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

Phenotype and genotype of people with epilepsy and GABAA receptor gene variants: Genetic and clinical characterization of six children in China.

Epilepsy research - 1 Sept 2026

Li Qinlan, Meng Linxue, Hong Siqi, Hu Yue, Li Xiujuan, Guo Yi, Jiang Li, Xie Lingling

Abstract excerpt

BACKGROUND: Variants in GABAA-receptor subunits genes are linked to neurodevelopmental disorders and epilepsy, but genotype-phenotype correlations remain unclear. This study aims to describe the clinical characteristics of children with epilepsy harboring such variants and explore these correlations. METHODS: Trio-WES/WES results from 886 individuals with unexplained epilepsy, evaluated between January 2018 and...

Read the complete abstract on PubMed

Topics

Humans
Receptors, GABA-A
Female
Male
Epilepsy
Child
Phenotype

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child, Preschool

China

Genotype

Genetic Association Studies

Anticonvulsants

Infant

Source

Identifiers

PMID: 42250373
DOI: 10.1016/j.eplepsyres.2026.107842

Genes

GABRG2
GABRA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype and genotype of people with epilepsy and GABAA receptor gene variants: Genetic and clinical characterization of six children in China.PMID 42250373Read ↗

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

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 ↗

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

Expansion of the Mutation and Phenotype Spectrum of the GABRA2-related developmental and epileptic encephalopathy78Semantic proximity Read ↗

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

Characterization of the GABRB2-Associated Neurodevelopmental Disorders.Semantic proximity Read ↗

Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 VariantsSemantic proximity Read ↗

A novel variant in GABRB2 associated with intellectual disability and epilepsy.Semantic proximity Read ↗

Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.Semantic proximity Read ↗

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

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

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