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Article

Abnormal electrophysiological phenotypes and sleep deficits in a mouse model of Angelman Syndrome.

Molecular autism - 6 Feb 2021

Copping N A, Silverman J L

Abstract excerpt

BACKGROUND: Angelman Syndrome (AS) is a rare genetic disorder characterized by impaired communication, motor and balance deficits, intellectual disabilities, recurring seizures and abnormal sleep patterns. The genetic cause of AS is neuronal-specific loss of expression of UBE3A (ubiquitin-protein ligase E6-AP), an imprinted gene. Seizure and sleep disorders are highly prevalent (> 80%) in the AS population. The...

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Source

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Identifiers

PMID: 33549123
DOI: 10.1186/s13229-021-00416-y
PMCID: PMC7866697

Genes

UBE3A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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