engleski

Atypical clinical presentation in a girl with Angelman syndrome

We descrabe a 10.5 year-old girl with AS. The normal growth parameters, lacks of seizures or gait ataxia do not exclude the possibility of AS in mentally retarde children with a happy disposition. EEG should be done in every child with cryptogenic psychomotor retardation because the characteristic EEG pattern appears early and is specific to As.

Angelman syndrome; uniparental disomy; mental retardation

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