Back to search

Article

The human GABA <sub>A</sub> receptor α4 subunit variant Ile114Asn linked to epilepsy impairs membrane expression with β3 and δ subunits

2026-04-25

Abstract excerpt

GABA A receptors mediate fast inhibitory neurotransmission in the brain, and variants in their subunits are linked to neurological disorders like epilepsy. For many identified variants, it remains to be determined whether the variant is pathogenic. Here, we functionally characterized the α4 subunit variant p.I114N (p.I79N in the mature protein), found in an individual with epilepsy, using patch-clamp electrophysi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
0fbaa4a9-641c-5b67-b918-cafd74021f60
DOI
10.64898/2026.04.22.720185
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
The human GABA <sub>A</sub> receptor α4 subunit variant Ile114Asn linked to epilepsy impairs membrane expression with β3 and δ subunitsDOI 10.64898/2026.04.22.720185
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.Semantic proximity
A mutation in the GABAA receptor alpha 1 subunit linked to human epilepsy affects channel gating properties.Semantic proximity
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.Semantic proximity
Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.Semantic proximity
Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.Semantic proximity
Missense variants in GABA <sub>A</sub> receptor beta2 subunit disrupt receptor biogenesis and cause loss of functionSemantic proximity
Accurate prediction of gain- and loss-of-function variants in GABA <sub>A</sub> receptorsSemantic proximity
Pharmacological chaperones restore proteostasis of epilepsy-associated GABA <sub>A</sub> receptor variantsSemantic proximity
Discrete M3-M4 intracellular loop subdomains control specific aspects of γ-aminobutyric acid type A receptor function.Semantic proximity
GABA(A) Receptor Subunit (γ2, δ, β1-3) Variants in Genetic Epilepsy: A Comprehensive Summary of 206 Clinical Cases.Semantic proximity
Understanding paralogous epilepsy–associated GABA A receptor variants: Clinical implications, mechanisms, and potential pitfallsSemantic proximity
De novo CLPTM1 variants with reduced GABAA R current response in patients with epilepsy.Semantic proximity
Select a neighboring publication to make it the new centre.