The clinical observation that these children appear to have a greater ability with receptive rather than expressive language is investigated and these skills assessed using published communication schedules. In addition the understanding and the use of nonverbal communication such as natural gesture was studied....

Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, absent speech, ataxia, sociable affect, and dysmorphic facial features. Eighty five percent of patients with AS have an identifiable genetic abnormality of chromosome 15q11-13. Mutations within the X linked MECP2 gene have been identified in patients with Rett syndrome (RTT), a neurodevelopmental...

The diagnosis of Angelman syndrome (AS) is based on the clinical features, behavior, EEG findings, and genetic abnormalities. The physical, clinical and behavioral aspects appear to attributable to localized central nervous system (CNS) dysfunction of the ubiquitin ligase gene, UBE3A, located at 15q11.2. The features of AS frequently become apparent at 1-4 years of age, and the average age at d...

AGATA MALTESE1, MARGHERITA SALERNO2, GABRIELE TRIPI3,4, PALMIRA ROMANO5, ANNACLAUDIA RICCIARDI5, ANNABELLADI FOLCO1, TERESA DI FILIPPO1, LUCIA PARISI1 1Department of Psychological, Pedagogical and Educational Sciences, University of Palermo, Italy 2Sciences for Mother and Child Health Promotion, University of Palermo, Italy 3Department PROSAMI, University of Palermo, Italy 4Childhood Psychiatri...

The last 2–3 years have seen a series of exciting developments in the understanding of Angelman syndrome (AS), beginning with identification of the disease gene as a ubiquitin ligase gene (the first single-gene disorder of the ubiquitination pathway) and the demonstration of brain-specific imprinting for this gene. The imprinting center (IC) that regulates expression of genes in this region has...

Angelman syndrome (AS) is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language impairment. Most of the cases are hardly diagnosed during infancy as jerky movements, the cardinal sign, appear later in childhood. AS is caused by a ...

Angelman syndrome (AS) has emerged as an important neurogenetic syndrome due to its relatively high prevalence and easier confirmation of the diagnosis by improved genetic testing. In infancy, nonspecific clinical features of AS pose diagnostic challenges to the neurologist and these include any combination of microcephaly, seizure disorder, global developmental delay or an ataxic/hypotonic cer...

Angelman syndrome is a neurogenetic disorder characterized by developmental delay, severe intellectual disability, absent speech, exuberant behavior with happy demeanor, motor impairment, and epilepsy, due to deficient UBE3A gene expression that may be caused by various abnormalities of chromosome 15. Recent findings in animal models demonstrated altered dendritic spine formation as well as bot...

Haploinsufficiency of TCF4 causes Pitt-Hopkins syndrome (PTHS): a severe form of mental retardation with phenotypic similarities to Angelman, Mowat-Wilson and Rett syndromes. Genome-wide association studies have also found that common variants in TCF4 are associated with an increased risk of schizophrenia. Although TCF4 is transcription factor, little is known about TCF4-regulated processes in ...