Article

<i>GABRA1</i> frameshift variants impair GABA <sub>A</sub> receptor proteostasis

2024-11-29

Abstract excerpt

The gamma-aminobutyric acid type A receptor (GABA A R) is the most common inhibitory neurotransmitter-gated ion channel in the central nervous system. Pathogenic variants in genes encoding GABA A R subunits can cause receptor dysfunction and lead to genetic epilepsy. Frameshift variants in these genes can result in a premature termination codon, producing truncated receptor subunit variants. However, the pathoge...

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Literature Corpus work: a4c1d2fc-47f8-5142-8feb-9390c7ac5da0
DOI: 10.1101/2024.11.28.625971

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