Genopathy
Gene-Disorder Association · Article
Gene
GABRA1
Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1
Disorder
Epilepsy, Idiopathic Generalized
First reported 2006
Supporting publications 17
Key publication · gene–disorder A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.Annals of neurology · 2006
Key publication · disorder Selective IgA deficiency and autoimmunity.Clinical and experimental immunology · 1970
Manually curated
Association Review

In brief

The association between GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1) and Epilepsy, Idiopathic Generalized is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 433
Symptoms 12
Compounds 0
Trials 0
Publications 17
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
GABRA1

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Epilepsy, Idiopathic Generalized

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

4 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

433 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

17 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

15 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access