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- W2040563768 abstract "Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or mutation of the maternally inherited 15q11.2-13.1 region, paternal uniparental disomy of chromosome 15, or an imprinting error. Epilepsy is common and may present with multiple seizure types, including nonconvulsive status epilepticus. Seizures are often intractable and typically require broad-spectrum antiepileptic medications. Dietary therapy has also proved successful in Angelman syndrome. Electroencephalographic patterns include notched δ and rhythmic θ activity and epileptiform discharges. Sleep disorders are also common, often characterized by abnormal sleep-wake cycles. Movement disorders are nearly universal in Angelman syndrome, most frequently presenting with ataxia and tremor. Neurocognitive impairment is always present to varying degrees, and expressive speech is typically severely affected. Individuals with Angelman syndrome often manifest psychiatric comorbidities including hyperactivity, anxiety, and challenging behaviors such as aggression and self-injury. We focus on a comprehensive whole-child approach to the diagnosis and long-term clinical care of individuals with Angelman syndrome." @default.
- W2040563768 created "2016-06-24" @default.
- W2040563768 creator A5033806545 @default.
- W2040563768 creator A5053491507 @default.
- W2040563768 creator A5056125817 @default.
- W2040563768 creator A5059514400 @default.
- W2040563768 creator A5071907476 @default.
- W2040563768 date "2013-04-01" @default.
- W2040563768 modified "2023-09-29" @default.
- W2040563768 title "Neurologic Manifestations of Angelman Syndrome" @default.
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- W2040563768 doi "https://doi.org/10.1016/j.pediatrneurol.2012.09.015" @default.
- W2040563768 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23498559" @default.
- W2040563768 hasPublicationYear "2013" @default.
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