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Article

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.

Epilepsia - 1 Apr 2022

Vogel Florian D, Krenn Martin, Westphal Dominik S, Graf Elisabeth, Wagner Matias, Leiz Steffen, Koniuszewski Filip, Augé-Stock Maximilian, Kramer Georg, Scholze Petra, Ernst Margot

Abstract excerpt

Variants in γ-aminobutyric acid A (GABAA ) receptor genes cause different forms of epilepsy and neurodevelopmental disorders. To date, GABRA4, encoding the α4-subunit, has not been associated with a monogenic condition. However, preclinical evidence points toward seizure susceptibility. Here, we report a de novo missense variant in GABRA4 (c.899C>T, p.Thr300Ile) in an individual with early-onset drug-resistant...

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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: 35152403
DOI: 10.1111/epi.17188
PMCID: PMC9304230

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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