Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Understanding paralogous epilepsy–associated GABA A receptor variants: Clinical implications, mechanisms, and potential pitfalls

6 Dec 2024

Abstract excerpt

Recent discoveries have revealed that genetic variants in γ-aminobutyric acid type A (GABA A ) receptor subunits can lead to both gain-of-function (GOF) and loss-of-function (LOF) receptors. GABA A receptors, however, have a pseudosymmetrical pentameric assembly, and curiously diverse functional outcomes have been reported for certain homologous variants in paralogous genes (paralogous variants). To investigate...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epilepsy research and treatment
Share to Ion channel regulation and function
Share to Neuroscience and Neuropharmacology Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39642202
DOI: 10.1073/pnas.2413011121

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Understanding paralogous epilepsy–associated GABA A receptor variants: Clinical implications, mechanisms, and potential pitfallsPMID 39642202Read ↗

Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.Semantic proximity Read ↗

Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.Semantic proximity Read ↗

The genetic and phenotypic spectrum of GABRB1-related disorders.Semantic proximity Read ↗

Epileptic encephalopathy de novo<i>GABRB</i>mutations impair γ‐aminobutyric acid type A receptor functionSemantic proximity Read ↗

Accurate prediction of gain- and loss-of-function variants in GABA <sub>A</sub> receptorsSemantic proximity Read ↗

Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.Semantic proximity Read ↗

Missense variants in GABA <sub>A</sub> receptor beta2 subunit disrupt receptor biogenesis and cause loss of functionSemantic proximity Read ↗

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.Semantic proximity Read ↗

De novo GABRA1 variants in childhood epilepsies and the molecular subregional effectsSemantic proximity Read ↗

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.Semantic proximity Read ↗

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.Semantic proximity Read ↗

De novo GABRG2 mutations associated with epileptic encephalopathies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.