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

Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Feb 2006

Feng Hua-Jun, Kang Jing-Qiong, Song Luyan, Dibbens Leanne, Mulley John, Macdonald Robert L

Abstract excerpt

Most human idiopathic generalized epilepsies (IGEs) are polygenic, but virtually nothing is known of the molecular basis for any of the complex epilepsies. Recently, two GABAA receptor delta subunit variants (E177A, R220H) were proposed as susceptibility alleles for generalized epilepsy with febrile seizures plus and juvenile myoclonic epilepsy. In human embryonic kidney 293T cells, recombinant...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Cell Line

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electric Conductivity

Share to Epilepsy, Generalized

Share to Ion Channel Gating

Share to Kinetics

Share to Patch-Clamp Techniques

Share to Receptors, GABA-A

Source

Open in PubMed Open full text

Identifiers

PMID: 16452673
DOI: 10.1523/JNEUROSCI.2913-05.2006
PMCID: PMC6675478

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors.PMID 16452673Read ↗

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.Semantic proximity Read ↗

Altered Channel Conductance States and Gating of GABA A Receptors by a Pore Mutation Linked to Dravet SyndromeSemantic proximity Read ↗

Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans.Semantic proximity Read ↗

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

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy.Semantic proximity Read ↗

An asymmetric contribution to gamma-aminobutyric type A receptor function of a conserved lysine within TM2-3 of alpha1, beta2, and gamma2 subunits.Semantic proximity Read ↗

Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.Semantic proximity Read ↗

Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures.Semantic proximity Read ↗

A mutation in the GABAA receptor alpha 1 subunit linked to human epilepsy affects channel gating properties.Semantic proximity Read ↗

Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation.Semantic proximity Read ↗

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

Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity.Semantic proximity Read ↗

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