Article

Accurate prediction of gain- and loss-of-function variants in GABA <sub>A</sub> receptors

2025-12-04

Abstract excerpt

GABA A receptors are critical for inhibitory neurotransmission. Variants in genes encoding these receptors are involved in the pathophysiology of both common and rare epilepsy syndromes. Variant effects on channel biophysical function, broadly classified as gain-of-function (GOF) or loss-of-function (LOF), are associated with key clinical characteristics and treatment response. Understanding and predicting varian...

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Literature Corpus work: 9fb01d1d-8647-5358-b81c-f4f2d829bdf7
DOI: 10.64898/2025.12.03.25341551

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