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Article

Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.

Brain : a journal of neurology - 4 Jan 2024

Lin Susan X N, Ahring Philip K, Keramidas Angelo, Liao Vivian W Y, Møller Rikke S, Chebib Mary, Absalom Nathan L

Abstract excerpt

Genetic variants associated with developmental and epileptic encephalopathies have been identified in the GABRB3 gene that encodes the β3 subunit of GABAA receptors. Typically, variants alter receptor sensitivity to GABA resulting in either gain- or loss-of-function, which correlates with patient phenotypes. However, it is unclear how another important receptor property, desensitization, contributes to the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37647766
DOI: 10.1093/brain/awad285
PMCID: PMC10766243

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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