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Article

Angelman syndrome: a review of clinical and genetic aspects.

Clinical neurology and neurosurgery - 1 Sept 1999

Laan L A, v Haeringen A, Brouwer O F

Abstract excerpt

This paper reviews Angelman syndrome (AS) with regard to the clinical features in childhood and adulthood, epileptic seizures and EEG findings, neuroimaging studies and the present knowledge on the genetic mechanisms underlying this syndrome. Different clinical phenotypes and genotypes of AS are described, including chromosome 15q11-13 deletion, uniparental disomy, methylation imprinting abnormalities and...

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Identifiers

PMID: 10536901
DOI: 10.1016/s0303-8467(99)00030-x

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Source receipt: pubmed, retrieved 7 Sept 2026.

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