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

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

Neuroscience letters - 10 Apr 2009

Dibbens L M, Harkin L A, Richards M, Hodgson B L, Clarke A L, Petrou S, Scheffer I E, Berkovic S F, Mulley J C

Abstract excerpt

Rare GABA(A) receptor gamma2 and alpha1 subunit mutations of pathogenic effect have been described segregating in families with "monogenic" epilepsies. We now report globally on the genetic variation contained within all 16 neuronal GABA(A) receptor subunit genes from the one patient cohort. The...

Read the complete abstract on PubMed

Topics

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

Share to Oocytes
Share to Brain
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy, Generalized

Share to Neurons

Share to Protein Subunits

Share to Receptors, GABA-A

Share to Xenopus laevis

Source

Identifiers

PMID: 19429026
DOI: 10.1016/j.neulet.2009.02.038

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19429026-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.PMID 19429026Read ↗

Spectrum of GABAA receptor variants in epilepsySemantic 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 ↗

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

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

GABA(A) Receptor Subunit (γ2, δ, β1-3) Variants in Genetic Epilepsy: A Comprehensive Summary of 206 Clinical Cases.Semantic proximity Read ↗

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

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.Semantic proximity Read ↗

Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.Semantic proximity Read ↗

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.Semantic proximity Read ↗

GABRG2 Variants Associated with Febrile Seizures.Semantic proximity Read ↗

Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.Semantic proximity Read ↗

Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype.Semantic proximity Read ↗

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