Genopathy
Gene-Disorder Association · Article
Gene
GABRA1
Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1
Disorder
Epilepsy, Myoclonic Juvenile
First reported 1996
Supporting publications 4
Key publication · gene–disorder Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor alpha 1 and gamma 2 subunit gene cluster on chromosome 5.Epilepsy research · 1996
Key publication · disorder [Genetic study of a family with juvenile myoclonus-epilepsy with cherry red spots in the fundus oculi].Bollettino della Societa italiana di biologia sperimentale · 1970
Manually curated
Association Review

In brief

The association between GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1) and Epilepsy, Myoclonic Juvenile is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a susceptibility locus.

Sources 3
Clinical variants 8
Symptoms 23
Compounds 0
Trials 0
Publications 4
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

3 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, Myoclonic Juvenile

The disorder

13 database identifiers

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

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05
Phenotype

Clinical features

14 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

8 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

4 publications

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

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09
Provenance

References & sources

13 references

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

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