Epilepsy in patients with Angelman syndrome
نویسندگان
چکیده
منابع مشابه
Epilepsy in Korean patients with Angelman syndrome
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...
متن کاملEpilepsy in patients with Angelman syndrome
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 ...
متن کاملEpilepsy in Angelman syndrome
Angelman syndrome is a neurogenetic disorder caused by lack of UBE3A gene expression from the maternally inherited chromosome 15 due to various 15q11-q13 abnormalities. In addition to severe developmental delay, virtual absence of speech, motor impairment, a behavioural phenotype that includes happy demeanor, and distinctive rhythmic electroencephalographic features, over 90% of patients have e...
متن کاملAnalysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome.
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...
متن کاملEpilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13.
BACKGROUND Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, speech disorder, stereotyped jerky movements, and a peculiar behavioral profile, with a happy disposition and outbursts of laughter. Most patients with AS present with epilepsy and suggestive electroencephalographic patterns, which may be used as diagnostic criteria. OBJECTIVE To study epi...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2010
ISSN: 1824-7288
DOI: 10.1186/1824-7288-36-31