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Title
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Angelman Syndrome
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ImagePath
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System
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genomic imprinting disorder
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Overview
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Loss of maternally expressed UBE3A gene on chromosome 15q11‑q13.
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Pathophysiology
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70 % maternal deletion; 5 % paternal uniparental disomy; rest imprinting center/UBE3A mutations → loss of ubiquitin ligase in brain.
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Presentation
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Severe intellectual disability, seizures, ataxic gait, inappropriate laughter (‘happy puppet’), microcephaly.
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Diagnosis
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Methylation PCR/FISH; EEG high‑amplitude slow‑spike waves.
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Management
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Seizure control, PT/OT, communication therapy.
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Epidemiology
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≈ 1 : 20 000 births.
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Tags
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