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

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

The European journal of neuroscience - 1 Jul 2011

Lachance-Touchette Pamela, Brown Patricia, Meloche Caroline, Kinirons Peter, Lapointe Line, Lacasse Hélène, Lortie Anne, Carmant Lionel, Bedford Fiona, Bowie Derek, Cossette Patrick

Abstract excerpt

Epilepsy is a heterogeneous neurological disease affecting approximately 50 million people worldwide. Genetic factors play an important role in both the onset and severity of the condition, with mutations in several ion-channel genes being implicated, including those encoding the GABA(A) receptor...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy, Generalized
Share to HEK293 Cells
Share to Mutagenesis, Site-Directed

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Patch-Clamp Techniques

Share to Protein Conformation

Share to Protein Subunits

Share to Receptors, GABA-A

Share to Sequence Alignment

Source

Identifiers

PMID: 21714819
DOI: 10.1111/j.1460-9568.2011.07767.x

Genes

GABRA1
GABRG2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21714819-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.PMID 21714819Read ↗

GABA(A) receptor epilepsy mutations.Semantic proximity Read ↗

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

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

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

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.Semantic proximity Read ↗

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

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.Semantic proximity Read ↗

Spectrum of GABAA receptor variants in epilepsySemantic proximity Read ↗

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

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.Semantic proximity Read ↗

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