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

[Clinical phenotypes of epilepsy associated with GABRA1 gene variants].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Feb 2020

Yang Y, Zhang Y H, Chen J Y, Ma J H, Sun D, Yang X L, Zhang J, Chen Y, Wu X R

Abstract excerpt

Objective: To summarize the clinical phenotypes of epilepsy in patients with GABRA1 gene variants. Methods: A total of 11 epileptic patients (4 boys and 7 girls) who were treated in the Department of Pediatrics, Peking University First Hospital from March 2016 to July 2019 and detected with GABRA1 gene heterozygous pathogenic variants by targeted next-generation sequencing were enrolled. The features of clinical...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Developmental Disabilities
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Neuroimaging

Share to Receptors, GABA-A

Share to Seizures

Share to Spasms, Infantile

Source

Identifiers

PMID: 32102148
DOI: 10.3760/cma.j.issn.0578-1310.2020.02.010

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

[Clinical phenotypes of epilepsy associated with GABRA1 gene variants].PMID 32102148Read ↗

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

GABRA1 ‐Related Disorders: From Genetic to Functional PathwaysSemantic proximity Read ↗

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.Semantic proximity Read ↗

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

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.Semantic proximity Read ↗

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

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

Spectrum of GABAA receptor variants in epilepsySemantic proximity Read ↗

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

Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.Semantic proximity Read ↗

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.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.