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Article

Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors.

Human molecular genetics - 15 Jul 2008

Heck Detlef H, Zhao Yu, Roy Snigdha, LeDoux Mark S, Reiter Lawrence T

Abstract excerpt

Angelman syndrome (AS) is a childhood-onset neurogenetic disorder characterized by functionally severe developmental delay with mental retardation, deficits in expressive language, ataxia, appendicular action tremors and unique behaviors such as inappropriate laughter and stimulus-sensitive hyperexcitibility. Most cases of AS are caused by mutations which disrupt expression of maternal UBE3A. Although some...

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Identifiers

PMID: 18413322
DOI: 10.1093/hmg/ddn117
PMCID: PMC2902285

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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