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Article

Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome.

Journal of child neurology - 1 Jan 2003

Borgatti Renato, Piccinelli Paulo, Passoni Davide, Romeo Antonino, Viri Maurizio, Musumeci Sebastiano A, Elia Maurizio, Cogliati Tiziana, Valseriati Daniela, Grasso Rita, Raggi Maria E, Ferrarese Carlo

Abstract excerpt

It has recently been demonstrated that patients with Angelman's syndrome who exhibited a deletion on cytogenetic tests show more severe clinical pictures with drug-resistant epilepsy than patients with Angelman's syndrome not carrying the deletion. To verify if this difference in clinical severity can be attributed to genes for the three gamma-aminobutyric acid (GABA)A receptor subunits (GABRB3, GABRA5, GABRG3)...

Read the complete abstract on PubMed

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Share to Angelman Syndrome
Share to Chromosome Banding

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Epilepsies, Partial

Share to Epilepsy, Generalized

Share to gamma-Aminobutyric Acid

Share to Predictive Value of Tests

Share to Receptors, GABA-A

Source

Identifiers

PMID: 12661934
DOI: 10.1177/08830738030180010801

Genes

GABRA5
GABRB3
GABRG3

Provenance

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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