Discover Community Create You

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

Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.

Biomolecules - 14 Dec 2023

Hernandez Ciria C, Hu Ningning, Shen Wangzhen, Macdonald Robert L

Abstract excerpt

Variants in the GABRB gene, which encodes the β subunit of the GABAA receptor, have been implicated in various epileptic encephalopathies and related neurodevelopmental disorders such as Dravet syndrome and Angelman syndrome. These conditions are often associated with early-onset seizures, developmental regression, and cognitive impairments. The severity and specific features of these encephalopathies can differ...

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases
Share to Epilepsy research and treatment
Share to Ion channel regulation and function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Mutation, Missense

Share to Neuroscience and Neuropharmacology Research

Share to Receptors, GABA-A

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 38136660
DOI: 10.3390/biom13121790
PMCID: PMC10741827

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.PMID 38136660Read ↗

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

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

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

GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.Semantic proximity Read ↗

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

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

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

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.Semantic proximity Read ↗

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

Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.Semantic proximity Read ↗

Mutations in GABAA receptor subunits associated with genetic epilepsies.Semantic proximity Read ↗

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

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