Genopathy
Gene-Disorder Association · Article
Gene
GABRA1
Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1
Disorder
Epilepsy, Idiopathic Generalized 13
First reported 2002
Supporting publications 21
Key publication · gene–disorder Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.Nature genetics · 2002
Key publication · disorder Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.The Journal of clinical investigation · 1973
Manually curated
Association Review

In brief

The association between GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1) and Epilepsy, Idiopathic Generalized 13 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, causative variation, and a susceptibility locus.

Sources 4
Clinical variants 522
Symptoms 0
Compounds 0
Trials 0
Publications 21
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

4 sources

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

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03
GABRA1

The gene

2 source summaries

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

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04
Epilepsy, Idiopathic Generalized 13

The disorder

9 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

522 clinical variants

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

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06
Literature

Reading

21 publications

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

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07
Provenance

References & sources

14 references

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

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